#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CLCN6	1185	broad.mit.edu	37	1	11897139	11897139	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:11897139C>T	ENST00000346436.6	+	19	2116	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	CLCN6_ENST00000376487.3_Silent_p.N666N|CLCN6_ENST00000376496.3_Silent_p.N688N|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	688					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTACGGAACATGTGTGATG	0.632																																						uc001ate.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2062-2064)aaC>aaT		Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.							68.0	63.0	65.0					1																	11897139		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897139C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2064C>T	1.37:g.11897139C>T						CLCN6_uc010oat.2_Silent_p.N404N|CLCN6_uc010oau.2_Silent_p.N666N	p.N688N	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	2177	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	688					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2064C>T	CCDS138.1																																																																																				0.632	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286	
PADI3	51702	broad.mit.edu	37	1	17609431	17609431	+	Missense_Mutation	SNP	C	C	T	rs144763474	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:17609431C>T	ENST00000375460.3	+	16	1892	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	618			R -> Q (in dbSNP:rs35624745).		protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGAAGGTGCGGTCCCTGCT	0.602													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19111	0.0		0.0	False		,,,				2504	0.0					uc001bai.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1852-1854)Cgg>Tgg		Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	L-Citrulline(DB00155)	C	TRP/ARG	21,4385	29.0+/-57.7	0,21,2182	79.0	64.0	69.0		1852	5.0	1.0	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense	PADI3	NM_016233.2	101	0,21,6482	TT,TC,CC		0.0,0.4766,0.1615	probably-damaging	618/665	17609431	21,12985	2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17609431C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1852C>T	1.37:g.17609431C>T	ENSP00000364609:p.Arg618Trp						p.R618W	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	15	1892	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	618		R -> Q (in dbSNP:rs35624745).			Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1852C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.974616	0.74360	0.004766	0.0	ENSG00000142619	ENST00000375460	T	0.25749	1.78	5.0	5.0	0.66597	Protein-arginine deiminase, C-terminal (1);	0.275088	0.37095	N	0.002252	T	0.45816	0.1361	M	0.87682	2.9	0.45822	D	0.998695	D	0.65815	0.995	P	0.54210	0.745	T	0.52563	-0.8559	10	0.56958	D	0.05	-18.3345	10.5262	0.44950	0.0:0.9105:0.0:0.0895	.	618	Q9ULW8	PADI3_HUMAN	W	618	ENSP00000364609:R618W	ENSP00000364609:R618W	R	+	1	2	PADI3	17482018	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	0.964000	0.29306	2.317000	0.78254	0.561000	0.74099	CGG		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1		
CNR2	1269	broad.mit.edu	37	1	24202118	24202118	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:24202118C>A	ENST00000374472.4	-	0	151				CNR2_ENST00000536471.1_De_novo_Start_InFrame	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GGGGTGGGCCCTTCAGATTCC	0.458																																						uc021oij.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26								Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	Nabilone(DB00486)						83.0	90.0	88.0					1																	24202118		2197	4286	6483			1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24202118C>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892		1.37:g.24202118C>A						CNR2_uc001bif.3_5'UTR		NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)			-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)						C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Translation_Start_Site	SNP	ENST00000374472.4	37		CCDS245.1																																																																																				0.458	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841	
TMEM57	55219	broad.mit.edu	37	1	25784890	25784890	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:25784890G>A	ENST00000374343.4	+	6	840	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	221					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCCAAAGGATTACCTGA	0.378																																						uc001bkk.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(661-663)Gga>Aga		Homo sapiens transmembrane protein 57 (TMEM57), mRNA.							119.0	134.0	129.0					1																	25784890		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25784890G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.661G>A	1.37:g.25784890G>A	ENSP00000363463:p.Gly221Arg					TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	p.G221R	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	5	863	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	221					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.661G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770517	0.90108	.	.	ENSG00000204178	ENST00000374343	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.72894	2.215	0.80722	D	1	D	0.54964	0.969	P	0.58454	0.839	T	0.70912	-0.4743	9	0.30078	T	0.28	-12.2619	19.583	0.95478	0.0:0.0:1.0:0.0	.	221	Q8N5G2	MACOI_HUMAN	R	221	.	ENSP00000363463:G221R	G	+	1	0	TMEM57	25657477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	GGA		0.378	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
SRSF11	9295	broad.mit.edu	37	1	70716405	70716405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:70716405G>T	ENST00000370950.3	+	13	1454	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	SRSF11_ENST00000370951.1_Nonsense_Mutation_p.E457*|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Nonsense_Mutation_p.E458*|SRSF11_ENST00000370949.1_Nonsense_Mutation_p.E398*			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	458					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						ATGTTCTGTGGAAAAGGGAAC	0.398																																						uc001des.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1372-1374)Gaa>Taa		Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.							87.0	81.0	83.0					1																	70716405		2203	4300	6503	SO:0001587	stop_gained	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70716405G>T	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1372G>T	1.37:g.70716405G>T	ENSP00000359988:p.Glu458*					SRSF11_uc001det.3_Nonsense_Mutation_p.E457*|SRSF11_uc001dev.3_Nonsense_Mutation_p.E268*|SRSF11_uc001dew.3_Nonsense_Mutation_p.E398*	p.E458*	NM_004768	NP_004759	Q05519	SRS11_HUMAN			12	1496	+			458					Q5T758|Q8IWE6	Nonsense_Mutation	SNP	ENST00000370950.3	37	c.1372G>T	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536559	0.85812	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949	.	.	.	5.46	5.46	0.80206	.	0.227174	0.44688	D	0.000436	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.6842	0.95974	0.0:0.0:1.0:0.0	.	.	.	.	X	457;458;458;398	.	ENSP00000359987:E398X	E	+	1	0	SRSF11	70488993	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.384000	0.79751	2.740000	0.93945	0.455000	0.32223	GAA		0.398	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	
ERICH3	127254	broad.mit.edu	37	1	75037396	75037396	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:75037396C>T	ENST00000326665.5	-	14	4216	c.3998G>A	c.(3997-3999)gGa>gAa	p.G1333E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1333	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTCCTCCCATGCCCTC	0.562																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3997-3999)gGa>gAa		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							271.0	252.0	258.0					1																	75037396		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037396C>T																												ENST00000326665.5:c.3998G>A	1.37:g.75037396C>T	ENSP00000322609:p.Gly1333Glu						p.G1333E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			13	4217	-			1333			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3998G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720974	0.30503	.	.	ENSG00000178965	ENST00000326665	T	0.14022	2.54	4.48	-7.66	0.01277	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41106	-0.9527	9	0.02654	T	1	.	1.8043	0.03077	0.1128:0.2351:0.2451:0.4071	.	1333	Q5RHP9	CA173_HUMAN	E	1333	ENSP00000322609:G1333E	ENSP00000322609:G1333E	G	-	2	0	C1orf173	74809984	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.337000	0.01104	-0.827000	0.04278	0.462000	0.41574	GGA		0.562	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
FNDC7	163479	broad.mit.edu	37	1	109270578	109270578	+	Silent	SNP	G	G	A	rs151239518	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:109270578G>A	ENST00000370017.3	+	7	1537	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	FNDC7_ENST00000271311.2_Silent_p.A421A	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	420	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTACTCCTGCGTGCACCCTTT	0.483													G|||	5	0.000998403	0.0008	0.0	5008	,	,		24008	0.004		0.0	False		,,,				2504	0.0					uc001dvx.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1258-1260)gcG>gcA		Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	266.0	226.0	240.0		1260	-11.4	0.3	1	dbSNP_134	240	0,8600		0,0,4300	no	coding-synonymous	FNDC7	NM_001144937.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		420/734	109270578	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109270578G>A		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1260G>A	1.37:g.109270578G>A						FNDC7_uc010ova.2_Silent_p.A187A	p.A420A	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	6	1260	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	421			Fibronectin type-III 5.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.1260G>A	CCDS44185.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	0.884	-0.727708	0.03158	4.54E-4	0.0	ENSG00000143107	ENST00000445274	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41998	-0.9477	4	.	.	.	-20.1361	2.065	0.03601	0.2224:0.353:0.229:0.1956	.	.	.	.	M	196	.	.	V	+	1	0	FNDC7	109072101	0.071000	0.21146	0.304000	0.25085	0.076000	0.17211	-0.800000	0.04555	-2.229000	0.00720	-2.108000	0.00357	GTG		0.483	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532	
FLG	2312	broad.mit.edu	37	1	152276186	152276186	+	Missense_Mutation	SNP	G	G	A	rs145171931	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:152276186G>A	ENST00000368799.1	-	3	11211	c.11176C>T	c.(11176-11178)Cgg>Tgg	p.R3726W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3726	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAGCCCGTCCATGGGCA	0.607									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11176-11178)Cgg>Tgg		Homo sapiens filaggrin (FLG), mRNA.		G	TRP/ARG	0,4406		0,0,2203	222.0	226.0	224.0		11176	1.4	0.0	1	dbSNP_134	224	4,8596	3.7+/-12.6	0,4,4296	no	missense	FLG	NM_002016.1	101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	3726/4062	152276186	4,13002	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276186G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11176C>T	1.37:g.152276186G>A	ENSP00000357789:p.Arg3726Trp						p.R3726W	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11212	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3726			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11176C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	4.227	0.041046	0.08196	0.0	4.65E-4	ENSG00000143631	ENST00000368799	T	0.01745	4.66	3.35	1.37	0.22104	.	.	.	.	.	T	0.00552	0.0018	N	0.22421	0.69	0.09310	N	1	B	0.21381	0.055	B	0.09377	0.004	T	0.45614	-0.9249	9	0.52906	T	0.07	.	9.373	0.38266	0.0:0.4314:0.5686:0.0	.	3726	P20930	FILA_HUMAN	W	3726	ENSP00000357789:R3726W	ENSP00000357789:R3726W	R	-	1	2	FLG	150542810	0.046000	0.20272	0.003000	0.11579	0.003000	0.03518	0.711000	0.25764	0.400000	0.25396	-0.321000	0.08615	CGG		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
NUF2	83540	broad.mit.edu	37	1	163306614	163306614	+	Silent	SNP	G	G	A	rs148215962		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:163306614G>A	ENST00000271452.3	+	6	690	c.411G>A	c.(409-411)acG>acA	p.T137T	NUF2_ENST00000367900.3_Silent_p.T137T|NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Silent_p.T137T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	137	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCCGTGAAACGTATATGGAAT	0.313													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16210	0.0		0.0	False		,,,				2504	0.0					uc001gcq.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(409-411)acG>acA		Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	68.0	70.0	69.0		411,411	-9.4	0.0	1	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	NUF2	NM_031423.3,NM_145697.2	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	137/465,137/465	163306614	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163306614G>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.411G>A	1.37:g.163306614G>A						NUF2_uc001gcr.1_Silent_p.T137T	p.T137T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			5	711	+	all_hematologic(923;0.101)		137			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.411G>A	CCDS1245.1																																																																																				0.313	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
PAPPA2	60676	broad.mit.edu	37	1	176734853	176734853	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:176734853T>C	ENST00000367662.3	+	15	5367	c.4203T>C	c.(4201-4203)ctT>ctC	p.L1401L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1401	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATTGCTGCTTGATCATGCTG	0.507																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4201-4203)ctT>ctC		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							193.0	185.0	187.0					1																	176734853		2077	4221	6298	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734853T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4203T>C	1.37:g.176734853T>C						PAPPA2_uc009www.3_Non-coding_Transcript	p.L1401L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5367	+			1401			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4203T>C	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
SLC45A3	85414	broad.mit.edu	37	1	205632180	205632180	+	Missense_Mutation	SNP	G	G	A	rs374541335		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:205632180G>A	ENST00000367145.3	-	3	1034	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	247					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAAGCCAAGCGGGCCCGGCAT	0.716			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(739-741)Cgc>Tgc		Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.		G	CYS/ARG	0,4396		0,0,2198	16.0	23.0	21.0		739	4.2	0.4	1		21	1,8587		0,1,4293	no	missense	SLC45A3	NM_033102.2	180	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	benign	247/554	205632180	1,12983	2198	4294	6492	SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205632180G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.739C>T	1.37:g.205632180G>A	ENSP00000356113:p.Arg247Cys					SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	p.R247C	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	1078	-	Breast(84;0.07)		247					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.739C>T	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530172	0.27387	0.0	1.16E-4	ENSG00000158715	ENST00000367145	T	0.48201	0.82	5.15	4.21	0.49690	Major facilitator superfamily domain, general substrate transporter (1);	0.224366	0.47455	D	0.000237	T	0.30978	0.0782	N	0.14661	0.345	0.27659	N	0.947147	P;P	0.50710	0.938;0.938	B;B	0.43360	0.417;0.417	T	0.13229	-1.0517	10	0.56958	D	0.05	-13.8637	8.6119	0.33808	0.0811:0.3038:0.6151:0.0	.	247;247	A8K2U9;Q96JT2	.;S45A3_HUMAN	C	247	ENSP00000356113:R247C	ENSP00000356113:R247C	R	-	1	0	SLC45A3	203898803	0.033000	0.19621	0.421000	0.26609	0.231000	0.25187	0.964000	0.29306	1.117000	0.41842	0.491000	0.48974	CGC		0.716	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102	
LEFTY2	7044	broad.mit.edu	37	1	226125177	226125177	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:226125177C>T	ENST00000366820.5	-	4	1413	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Silent_p.S321S|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	355					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGCCCCATCCGAGGCACAGC	0.602																																					Colon(172;116 2643 9098 43333)	uc001hpt.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1063-1065)tcG>tcA		Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.							59.0	59.0	59.0					1																	226125177		2203	4300	6503	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125177C>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.1065G>A	1.37:g.226125177C>T						LEFTY2_uc010pvk.2_Silent_p.S321S|LEFTY2_uc009xek.2_3'UTR	p.S355S	NM_003240	NP_003231	O00292	LFTY2_HUMAN			3	1308	-	Breast(184;0.197)		355					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.1065G>A	CCDS1549.1																																																																																				0.602	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240	
OR2M1P	388762	broad.mit.edu	37	1	248285934	248285934	+	IGR	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248285934G>A								OR2L13 (21710 upstream) : OR2M5 (22515 downstream)																							GGAGAGGGTCGTCGCAAAGCT	0.468																																						uc001idy.1																			0											c.(496-498)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																																				SO:0001628	intergenic_variant	388762							g.chr1:248285934G>A																													1.37:g.248285934G>A							p.R166H							0	497	+									Missense_Mutation	SNP		37	c.497G>A																																																																																				0	0.468								
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468																																						uc010pzf.2																			2	Substitution - Missense(2)	p.R234H(4)	prostate(1)|kidney(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(700-702)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.							175.0	154.0	161.0					1																	248343988		2203	4299	6502	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343988G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.701G>A	1.37:g.248343988G>A	ENSP00000352710:p.Arg234His						p.R234H	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.701G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	6.369	0.436111	0.12104	.	.	ENSG00000198601	ENST00000359682	T	0.00333	8.07	2.03	-0.0998	0.13623	GPCR, rhodopsin-like superfamily (1);	1.102670	0.07291	N	0.872436	T	0.00412	0.0013	M	0.83603	2.65	0.09310	N	1	B	0.21606	0.058	B	0.21708	0.036	T	0.38478	-0.9659	10	0.72032	D	0.01	.	10.5714	0.45202	0.1236:0.0:0.8764:0.0	.	234	Q96R28	OR2M2_HUMAN	H	234	ENSP00000352710:R234H	ENSP00000352710:R234H	R	+	2	0	OR2M2	246410611	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.047000	0.30367	-0.169000	0.10834	-1.847000	0.00572	CGT		0.468	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
OR2T27	403239	broad.mit.edu	37	1	248813409	248813409	+	Silent	SNP	G	G	A	rs370373865		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248813409G>A	ENST00000344889.3	-	1	776	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGCAGCACGTATGTGTACA	0.532																																						uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(775-777)taC>taT		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.							45.0	36.0	39.0					1																	248813409		2188	4270	6458	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813409G>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.777C>T	1.37:g.248813409G>A							p.Y259Y	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	777	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	259						Silent	SNP	ENST00000344889.3	37	c.777C>T	CCDS31124.1																																																																																				0.532	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
MYO3A	53904	broad.mit.edu	37	10	26315330	26315330	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:26315330delG	ENST00000265944.5	+	10	988	c.822delG	c.(820-822)aagfs	p.K274fs	MYO3A_ENST00000543632.1_Frame_Shift_Del_p.K274fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTATGAAAAGCGTCCAACAG	0.328																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(820-822)aagfs		Homo sapiens myosin IIIA (MYO3A), mRNA.							80.0	77.0	78.0					10																	26315330		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26315330delG	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.822delG	10.37:g.26315330delG	ENSP00000265944:p.Lys274fs					MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs	p.K274fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			9	1182	+			274			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.822delG	CCDS7148.1																																																																																				0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
PTEN	5728	broad.mit.edu	37	10	89725130	89725130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:89725130delC	ENST00000371953.3	+	9	2470	c.1113delC	c.(1111-1113)gacfs	p.D371fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	371					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGTTAGTGACAATGAACCTG	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		47	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(1111-1113)gacfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							33.0	31.0	32.0					10																	89725130		2201	4279	6480	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89725130delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1113delC	10.37:g.89725130delC	ENSP00000361021:p.Asp371fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D371fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2145	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	371					B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.1113delC	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
HTR7	3363	broad.mit.edu	37	10	92508680	92508680	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:92508680C>T	ENST00000336152.3	-	2	1237	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	HTR7_ENST00000371719.2_Missense_Mutation_p.R404Q|HTR7_ENST00000277874.6_Missense_Mutation_p.R404Q|HTR7_ENST00000371721.3_Missense_Mutation_p.R404Q	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	404					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTTGATATTCCGGTACTGGCA	0.507																																						uc001kha.3																			0		p.R404R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)cGg>cAg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						130.0	137.0	134.0					10																	92508680		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508680C>T	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1211G>A	10.37:g.92508680C>T	ENSP00000337949:p.Arg404Gln					HTR7_uc001kgz.3_Missense_Mutation_p.R404Q|HTR7_uc001khb.3_Missense_Mutation_p.R404Q	p.R404Q	NM_019859	NP_062873	P34969	5HT7R_HUMAN			1	1454	-			404					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1211G>A	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088065	0.76642	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.34521	1.04	0.48571	D	0.999671	P;P	0.46277	0.875;0.726	B;B	0.28991	0.097;0.079	T	0.06698	-1.0812	10	0.34782	T	0.22	.	19.4534	0.94876	0.0:1.0:0.0:0.0	.	404;404	P34969;P34969-2	5HT7R_HUMAN;.	Q	404	ENSP00000337949:R404Q;ENSP00000277874:R404Q;ENSP00000360784:R404Q;ENSP00000360786:R404Q	ENSP00000277874:R404Q	R	-	2	0	HTR7	92498660	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.484000	0.81180	2.593000	0.87608	0.650000	0.86243	CGG		0.507	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
OR4D10	390197	broad.mit.edu	37	11	59245250	59245250	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:59245250G>A	ENST00000530162.1	+	1	405	c.348G>A	c.(346-348)tcG>tcA	p.S116S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTCTTTCGGTGATGGCAT	0.473																																						uc001nnz.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(346-348)tcG>tcA		Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.							81.0	83.0	82.0					11																	59245250		2174	4283	6457	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245250G>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.348G>A	11.37:g.59245250G>A							p.S116S	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			0	348	+			116					B2RNH6	Silent	SNP	ENST00000530162.1	37	c.348G>A	CCDS53636.1																																																																																				0.473	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705	
ATM	472	broad.mit.edu	37	11	108199882	108199882	+	Frame_Shift_Del	DEL	G	G	-	rs145747513		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:108199882delG	ENST00000452508.2	+	50	7413	c.7224delG	c.(7222-7224)tcgfs	p.S2408fs	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.S2408fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2408	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		S -> L (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGAAATCATCGGAATTTGAAA	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0		p.S2408L(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7222-7224)tcgfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							76.0	75.0	75.0					11																	108199882		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108199882delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7224delG	11.37:g.108199882delG	ENSP00000388058:p.Ser2408fs	TSP Lung(14;0.12)				ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs	p.S2408fs	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	48	7609	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2408		S -> L (in a colorectal adenocarcinoma sample; somatic mutation).	FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.7224delG	CCDS31669.1																																																																																				0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
Unknown	0	broad.mit.edu	37	12	9447432	9447432	+	IGR	SNP	C	C	G	rs375245550		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:9447432C>G								SNORA75 (8014 upstream) : RP13-735L24.1 (72627 downstream)														p.T167R(1)									GAAGAAGAAACAGAGAATCTC	0.632																																						uc010sgq.1																			1	Substitution - Missense(1)	p.T167R(1)	stomach(1)								c.(421-423)aCa>aGa		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																																				SO:0001628	intergenic_variant	642846							g.chr12:9447432C>G																													12.37:g.9447432C>G						LOC642846_uc010sgp.1_Non-coding_Transcript|LOC642846_uc009zgn.1_5'UTR|LOC642846_uc001qvo.2_5'UTR	p.T141R							4	513	+									Missense_Mutation	SNP		37	c.422C>G																																																																																				0	0.632								
ST8SIA1	6489	broad.mit.edu	37	12	22354787	22354787	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:22354787C>T	ENST00000396037.4	-	5	1251	c.770G>A	c.(769-771)cGt>cAt	p.R257H	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.R114H	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	257					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCCAATGCTACGCAGAAAGTT	0.478																																						uc001rfo.4																			0		p.R257C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(769-771)cGt>cAt		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.							72.0	73.0	73.0					12																	22354787		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354787C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.770G>A	12.37:g.22354787C>T	ENSP00000379353:p.Arg257His					ST8SIA1_uc009zix.3_Missense_Mutation_p.R114H	p.R257H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			4	1252	-			257					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.770G>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963734	0.53507	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T;T	0.34072	1.38;1.38	5.73	5.73	0.89815	.	0.158578	0.56097	D	0.000025	T	0.28962	0.0719	L	0.41824	1.3	0.53688	D	0.99997	B;P	0.41947	0.41;0.766	B;B	0.32211	0.033;0.142	T	0.05321	-1.0892	10	0.18710	T	0.47	-10.8842	20.2602	0.98440	0.0:1.0:0.0:0.0	.	114;257	G3V1U7;Q92185	.;SIA8A_HUMAN	H	257;114	ENSP00000379353:R257H;ENSP00000446363:R114H	ENSP00000379353:R257H	R	-	2	0	ST8SIA1	22246054	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.894000	0.48640	2.861000	0.98227	0.655000	0.94253	CGT		0.478	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034	
SRGAP1	57522	broad.mit.edu	37	12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A	rs201404379		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	617	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463																																						uc010ssp.1																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1849-1851)cGc>cAc		Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.		G	HIS/ARG	0,4406		0,0,2203	150.0	131.0	137.0		1850	4.3	1.0	12		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRGAP1	NM_020762.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	617/1086	64502748	2,13004	2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502748G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1850G>A	12.37:g.64502748G>A	ENSP00000347198:p.Arg617His					SRGAP1_uc001srv.2_Missense_Mutation_p.R554H	p.R617H	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	1906	+			617			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1850G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC		0.463	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
GRIP1	23426	broad.mit.edu	37	12	66765507	66765507	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:66765507C>T	ENST00000398016.3	-	22	2891	c.2823G>A	c.(2821-2823)gaG>gaA	p.E941E	GRIP1_ENST00000286445.7_Silent_p.E978E|GRIP1_ENST00000359742.4_Silent_p.E993E	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)			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)		GAGACATGATCTCCTTTATTT	0.493																																						uc001stk.3																			0				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						c.(2821-2823)gaG>gaA		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							160.0	164.0	163.0					12																	66765507		1960	4153	6113	SO:0001819	synonymous_variant	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.chr12:66765507C>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.2823G>A	12.37:g.66765507C>T						GRIP1_uc010sta.1_Silent_p.E885E|GRIP1_uc001stj.3_Silent_p.E708E|GRIP1_uc001stm.3_Silent_p.E926E|GRIP1_uc001stl.1_Silent_p.E818E	p.E941E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	21	3064	-			993					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.2823G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.197524	0.01594	.	.	ENSG00000155974	ENST00000538164	.	.	.	6.13	4.24	0.50183	.	.	.	.	.	T	0.49047	0.1534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-18.5136	4.2564	0.10719	0.1422:0.4126:0.354:0.0912	.	.	.	.	K	793	.	.	R	-	2	0	GRIP1	65051774	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	1.204000	0.32296	0.847000	0.35167	0.650000	0.86243	AGA		0.493	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
C12orf43	64897	broad.mit.edu	37	12	121444130	121444130	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:121444130C>T	ENST00000288757.3	-	4	377	c.355G>A	c.(355-357)Gat>Aat	p.D119N	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000445832.3_Missense_Mutation_p.D89N|C12orf43_ENST00000539736.1_Missense_Mutation_p.D119N|C12orf43_ENST00000366211.2_Missense_Mutation_p.D77N|C12orf43_ENST00000537817.1_Missense_Mutation_p.D120N	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	119										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACCATCATCCTCCAAAGCG	0.403																																						uc009zxa.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(448-450)Gat>Aat		Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.							175.0	142.0	153.0					12																	121444130		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121444130C>T	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.355G>A	12.37:g.121444130C>T	ENSP00000288757:p.Asp119Asn					C12orf43_uc001tzh.1_Missense_Mutation_p.D119N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N	p.D150N	NM_022895	NP_075046	Q96C57	CL043_HUMAN			3	471	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		119			Poly-Ser.		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.448G>A	CCDS9210.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361603	0.61403	.	.	ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	T;T;T;T;T	0.56941	0.45;0.43;0.46;0.75;0.49	5.32	5.32	0.75619	.	0.141947	0.64402	D	0.000008	T	0.71467	0.3343	M	0.70275	2.135	0.33627	D	0.605487	D;D;P;D;B	0.89917	0.999;1.0;0.763;0.999;0.328	D;D;B;D;B	0.71656	0.974;0.974;0.308;0.933;0.232	T	0.78999	-0.1982	10	0.72032	D	0.01	-11.3074	17.0765	0.86588	0.0:1.0:0.0:0.0	.	119;77;120;119;119	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.;.;.;.;CL043_HUMAN	N	89;119;120;77;119;56;73	ENSP00000409788:D89N;ENSP00000288757:D119N;ENSP00000442224:D120N;ENSP00000437803:D119N;ENSP00000442041:D56N	ENSP00000288757:D119N	D	-	1	0	C12orf43	119928513	0.999000	0.42202	0.974000	0.42286	0.146000	0.21551	4.274000	0.58921	2.886000	0.99085	0.650000	0.86243	GAT		0.403	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895	
RNF17	56163	broad.mit.edu	37	13	25419167	25419167	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr13:25419167T>A	ENST00000255324.5	+	22	3103	c.3051T>A	c.(3049-3051)aaT>aaA	p.N1017K	RNF17_ENST00000339524.3_Missense_Mutation_p.N69K|RNF17_ENST00000381921.1_Missense_Mutation_p.N1017K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1017	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGAAGAAAATCTAAAGACAA	0.308																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3049-3051)aaT>aaA		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							119.0	132.0	127.0					13																	25419167		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25419167T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3051T>A	13.37:g.25419167T>A	ENSP00000255324:p.Asn1017Lys					RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010tde.2_Missense_Mutation_p.N1017K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N956K|RNF17_uc010aac.3_Missense_Mutation_p.N215K|RNF17_uc010aad.3_Missense_Mutation_p.N69K	p.N1017K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	21	3092	+		Lung SC(185;0.0225)|Breast(139;0.077)	1017			Tudor 2.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3051T>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237476	0.39498	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.86	2.62	0.31277	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.237875	0.36066	N	0.002803	T	0.05410	0.0143	N	0.19112	0.55	0.80722	D	1	P;P;B;P	0.45283	0.855;0.608;0.16;0.734	B;B;B;B	0.43386	0.418;0.183;0.087;0.363	T	0.52102	-0.8620	10	0.19147	T	0.46	-7.1031	6.4963	0.22144	0.0:0.1634:0.0:0.8366	.	1017;69;1017;1017	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	K	1017;1017;876;341;69	ENSP00000255324:N1017K;ENSP00000371346:N1017K;ENSP00000388892:N341K;ENSP00000344776:N69K	ENSP00000255324:N1017K	N	+	3	2	RNF17	24317167	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	0.158000	0.16422	0.431000	0.26258	0.482000	0.46254	AAT		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
TEP1	7011	broad.mit.edu	37	14	20873722	20873722	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873722C>G	ENST00000262715.5	-	4	798	c.758G>C	c.(757-759)tGc>tCc	p.C253S	TEP1_ENST00000556935.1_Missense_Mutation_p.C253S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	253	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAGTAGAGCACAGCAAGCT	0.468																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(757-759)tGc>tCc		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							91.0	87.0	89.0					14																	20873722		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20873722C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.758G>C	14.37:g.20873722C>G	ENSP00000262715:p.Cys253Ser					TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.C253S	p.C253S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	798	-	all_cancers(95;0.00123)	all_lung(585;0.235)	253			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.758G>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480961	0.63849	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15718	2.4;2.4	4.84	4.84	0.62591	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.32530	0.975	0.80722	D	1	D;P	0.76494	0.999;0.926	D;P	0.83275	0.996;0.83	T	0.00827	-1.1550	10	0.23302	T	0.38	-16.5757	13.0248	0.58808	0.0:0.8374:0.1625:0.0	.	253;253	G3V5X7;Q99973	.;TEP1_HUMAN	S	253	ENSP00000262715:C253S;ENSP00000452574:C253S	ENSP00000262715:C253S	C	-	2	0	TEP1	19943562	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.495000	0.60353	2.679000	0.91253	0.655000	0.94253	TGC		0.468	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
TEP1	7011	broad.mit.edu	37	14	20873724	20873724	+	Silent	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873724C>G	ENST00000262715.5	-	4	796	c.756G>C	c.(754-756)ctG>ctC	p.L252L	TEP1_ENST00000556935.1_Silent_p.L252L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	252	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGTAGAGCACAGCAAGCTCA	0.463																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(754-756)ctG>ctC		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							89.0	85.0	86.0					14																	20873724		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20873724C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.756G>C	14.37:g.20873724C>G						TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L252L	p.L252L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	796	-	all_cancers(95;0.00123)	all_lung(585;0.235)	252			TROVE.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.756G>C	CCDS9548.1																																																																																				0.463	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
NOVA1	4857	broad.mit.edu	37	14	26941562	26941562	+	Silent	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:26941562A>C	ENST00000344429.5	-	4	486	c.483T>G	c.(481-483)tcT>tcG	p.S161S	NOVA1_ENST00000547619.1_Silent_p.S161S|NOVA1_ENST00000267422.7_Silent_p.S39S|NOVA1_ENST00000539517.2_Silent_p.S161S|NOVA1_ENST00000465357.2_Intron	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	164					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCAGATGGAGAGGACTTGG	0.428																																						uc001wqa.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(115-117)tcT>tcG		Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.							217.0	180.0	193.0					14																	26941562		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26941562A>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.483T>G	14.37:g.26941562A>C						NOVA1_uc001wpy.3_Silent_p.S161S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Silent_p.S161S	p.S39S	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	4	903	-			164					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.117T>G	CCDS9635.1																																																																																				0.428	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491	
RTN1	6252	broad.mit.edu	37	14	60212931	60212931	+	Missense_Mutation	SNP	C	C	G	rs201476917		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60212931C>G	ENST00000267484.5	-	2	845	c.510G>C	c.(508-510)atG>atC	p.M170I		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	170					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGCAGGAGTCATCTCTATTC	0.512																																						uc001xen.1																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(508-510)atG>atC		Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.							104.0	104.0	104.0					14																	60212931		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212931C>G	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.510G>C	14.37:g.60212931C>G	ENSP00000267484:p.Met170Ile						p.M170I	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	1	719	-			170					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.510G>C	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054873	0.75960	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.25414	1.8	5.48	5.48	0.80851	.	0.255193	0.45867	D	0.000331	T	0.32645	0.0836	M	0.72894	2.215	0.58432	D	0.999994	B	0.30824	0.296	B	0.26202	0.067	T	0.10359	-1.0633	10	0.46703	T	0.11	.	19.3358	0.94319	0.0:1.0:0.0:0.0	.	170	Q16799	RTN1_HUMAN	I	170;96	ENSP00000267484:M170I	ENSP00000267484:M170I	M	-	3	0	RTN1	59282684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.025000	0.57225	2.573000	0.86826	0.557000	0.71058	ATG		0.512	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
RTN1	6252	broad.mit.edu	37	14	60213169	60213169	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60213169T>C	ENST00000267484.5	-	2	607	c.272A>G	c.(271-273)cAc>cGc	p.H91R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	91					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGAGAAGGTGTGGTCCATGGC	0.478																																						uc001xen.1																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(271-273)cAc>cGc		Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.							81.0	62.0	68.0					14																	60213169		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60213169T>C	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.272A>G	14.37:g.60213169T>C	ENSP00000267484:p.His91Arg						p.H91R	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	1	481	-			91					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.272A>G	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	T	9.890	1.203926	0.22121	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.23348	1.91	5.07	-1.5	0.08691	.	1.038360	0.07466	N	0.901455	T	0.19287	0.0463	L	0.50919	1.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35325	-0.9793	10	0.17369	T	0.5	.	5.2691	0.15615	0.0:0.3129:0.1448:0.5422	.	91	Q16799	RTN1_HUMAN	R	91;17	ENSP00000267484:H91R	ENSP00000267484:H91R	H	-	2	0	RTN1	59282922	0.005000	0.15991	0.003000	0.11579	0.016000	0.09150	0.022000	0.13511	-0.186000	0.10533	-0.379000	0.06801	CAC		0.478	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
SYNE2	23224	broad.mit.edu	37	14	64430685	64430685	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:64430685T>C	ENST00000344113.4	+	10	1169	c.957T>C	c.(955-957)gaT>gaC	p.D319D	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.D319D|SYNE2_ENST00000358025.3_Silent_p.D319D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	319					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCTAAAGGATTCAGAGAATG	0.308																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(955-957)gaT>gaC		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							81.0	77.0	78.0					14																	64430685		1806	4069	5875	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64430685T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.957T>C	14.37:g.64430685T>C						SYNE2_uc001xgm.3_Silent_p.D319D|SYNE2_uc021ruh.1_Silent_p.D319D	p.D319D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	9	1187	+			319					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.957T>C	CCDS41963.1																																																																																				0.308	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
NEDD4	4734	broad.mit.edu	37	15	56132880	56132880	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr15:56132880G>A	ENST00000508342.1	-	16	3440	c.3141C>T	c.(3139-3141)aaC>aaT	p.N1047N	NEDD4_ENST00000435532.3_Silent_p.N628N|NEDD4_ENST00000506154.1_Silent_p.N1031N|NEDD4_ENST00000338963.2_Silent_p.N975N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1047	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTGATCTTCGTTACACAATC	0.338																																						uc002adj.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3139-3141)aaC>aaT		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.							135.0	145.0	142.0					15																	56132880		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56132880G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3141C>T	15.37:g.56132880G>A						NEDD4_uc002adl.3_Silent_p.N628N|NEDD4_uc002adi.3_Silent_p.N975N|NEDD4_uc010ugj.2_Silent_p.N1031N|NEDD4_uc010bfm.3_Silent_p.N1030N|NEDD4_uc002adk.3_Non-coding_Transcript	p.N1047N	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	15	3441	-			1047			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.3141C>T		.	.	.	.	.	.	.	.	.	.	G	8.038	0.763159	0.15914	.	.	ENSG00000069869	ENST00000508871	.	.	.	6.07	2.54	0.30619	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50406	-0.8832	4	.	.	.	.	9.3814	0.38316	0.7988:0.0:0.2012:0.0	.	.	.	.	M	638	.	.	T	-	2	0	NEDD4	53920172	0.985000	0.35326	1.000000	0.80357	0.934000	0.57294	0.464000	0.21988	0.190000	0.20209	-1.004000	0.02495	ACG		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
HS3ST6	64711	broad.mit.edu	37	16	1962204	1962204	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr16:1962204C>A	ENST00000293937.3	-	2	415	c.416G>T	c.(415-417)aGt>aTt	p.S139I	HS3ST6_ENST00000443547.1_Missense_Mutation_p.S108I|HS3ST6_ENST00000454677.2_Missense_Mutation_p.S156I			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	139					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGGCATCAGACTCCTGCGGGA	0.706																																						uc002cnf.3																			0				endometrium(2)|lung(2)	4						c.(322-324)aGt>aTt		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.							11.0	13.0	12.0					16																	1962204		2188	4290	6478	SO:0001583	missense	64711							g.chr16:1962204C>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.416G>T	16.37:g.1962204C>A	ENSP00000293937:p.Ser139Ile					TCRBV20S1_uc021tak.1_Intron	p.S108I	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			1	323	-			108					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.323G>T		.	.	.	.	.	.	.	.	.	.	C	11.24	1.579912	0.28180	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.57273	0.41;0.41	4.91	2.95	0.34219	Sulfotransferase domain (1);	0.508110	0.22524	N	0.058924	T	0.62600	0.2441	M	0.85630	2.765	0.26396	N	0.97651	P	0.45126	0.851	P	0.50314	0.637	T	0.57195	-0.7853	10	0.54805	T	0.06	.	7.5376	0.27719	0.0:0.7401:0.0:0.2599	.	139	Q96QI5	HS3S6_HUMAN	I	139;108;178	ENSP00000293937:S139I;ENSP00000390354:S108I	ENSP00000293937:S139I	S	-	2	0	HS3ST6	1902205	1.000000	0.71417	0.999000	0.59377	0.014000	0.08584	0.970000	0.29383	1.084000	0.41184	0.555000	0.69702	AGT		0.706	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606	
PHF12	57649	broad.mit.edu	37	17	27240276	27240276	+	Missense_Mutation	SNP	G	G	A	rs141809044		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:27240276G>A	ENST00000332830.4	-	9	2123	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PHF12_ENST00000268756.3_Missense_Mutation_p.A438V|PHF12_ENST00000577226.1_Missense_Mutation_p.A438V|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCACTGGAGCGCAACAACACT	0.532																																						uc002hdg.1																			0		p.A438A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1312-1314)gCg>gTg		Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	78.0	79.0	79.0		1313,1313	5.5	1.0	17	dbSNP_134	79	0,8600		0,0,4300	no	missense,missense	PHF12	NM_001033561.1,NM_020889.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	438/1005,438/705	27240276	1,13005	2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27240276G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1313C>T	17.37:g.27240276G>A	ENSP00000329933:p.Ala438Val					PHF12_uc010wbb.1_Missense_Mutation_p.A420V|PHF12_uc002hdi.1_Missense_Mutation_p.A434V|PHF12_uc002hdj.1_Missense_Mutation_p.A438V|PHF12_uc010crw.1_Missense_Mutation_p.A141V|PHF12_uc002hdh.1_Missense_Mutation_p.A221V	p.A438V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		8	1843	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		438			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1313C>T	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911124	0.92178	2.27E-4	0.0	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.96396	-3.98;-4.0;-4.0	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.996;0.994;0.926;0.991	D	0.98145	1.0438	10	0.87932	D	0	-0.3355	18.2435	0.89977	0.0:0.0:1.0:0.0	.	420;438;438;438;438	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	V	438	ENSP00000329933:A438V;ENSP00000368157:A438V;ENSP00000268756:A438V	ENSP00000268756:A438V	A	-	2	0	PHF12	24264402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.724000	0.93272	0.563000	0.77884	GCG		0.532	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
ACACA	31	broad.mit.edu	37	17	35633950	35633950	+	Silent	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:35633950A>G	ENST00000394406.2	-	7	857	c.667T>C	c.(667-669)Ttg>Ctg	p.L223L	ACACA_ENST00000360679.3_Silent_p.L165L|ACACA_ENST00000353139.5_Silent_p.L260L|ACACA_ENST00000335166.5_Silent_p.L145L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	223	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATTTTTCAAGAGAAGTTCC	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(667-669)Ttg>Ctg		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						145.0	144.0	144.0					17																	35633950		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35633950A>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.667T>C	17.37:g.35633950A>G						ACACA_uc002hnk.3_Silent_p.L145L|ACACA_uc002hnl.3_Silent_p.L165L|ACACA_uc002hnn.3_Silent_p.L223L|ACACA_uc002hno.3_Silent_p.L260L|ACACA_uc010cuz.3_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L	p.L223L	NM_198836	NP_942135	Q13085	ACACA_HUMAN			6	858	-		Breast(25;0.00157)|Ovarian(249;0.15)	223			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.667T>C	CCDS11317.1																																																																																				0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
KRTAP4-7	100132476	broad.mit.edu	37	17	39240673	39240673	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:39240673C>T	ENST00000391417.4	+	1	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	72	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCTGTGAGACGACctgctgc	0.652																																						uc010wfn.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(214-216)aCg>aTg		Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.							18.0	30.0	27.0					17																	39240673		691	1591	2282	SO:0001583	missense	100132476							g.chr17:39240673C>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.215C>T	17.37:g.39240673C>T	ENSP00000375236:p.Thr72Met						p.T72M	NM_033061	NP_149050					0	215	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.215C>T	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	5.019	0.189254	0.09547	.	.	ENSG00000240871	ENST00000391417	T	0.01455	4.87	3.54	1.35	0.21983	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.44590	-0.9318	8	0.87932	D	0	.	6.5286	0.22314	0.0:0.706:0.183:0.111	.	72	Q9BYR0	KRA47_HUMAN	M	72	ENSP00000375236:T72M	ENSP00000375236:T72M	T	+	2	0	KRTAP4-7	36494199	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.962000	0.29280	0.093000	0.17368	-0.398000	0.06409	ACG		0.652	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						uc010wfp.2																			1	Substitution - Missense(1)	p.D18V(2)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			0	53	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041	
COL1A1	1277	broad.mit.edu	37	17	48263379	48263379	+	Silent	SNP	G	G	A	rs72656346		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48263379G>A	ENST00000225964.5	-	50	4126	c.4008C>T	c.(4006-4008)ttC>ttT	p.F1336F		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1336	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGCCATACTCGAACTGCAGGG	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(4006-4008)ttC>ttT		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						28.0	28.0	28.0					17																	48263379		2199	4293	6492	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263379G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4008C>T	17.37:g.48263379G>A						DD181999_uc021tzy.1_5'Flank	p.F1336F	NM_000088	NP_000079	P02452	CO1A1_HUMAN			49	4134	-			1336			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.4008C>T	CCDS11561.1																																																																																				0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
ABCC3	8714	broad.mit.edu	37	17	48757178	48757178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48757178G>A	ENST00000285238.8	+	26	3805	c.3725G>A	c.(3724-3726)tGg>tAg	p.W1242*		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1242	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCTCTGAACTGGATGATACGA	0.517																																						uc002isl.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3724-3726)tGg>tAg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	Glibenclamide(DB01016)						176.0	144.0	155.0					17																	48757178		2203	4300	6503	SO:0001587	stop_gained	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48757178G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3725G>A	17.37:g.48757178G>A	ENSP00000285238:p.Trp1242*					ABCC3_uc002isn.3_5'UTR	p.W1242*	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		25	3805	+			1242			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Nonsense_Mutation	SNP	ENST00000285238.8	37	c.3725G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	44	10.890546	0.99484	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9464	18.1785	0.89769	0.0:0.0:1.0:0.0	.	.	.	.	X	1242	.	ENSP00000285238:W1242X	W	+	2	0	ABCC3	46112177	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.605000	0.74155	2.263000	0.75096	0.655000	0.94253	TGG		0.517	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038	
SOX9	6662	broad.mit.edu	37	17	70120351	70120351	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:70120351C>T	ENST00000245479.2	+	3	1725	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	451					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAGCTCCTACTACAGCCACG	0.637																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(1351-1353)taC>taT		Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.							179.0	167.0	171.0					17																	70120351		2203	4300	6503	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120351C>T	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1353C>T	17.37:g.70120351C>T							p.Y451Y	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	1725	+		Colorectal(1115;0.245)	451					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.1353C>T	CCDS11689.1																																																																																				0.637	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
SEPT9	10801	broad.mit.edu	37	17	75398771	75398771	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:75398771C>T	ENST00000427177.1	+	3	833	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SEPT9_ENST00000431235.2_Missense_Mutation_p.P72L|SEPT9_ENST00000592420.1_Missense_Mutation_p.P45L|SEPT9_ENST00000591198.1_Missense_Mutation_p.P217L|SEPT9_ENST00000427674.2_Missense_Mutation_p.P72L|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000423034.2_Missense_Mutation_p.P229L|SEPT9_ENST00000329047.8_Missense_Mutation_p.P218L|SEPT9_ENST00000590294.1_Missense_Mutation_p.P218L|SEPT9_ENST00000588690.1_Missense_Mutation_p.P72L|SEPT9_ENST00000449803.2_Missense_Mutation_p.P72L	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	236					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGGCTACACCCCGGAGCCAG	0.627																																						uc002jts.4																			0		p.A235V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(706-708)cCc>cTc		Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.							19.0	23.0	22.0					17																	75398771		1906	4107	6013	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75398771C>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.707C>T	17.37:g.75398771C>T	ENSP00000391249:p.Pro236Leu					SEPT9_uc010wtk.2_Missense_Mutation_p.P217L|SEPT9_uc002jtt.4_Missense_Mutation_p.P72L|SEPT9_uc002jtu.4_Missense_Mutation_p.P218L|SEPT9_uc002jtv.3_Missense_Mutation_p.P229L|SEPT9_uc002jtw.3_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.2_5'Flank	p.P236L	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	833	+			236					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.707C>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	C	4.298	0.054529	0.08291	.	.	ENSG00000184640	ENST00000427177;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674	T;T;T;T;T	0.43688	1.31;0.94;1.32;1.32;0.94	4.84	3.84	0.44239	.	2.201380	0.01633	U	0.023636	T	0.41811	0.1175	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;B;B	0.30281	0.161;0.275;0.191;0.001;0.005	B;B;B;B;B	0.33690	0.116;0.168;0.156;0.002;0.004	T	0.35325	-0.9793	10	0.23891	T	0.37	.	11.2297	0.48905	0.3448:0.6552:0.0:0.0	.	217;197;229;218;236	Q9UHD8-7;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;SEPT9_HUMAN	L	236;72;218;229;72	ENSP00000391249:P236L;ENSP00000400181:P72L;ENSP00000329161:P218L;ENSP00000405877:P229L;ENSP00000403194:P72L	ENSP00000329161:P218L	P	+	2	0	SEPT9	72910366	0.179000	0.23135	0.205000	0.23548	0.177000	0.22998	1.645000	0.37238	0.964000	0.38108	0.313000	0.20887	CCC		0.627	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640	
GAA	2548	broad.mit.edu	37	17	78083809	78083809	+	Silent	SNP	G	G	A	rs372786811		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:78083809G>A	ENST00000302262.3	+	9	1611	c.1392G>A	c.(1390-1392)agG>agA	p.R464R	GAA_ENST00000390015.3_Silent_p.R464R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	464					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GTCTGCGGAGGGGGGTTTTCA	0.657																																						uc002jxp.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1390-1392)agG>agA		Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	Acarbose(DB00284)						37.0	43.0	41.0					17																	78083809		2202	4300	6502	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78083809G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1392G>A	17.37:g.78083809G>A						GAA_uc002jxo.3_Silent_p.R464R|GAA_uc002jxq.3_Silent_p.R464R	p.R464R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		8	1759	+	all_neural(118;0.117)		464					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1392G>A	CCDS32760.1																																																																																				0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		
SMCHD1	23347	broad.mit.edu	37	18	2700844	2700844	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:2700844A>C	ENST00000320876.6	+	12	1913	c.1575A>C	c.(1573-1575)aaA>aaC	p.K525N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K525N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	525					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCACAAATAAATTGACGTTTA	0.338																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1573-1575)aaA>aaC		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							83.0	83.0	83.0					18																	2700844		1836	4090	5926	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2700844A>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1575A>C	18.37:g.2700844A>C	ENSP00000326603:p.Lys525Asn					SMCHD1_uc002klk.4_Non-coding_Transcript	p.K525N	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			11	1764	+			525					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1575A>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	7.944	0.743326	0.15642	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.59638	0.25;0.28	5.46	1.33	0.21861	.	.	.	.	.	T	0.67692	0.2920	L	0.53249	1.67	0.30829	N	0.736912	D	0.76494	0.999	D	0.80764	0.994	T	0.65647	-0.6117	9	0.87932	D	0	.	8.9801	0.35959	0.7086:0.0:0.2914:0.0	.	525	A6NHR9	SMHD1_HUMAN	N	525	ENSP00000326603:K525N;ENSP00000261598:K525N	ENSP00000261598:K525N	K	+	3	2	SMCHD1	2690844	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	0.956000	0.29202	-0.007000	0.14345	-0.353000	0.07706	AAA		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
CIDEA	1149	broad.mit.edu	37	18	12274238	12274238	+	Silent	SNP	C	C	T	rs143526030	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:12274238C>T	ENST00000320477.9	+	4	542	c.477C>T	c.(475-477)taC>taT	p.Y159Y	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	159					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCGTGTCCTACGACATCCGGT	0.587																																						uc002kqt.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(475-477)taC>taT		Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.		C		0,4406		0,0,2203	128.0	103.0	111.0		477	-1.7	1.0	18	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CIDEA	NM_001279.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		159/220	12274238	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274238C>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.477C>T	18.37:g.12274238C>T						CIDEA_uc002kqu.4_Silent_p.Y193Y|CIDEA_uc010dlc.3_Non-coding_Transcript	p.Y159Y	NM_001279	NP_001270	O60543	CIDEA_HUMAN			3	542	+			159					B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	c.477C>T	CCDS11856.1																																																																																				0.587	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279	
TICAM1	148022	broad.mit.edu	37	19	4817811	4817811	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:4817811G>A	ENST00000248244.5	-	2	808	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	193					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGATCGCAGGGAGCACCCTT	0.652																																						uc002mbi.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(577-579)tcC>tcT		Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.							60.0	58.0	59.0					19																	4817811		2203	4300	6503	SO:0001819	synonymous_variant	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817811G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.579C>T	19.37:g.4817811G>A						TICAM1_uc021unj.1_Silent_p.S193S	p.S193S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	830	-			193					B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	c.579C>T	CCDS12136.1																																																																																				0.652	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261	
MUC16	94025	broad.mit.edu	37	19	9058146	9058146	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9058146T>C	ENST00000397910.4	-	3	29503	c.29300A>G	c.(29299-29301)aAg>aGg	p.K9767R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9769	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)				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						TTCTGTAGTCTTCACCAGGCC	0.493																																						uc002mkp.3																			0				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						c.(29299-29301)aAg>aGg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							60.0	57.0	58.0					19																	9058146		1910	4129	6039	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058146T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29300A>G	19.37:g.9058146T>C	ENSP00000381008:p.Lys9767Arg						p.K9767R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	29504	-			9769			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29300A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.720	0.501527	0.12822	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.81	-4.95	0.03048	.	.	.	.	.	T	0.12305	0.0299	N	0.24115	0.695	.	.	.	B	0.20052	0.041	B	0.15052	0.012	T	0.29212	-1.0019	8	0.87932	D	0	.	1.2289	0.01939	0.1526:0.2422:0.3669:0.2383	.	9767	B5ME49	.	R	9767	ENSP00000381008:K9767R	ENSP00000381008:K9767R	K	-	2	0	MUC16	8919146	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.838000	0.04372	-1.217000	0.02604	-0.385000	0.06624	AAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9084687	9084687	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9084687G>A	ENST00000397910.4	-	1	7331	c.7128C>T	c.(7126-7128)acC>acT	p.T2376T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2376	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)				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						AAGCTATGGAGGTGTTGATCA	0.438																																						uc002mkp.3																			0				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						c.(7126-7128)acC>acT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							136.0	132.0	133.0					19																	9084687		1953	4153	6106	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084687G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7128C>T	19.37:g.9084687G>A							p.T2376T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	7332	-			2376			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.7128C>T	CCDS54212.1																																																																																				0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
IFNL3	282617	broad.mit.edu	37	19	39734655	39734655	+	Missense_Mutation	SNP	C	C	T	rs540120208	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:39734655C>T	ENST00000413851.2	-	3	439	c.401G>A	c.(400-402)cGg>cAg	p.R134Q		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	134					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CACACAGGCCCGGAGCTGGGA	0.667													C|||	2	0.000399361	0.0	0.0	5008	,	,		16020	0.0		0.0	False		,,,				2504	0.002					uc010xut.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(400-402)cGg>cAg		Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.							51.0	57.0	55.0					19																	39734655		2203	4300	6503	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734655C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.401G>A	19.37:g.39734655C>T	ENSP00000409000:p.Arg134Gln					IL28B_uc010xuu.2_Missense_Mutation_p.R134Q	p.R134Q	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	403	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		134					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.401G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.478765	0.01035	.	.	ENSG00000197110	ENST00000413851	T	0.28255	1.62	3.95	-0.975	0.10289	.	1.155750	0.06241	N	0.690477	T	0.08447	0.0210	N	0.00926	-1.1	0.53688	D	0.999971	B	0.20550	0.046	B	0.09377	0.004	T	0.50583	-0.8811	10	0.02654	T	1	-7.6864	7.6929	0.28577	0.0:0.5486:0.0:0.4514	.	134	Q8IZI9	IL28B_HUMAN	Q	134	ENSP00000409000:R134Q	ENSP00000409000:R134Q	R	-	2	0	IL28B	44426495	0.005000	0.15991	0.314000	0.25224	0.349000	0.29174	-0.667000	0.05274	-0.187000	0.10516	0.205000	0.17691	CGG		0.667	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139	
KLC3	147700	broad.mit.edu	37	19	45853908	45853908	+	Missense_Mutation	SNP	C	C	T	rs373353596		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:45853908C>T	ENST00000391946.2	+	11	1384	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Missense_Mutation_p.R427C|KLC3_ENST00000470402.1_Missense_Mutation_p.R442C	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	428					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCCTTCGCCGCAGCAGCTC	0.692																																						uc002pbg.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(1324-1326)Cgc>Tgc		Homo sapiens kinesin light chain 3 (KLC3), mRNA.		C	CYS/ARG	1,3819		0,1,1909	21.0	25.0	24.0		1282	2.5	0.6	19		24	0,8226		0,0,4113	no	missense	KLC3	NM_177417.2	180	0,1,6022	TT,TC,CC		0.0,0.0262,0.0083	probably-damaging	428/505	45853908	1,12045	1910	4113	6023	SO:0001583	missense	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45853908C>T	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1282C>T	19.37:g.45853908C>T	ENSP00000375810:p.Arg428Cys					KLC3_uc002pbf.1_Missense_Mutation_p.R428C|KLC3_uc010ejy.1_Missense_Mutation_p.R427C	p.R442C	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	9	1424	+		Ovarian(192;0.0728)|all_neural(266;0.112)	428					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	c.1324C>T	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436179	0.43224	2.62E-4	0.0	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.88354	-2.37;-2.3	3.68	2.5	0.30297	.	0.077009	0.51477	D	0.000088	D	0.91503	0.7317	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.90089	0.4176	10	0.87932	D	0	-13.2488	8.0044	0.30317	0.3417:0.6583:0.0:0.0	.	427;442;428	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	C	428;442	ENSP00000375810:R428C;ENSP00000436019:R442C	ENSP00000375810:R428C	R	+	1	0	KLC3	50545748	0.102000	0.21896	0.596000	0.28811	0.463000	0.32649	0.468000	0.22051	0.662000	0.31006	0.455000	0.32223	CGC		0.692	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275	
TMEM143	55260	broad.mit.edu	37	19	48845929	48845929	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:48845929C>T	ENST00000293261.3	-	6	1149	c.833G>A	c.(832-834)cGc>cAc	p.R278H	TMEM143_ENST00000435956.3_Missense_Mutation_p.R243H|TMEM143_ENST00000541566.1_Missense_Mutation_p.R168H|TMEM143_ENST00000377431.2_Missense_Mutation_p.R178H|TMEM143_ENST00000436660.2_Missense_Mutation_p.R213H	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	278					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GAGCAGGGCGCGCTGCAGGGT	0.637																																						uc002pix.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(832-834)cGc>cAc		Homo sapiens transmembrane protein 143 (TMEM143), mRNA.							61.0	51.0	55.0					19																	48845929		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48845929C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.833G>A	19.37:g.48845929C>T	ENSP00000293261:p.Arg278His					TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|Mir_324_uc021uws.1_5'Flank	p.R278H	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	5	842	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	278					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.833G>A	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631562	0.87660	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50277	0.75;0.77;0.76	4.63	4.63	0.57726	.	0.210372	0.29624	N	0.011622	T	0.62060	0.2397	L	0.47716	1.5	0.33103	D	0.539482	D;P;D;D	0.89917	1.0;0.923;1.0;1.0	D;B;D;D	0.87578	0.998;0.308;0.949;0.98	T	0.68588	-0.5369	10	0.38643	T	0.18	-5.5042	16.6974	0.85339	0.0:1.0:0.0:0.0	.	213;178;243;278	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	H	278;178;243;213;168	ENSP00000293261:R278H;ENSP00000397038:R243H;ENSP00000444275:R168H	ENSP00000293261:R278H	R	-	2	0	TMEM143	53537741	0.876000	0.30132	0.980000	0.43619	0.995000	0.86356	1.496000	0.35638	2.301000	0.77427	0.456000	0.33151	CGC		0.637	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273	
TMEM150B	284417	broad.mit.edu	37	19	55828201	55828201	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:55828201G>A	ENST00000326652.4	-	7	640	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM150B_ENST00000438693.1_Missense_Mutation_p.P153L	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	153						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CAGGCGGAGGGGCCCAATCCA	0.617																																						uc010esw.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(457-459)cCc>cTc		Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.							17.0	20.0	19.0					19																	55828201		1954	4122	6076	SO:0001583	missense	284417					integral to membrane		g.chr19:55828201G>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.458C>T	19.37:g.55828201G>A	ENSP00000320757:p.Pro153Leu					TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	p.P153L	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			6	631	-			153					B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.458C>T	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	1.411	-0.575485	0.03882	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.39787	1.06;1.06	4.77	-3.75	0.04372	.	0.367632	0.27052	N	0.021169	T	0.24275	0.0588	L	0.40543	1.245	0.09310	N	0.999997	B	0.28552	0.215	B	0.33196	0.159	T	0.33445	-0.9868	10	0.11485	T	0.65	-0.1776	4.9034	0.13786	0.3386:0.2601:0.4014:0.0	.	153	A6NC51	T150B_HUMAN	L	153	ENSP00000320757:P153L;ENSP00000412658:P153L	ENSP00000320757:P153L	P	-	2	0	TMEM150B	60520013	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.049000	0.14099	-0.725000	0.04901	-0.291000	0.09656	CCC		0.617	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488	
DCTN1	1639	broad.mit.edu	37	2	74598790	74598790	+	Silent	SNP	C	C	T	rs376565787		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:74598790C>T	ENST00000361874.3	-	8	836	c.519G>A	c.(517-519)gcG>gcA	p.A173A	DCTN1_ENST00000407639.2_Silent_p.A39A|DCTN1_ENST00000409240.1_Silent_p.A136A|DCTN1_ENST00000394003.3_Silent_p.A166A|DCTN1_ENST00000409438.1_Silent_p.A39A|DCTN1_ENST00000409567.3_Silent_p.A153A|DCTN1_ENST00000409868.1_Silent_p.A156A	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	173	Ser-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CACCTGCTGACGCTGAGCCAG	0.652																																						uc002skx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(517-519)gcG>gcA		Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.		C	,,,,,	0,4402		0,0,2201	15.0	18.0	17.0		459,117,408,498,519,117	-8.3	0.9	2		17	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	,,,,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	153/1254,39/1140,136/1237,166/1272,173/1279,39/1145	74598790	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598790C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.519G>A	2.37:g.74598790C>T						DCTN1_uc002skv.3_Silent_p.A39A|DCTN1_uc002sku.3_Silent_p.A39A|DCTN1_uc002skw.2_Silent_p.A166A|DCTN1_uc010ffd.3_Silent_p.A153A|DCTN1_uc002sky.3_Silent_p.A136A	p.A173A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			7	837	-			173			Ser-rich.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.519G>A	CCDS1939.1																																																																																				0.652	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
IL1RL2	8808	broad.mit.edu	37	2	102849423	102849423	+	Splice_Site	SNP	A	A	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:102849423A>T	ENST00000264257.2	+	10	1262	c.1136A>T	c.(1135-1137)gAt>gTt	p.D379V	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Splice_Site_p.D261V|IL1RL2_ENST00000539491.1_Splice_Site_p.D379V	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	379					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCTTTTCAGATGGGAAGCTG	0.507																																						uc002tbs.3																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.e10-1		Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.							97.0	89.0	92.0					2																	102849423		2203	4300	6503	SO:0001630	splice_region_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849423A>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1136-1A>T	2.37:g.102849423A>T						IL1RL2_uc002tbt.3_Splice_Site_p.D261_splice	p.D379_splice	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			10	1262	+			379					A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1136_splice	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503773	0.64298	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.02737	4.18;4.18;4.18	5.93	5.93	0.95920	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.174026	0.48767	D	0.000173	T	0.18383	0.0441	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00307	-1.1830	9	.	.	.	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	261;379	A4FU63;Q9HB29	.;ILRL2_HUMAN	V	379;261;379	ENSP00000264257:D379V;ENSP00000413348:D261V;ENSP00000442184:D379V	.	D	+	2	0	IL1RL2	102215855	1.000000	0.71417	0.978000	0.43139	0.444000	0.32077	5.281000	0.65609	2.263000	0.75096	0.533000	0.62120	GAT		0.507	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	Missense_Mutation
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																						uc002tkh.3																			0											c.(616-618)Cac>Gac		Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript	p.H206D							4	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
TTN	7273	broad.mit.edu	37	2	179446667	179446667	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179446667G>A	ENST00000591111.1	-	265	61730	c.61506C>T	c.(61504-61506)gaC>gaT	p.D20502D	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.D13203D|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.D22143D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.D19575D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.D13078D|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.D13270D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20502	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(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)			CCTTGGATGCGTCACTGGGTT	0.438																																						uc021vsy.1																			4	Substitution - coding silent(4)	p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(1)	prostate(4)	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						c.(58723-58725)gaC>gaT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84.0	80.0	81.0					2																	179446667		1913	4133	6046	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446667G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61506C>T	2.37:g.179446667G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D13270D|TTN_uc021vta.1_Silent_p.D13203D|TTN_uc021vtb.1_Silent_p.D13078D	p.D19575D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		263	58950	-			20502			Ig-like 109.		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.58725C>T																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179666963	179666963	+	Missense_Mutation	SNP	G	G	A	rs372755739		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179666963G>A	ENST00000591111.1	-	3	421	c.197C>T	c.(196-198)aCg>aTg	p.T66M	TTN_ENST00000359218.5_Missense_Mutation_p.T66M|TTN_ENST00000589042.1_Missense_Mutation_p.T66M|TTN_ENST00000342992.6_Missense_Mutation_p.T66M|TTN_ENST00000460472.2_Missense_Mutation_p.T66M|TTN_ENST00000342175.6_Missense_Mutation_p.T66M|TTN_ENST00000360870.5_Missense_Mutation_p.T66M			Q8WZ42	TITIN_HUMAN	titin	32678	Ig-like 1.				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)			GGCGGGGATCGTCAGTTTAGC	0.547																																						uc021vsy.1																			0				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						c.(196-198)aCg>aTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	130.0	115.0	120.0		197,197,197,197,197	-2.0	0.9	2		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	66/27119,66/27052,66/5605,66/33424,66/26927	179666963	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179666963G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.197C>T	2.37:g.179666963G>A	ENSP00000465570:p.Thr66Met					TTN_uc021vsz.1_Missense_Mutation_p.T66M|TTN_uc021vta.1_Missense_Mutation_p.T66M|TTN_uc021vtb.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M|TTN_uc002und.3_Missense_Mutation_p.T66M	p.T66M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		2	422	-			66			Ig-like 1.		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.197C>T		.	.	.	.	.	.	.	.	.	.	G	9.946	1.218826	0.22373	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.74	-1.97	0.07503	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58736	0.2143	M	0.68317	2.08	0.24357	N	0.994892	B;B;B;B;B	0.28082	0.014;0.014;0.049;0.014;0.2	B;B;B;B;B	0.16289	0.006;0.006;0.006;0.006;0.015	T	0.49844	-0.8896	9	0.87932	D	0	.	8.6829	0.34221	0.6679:0.0:0.2151:0.1171	.	66;66;66;66;66	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	66	ENSP00000343764:T66M;ENSP00000434586:T66M;ENSP00000340554:T66M;ENSP00000352154:T66M;ENSP00000354117:T66M	ENSP00000340554:T66M	T	-	2	0	TTN	179375208	0.124000	0.22315	0.881000	0.34555	0.547000	0.35210	-0.376000	0.07465	-0.770000	0.04614	-1.083000	0.02208	ACG		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SIRPD	128646	broad.mit.edu	37	20	1517818	1517818	+	Missense_Mutation	SNP	C	C	T	rs181823552	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:1517818C>T	ENST00000381623.3	-	3	1749	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.R188Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	187						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCCCAGCAGCCGGAGGCAGCA	0.612													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17797	0.0		0.0	False		,,,				2504	0.001					uc002wfi.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(559-561)cGg>cAg		Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	101.0	105.0		560	1.9	1.0	20		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIRPD	NM_178460.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	187/198	1517818	2,13004	2203	4300	6503	SO:0001583	missense	128646					extracellular region		g.chr20:1517818C>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.560G>A	20.37:g.1517818C>T	ENSP00000371036:p.Arg187Gln						p.R187Q	NM_178460	NP_848555	Q9H106	SIRPD_HUMAN			2	604	-			187					B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	c.560G>A	CCDS13018.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	6.298|6.298	0.423044|0.423044	0.11928|0.11928	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000125900|ENSG00000125900	ENST00000429387|ENST00000381623;ENST00000381621	.|T;T	.|0.01918	.|4.56;4.61	2.83|2.83	1.88|1.88	0.25563|0.25563	.|.	.|5.151010	.|0.00786	.|U	.|0.001302	T|T	0.01592|0.01592	0.0051|0.0051	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999961|0.999961	.|B	.|0.31193	.|0.312	.|B	.|0.09377	.|0.004	T|T	0.35724|0.35724	-0.9777|-0.9777	5|10	.|0.66056	.|D	.|0.02	.|.	5.5441|5.5441	0.17053|0.17053	0.0:0.8455:0.0:0.1545|0.0:0.8455:0.0:0.1545	.|.	.|187	.|Q9H106	.|SIRPD_HUMAN	S|Q	70|187;188	.|ENSP00000371036:R187Q;ENSP00000371034:R188Q	.|ENSP00000371034:R188Q	G|R	-|-	1|2	0|0	SIRPD|SIRPD	1465818|1465818	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.341000|0.341000	0.28922|0.28922	0.588000|0.588000	0.23924|0.23924	0.745000|0.745000	0.32763|0.32763	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.612	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460	
MROH8	140699	broad.mit.edu	37	20	35776290	35776290	+	Missense_Mutation	SNP	A	A	C	rs553957738		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:35776290A>C	ENST00000400441.3	-	10	1096	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	MROH8_ENST00000441008.2_Missense_Mutation_p.L352R|MROH8_ENST00000217333.8_Missense_Mutation_p.L246R			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	251																	TAGGTGTCCAAGTCTTTGGAA	0.478																																						uc010zvu.2																			0		p.R366R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1096-1098)cTt>cGt		Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.							53.0	55.0	54.0					20																	35776290		1943	4130	6073	SO:0001583	missense	140699							g.chr20:35776290A>C	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1097T>G	20.37:g.35776290A>C	ENSP00000383291:p.Leu366Arg					C20orf132_uc002xgk.3_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L366R|C20orf132_uc002xgn.2_Missense_Mutation_p.L331R	p.L366R	NM_152503	NP_689716	Q9H579	CT132_HUMAN			10	1188	-		Myeloproliferative disorder(115;0.00878)	251					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1097T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.41|18.41	3.618095|3.618095	0.66787|0.66787	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811;ENST00000400440	T;T;T|T;T	0.13778|0.12672	2.56;2.56;2.56|2.66;2.66	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000006|0.000006	T|T	0.29321|0.29321	0.0730|0.0730	M|M	0.68952|0.68952	2.095|2.095	0.43246|0.43246	D|D	0.995168|0.995168	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.999|.	T|T	0.01276|0.01276	-1.1398|-1.1398	10|8	0.87932|0.72032	D|D	0|0.01	-12.5217|-12.5217	12.3215|12.3215	0.54987|0.54987	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	366;251;376;251|.	E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.;CT132_HUMAN;.;.|.	R|V	352;366;246|393;397	ENSP00000392144:L352R;ENSP00000383291:L366R;ENSP00000217333:L246R|ENSP00000339971:L393V;ENSP00000383290:L397V	ENSP00000217333:L246R|ENSP00000339971:L393V	L|L	-|-	2|1	0|2	C20orf132|C20orf132	35209704|35209704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	4.207000|4.207000	0.58480|0.58480	2.178000|2.178000	0.69098|0.69098	0.528000|0.528000	0.53228|0.53228	CTT|TTG		0.478	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
PLXNB2	23654	broad.mit.edu	37	22	50717405	50717405	+	Silent	SNP	G	G	A	rs200143109	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr22:50717405G>A	ENST00000449103.1	-	28	4565	c.4425C>T	c.(4423-4425)gaC>gaT	p.D1475D	PLXNB2_ENST00000359337.4_Silent_p.D1475D			O15031	PLXB2_HUMAN	plexin B2	1475					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGATGGCGTCCACTCCCT	0.622													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17847	0.0		0.001	False		,,,				2504	0.0					uc003bkv.4																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4423-4425)gaC>gaT		Homo sapiens plexin B2 (PLXNB2), mRNA.		G		0,4398		0,0,2199	117.0	120.0	119.0		4425	-8.5	0.0	22		119	6,8592	5.0+/-18.6	0,6,4293	no	coding-synonymous	PLXNB2	NM_012401.3		0,6,6492	AA,AG,GG		0.0698,0.0,0.0462		1475/1839	50717405	6,12990	2199	4299	6498	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50717405G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4425C>T	22.37:g.50717405G>A						PLXNB2_uc003bkt.1_Silent_p.D267D|PLXNB2_uc003bku.1_Silent_p.D460D	p.D1475D	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	27	4518	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1475					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4425C>T	CCDS43035.1																																																																																				0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	
DCLK3	85443	broad.mit.edu	37	3	36779980	36779980	+	Silent	SNP	G	G	A	rs188521258	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:36779980G>A	ENST00000416516.2	-	2	661	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	57						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGGGGTCTCGGTCTCCCCAC	0.617													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16602	0.001		0.0	False		,,,				2504	0.0					uc003cgi.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(169-171)acC>acT		Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.		G		1,3899		0,1,1949	78.0	82.0	80.0		171	-9.4	0.0	3		80	0,8294		0,0,4147	no	coding-synonymous	DCLK3	NM_033403.1		0,1,6096	AA,AG,GG		0.0,0.0256,0.0082		57/649	36779980	1,12193	1950	4147	6097	SO:0001819	synonymous_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779980G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.171C>T	3.37:g.36779980G>A							p.T57T	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			1	662	-			57						Silent	SNP	ENST00000416516.2	37	c.171C>T	CCDS43064.1																																																																																				0.617	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	
GOLGA4	2803	broad.mit.edu	37	3	37360647	37360647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:37360647C>T	ENST00000361924.2	+	12	1881	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.R525*|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	503	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTTCAGACCCGAGAAAGGGA	0.378																																						uc003cgv.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1507-1509)Cga>Tga		Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.							87.0	95.0	92.0					3																	37360647		2203	4300	6503	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37360647C>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1507C>T	3.37:g.37360647C>T	ENSP00000354486:p.Arg503*					GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.R384*	p.R503*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			11	1867	+			503			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.1507C>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	39	7.738879	0.98462	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	6.02	6.02	0.97574	.	0.538297	0.14074	N	0.343161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	15.2786	0.73764	0.1401:0.8599:0.0:0.0	.	.	.	.	X	503;525;374	.	ENSP00000349305:R525X	R	+	1	2	GOLGA4	37335651	0.679000	0.27596	0.571000	0.28486	0.951000	0.60555	2.501000	0.45389	2.865000	0.98341	0.655000	0.94253	CGA		0.378	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
VIPR1	7433	broad.mit.edu	37	3	42567437	42567437	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:42567437G>A	ENST00000325123.4	+	4	464	c.351G>A	c.(349-351)ccG>ccA	p.P117P	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Silent_p.P70P|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Silent_p.P76P|VIPR1-AS1_ENST00000602176.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	117					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGCCTGGCCCGTACCCCATTG	0.662																																						uc003clf.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(349-351)ccG>ccA		Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.							81.0	62.0	69.0					3																	42567437		2203	4300	6503	SO:0001819	synonymous_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42567437G>A	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.351G>A	3.37:g.42567437G>A						VIPR1_uc021wwl.1_Silent_p.P76P|VIPR1_uc011azn.2_Silent_p.P90P|VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR	p.P117P	NM_004624	NP_001238811	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	475	+			117					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	c.351G>A	CCDS2698.1																																																																																				0.662	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	
GRM2	2912	broad.mit.edu	37	3	51746533	51746533	+	Silent	SNP	C	C	T	rs200050063		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:51746533C>T	ENST00000395052.3	+	3	729	c.495C>T	c.(493-495)taC>taT	p.Y165Y	GRM2_ENST00000442933.2_Silent_p.Y165Y|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	165					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|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)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATTAGCTACGCCTCTACCA	0.532																																						uc010hlv.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(493-495)taC>taT		Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)	C	,	0,4406		0,0,2203	147.0	133.0	138.0		495,	-9.4	0.7	3		138	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,intron	GRM2	NM_000839.3,NM_001130063.1	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	165/873,	51746533	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746533C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.495C>T	3.37:g.51746533C>T						GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	p.Y165Y	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	734	+			165					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.495C>T	CCDS2834.1																																																																																				0.532	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		
TRAT1	50852	broad.mit.edu	37	3	108572525	108572525	+	Missense_Mutation	SNP	G	G	A	rs567522133	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:108572525G>A	ENST00000295756.6	+	6	592	c.362G>A	c.(361-363)cGt>cAt	p.R121H	TRAT1_ENST00000426646.1_Missense_Mutation_p.R84H	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	121					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAGGGGAAGCGTAGAAAGCCC	0.423													G|||	3	0.000599042	0.0	0.0	5008	,	,		21738	0.0		0.0	False		,,,				2504	0.0031					uc003dxi.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(361-363)cGt>cAt		Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.							121.0	107.0	112.0					3																	108572525		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572525G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.362G>A	3.37:g.108572525G>A	ENSP00000295756:p.Arg121His					TRAT1_uc010hpx.1_Missense_Mutation_p.R84H	p.R121H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	506	+			121					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.362G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850242	0.51270	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.48836	0.8;0.8	5.48	-1.48	0.08745	.	0.855602	0.10451	N	0.673059	T	0.26122	0.0637	N	0.21583	0.68	0.27357	N	0.956068	B;B	0.24533	0.054;0.105	B;B	0.17433	0.011;0.018	T	0.16276	-1.0408	10	0.41790	T	0.15	-13.2171	2.281	0.04114	0.1611:0.3753:0.2826:0.1809	.	84;121	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	H	121;84	ENSP00000295756:R121H;ENSP00000410097:R84H	ENSP00000295756:R121H	R	+	2	0	TRAT1	110055215	0.000000	0.05858	0.747000	0.31113	0.593000	0.36681	-1.796000	0.01750	-0.293000	0.08986	-0.140000	0.14226	CGT		0.423	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388	
GPR156	165829	broad.mit.edu	37	3	119962857	119962857	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:119962857G>A	ENST00000464295.1	-	2	534	c.89C>T	c.(88-90)aCa>aTa	p.T30I	GPR156_ENST00000461057.1_Missense_Mutation_p.T30I|GPR156_ENST00000315843.3_Missense_Mutation_p.T30I			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACAATTGTTGTCTTGCAGAG	0.537																																						uc011bjf.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(88-90)aCa>aTa		Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.							92.0	77.0	82.0					3																	119962857		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962857G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.89C>T	3.37:g.119962857G>A	ENSP00000417261:p.Thr30Ile					GPR156_uc011bjg.2_Missense_Mutation_p.T30I	p.T30I	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	0	469	-			30					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.89C>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324899	0.24080	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22945	1.93;1.93;1.93	4.96	4.07	0.47477	.	0.160723	0.29707	N	0.011418	T	0.12603	0.0306	N	0.17082	0.46	0.28706	N	0.903803	B;B	0.32203	0.36;0.36	B;B	0.24269	0.052;0.052	T	0.09684	-1.0663	9	.	.	.	-3.8559	9.3691	0.38244	0.0994:0.0:0.9006:0.0	.	30;30	E9PFZ4;Q8NFN8	.;GP156_HUMAN	I	30	ENSP00000417261:T30I;ENSP00000324553:T30I;ENSP00000418758:T30I	.	T	-	2	0	GPR156	121445547	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.841000	0.39240	2.563000	0.86464	0.555000	0.69702	ACA		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
DBR1	51163	broad.mit.edu	37	3	137890532	137890532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:137890532G>A	ENST00000260803.4	-	3	499	c.346C>T	c.(346-348)Cga>Tga	p.R116*	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	116					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CTTACACCTCGGTATTTTACC	0.343																																						uc003erv.3																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(346-348)Cga>Tga		Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.							86.0	87.0	87.0					3																	137890532		2203	4300	6503	SO:0001587	stop_gained	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137890532G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.346C>T	3.37:g.137890532G>A	ENSP00000260803:p.Arg116*					DBR1_uc003eru.3_Nonsense_Mutation_p.R65*	p.R116*	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			2	500	-			116					Q96GH0|Q9NXQ6	Nonsense_Mutation	SNP	ENST00000260803.4	37	c.346C>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	36	5.788409	0.96945	.	.	ENSG00000138231	ENST00000260803	.	.	.	5.77	5.77	0.91146	.	0.063428	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-13.4936	17.4888	0.87696	0.0:0.0:1.0:0.0	.	.	.	.	X	116	.	ENSP00000260803:R116X	R	-	1	2	DBR1	139373222	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.785000	0.62418	2.727000	0.93392	0.655000	0.94253	CGA		0.343	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		
CLSTN2	64084	broad.mit.edu	37	3	140185512	140185512	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:140185512G>A	ENST00000458420.3	+	8	1473	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	428					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTCTCTTGCGGAAGGACTTC	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1282-1284)cGg>cAg		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.							80.0	73.0	75.0					3																	140185512		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140185512G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1283G>A	3.37:g.140185512G>A	ENSP00000402460:p.Arg428Gln	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q	p.R428Q	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			7	1473	+			428					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1283G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724618	0.96847	.	.	ENSG00000158258	ENST00000458420	T	0.74106	-0.81	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.112601	0.64402	D	0.000019	T	0.79839	0.4515	M	0.79805	2.47	0.80722	D	1	D	0.53462	0.96	P	0.46940	0.532	T	0.82955	-0.0200	10	0.56958	D	0.05	-15.0041	16.2867	0.82725	0.0:0.0:1.0:0.0	.	428	Q9H4D0	CSTN2_HUMAN	Q	428	ENSP00000402460:R428Q	ENSP00000402460:R428Q	R	+	2	0	CLSTN2	141668202	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.657000	0.98554	2.706000	0.92434	0.655000	0.94253	CGG		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
ZBBX	79740	broad.mit.edu	37	3	167083682	167083682	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:167083682C>A	ENST00000392766.2	-	6	605	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	ZBBX_ENST00000392764.1_Missense_Mutation_p.V60F|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.V89F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V89F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V89F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	89						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACCTTAACAACATTTCCTTTA	0.294																																						uc011bpc.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(265-267)Gtt>Ttt		Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.							99.0	95.0	96.0					3																	167083682		1825	4066	5891	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167083682C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.265G>T	3.37:g.167083682C>A	ENSP00000376519:p.Val89Phe					ZBBX_uc003feq.3_Missense_Mutation_p.V60F|ZBBX_uc003fep.3_Missense_Mutation_p.V89F	p.V89F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN			5	602	-			89					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.265G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584755	0.28268	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.31769	2.99;2.99;3.0;3.0;2.82;1.48	5.21	-3.11	0.05299	.	.	.	.	.	T	0.14141	0.0342	N	0.16478	0.41	0.23889	N	0.996554	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.003	T	0.24977	-1.0145	9	0.54805	T	0.06	0.591	1.4118	0.02293	0.3586:0.2613:0.2346:0.1455	.	89;89	A8MT70-2;A8MT70	.;ZBBX_HUMAN	F	89;89;89;89;60;89	ENSP00000376519:V89F;ENSP00000376520:V89F;ENSP00000390232:V89F;ENSP00000305065:V89F;ENSP00000376517:V60F;ENSP00000419307:V89F	ENSP00000305065:V89F	V	-	1	0	ZBBX	168566376	0.001000	0.12720	0.425000	0.26659	0.272000	0.26649	-1.369000	0.02578	-0.478000	0.06823	0.567000	0.79289	GTT		0.294	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
FRYL	285527	broad.mit.edu	37	4	48559529	48559529	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:48559529A>C	ENST00000503238.1	-	31	4065	c.4066T>G	c.(4066-4068)Tgg>Ggg	p.W1356G	FRYL_ENST00000537810.1_Missense_Mutation_p.W1356G|FRYL_ENST00000358350.4_Missense_Mutation_p.W1356G|FRYL_ENST00000507711.1_Missense_Mutation_p.W1356G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.W1356G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGAGATCCCCATCCTTCTCCC	0.423																																						uc003gyh.1																			1	Substitution - Missense(1)	p.W1356G(2)	skin(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4066-4068)Tgg>Ggg		Homo sapiens FRY-like (FRYL), mRNA.							138.0	139.0	138.0					4																	48559529		1905	4125	6030	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48559529A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4066T>G	4.37:g.48559529A>C	ENSP00000426064:p.Trp1356Gly					FRYL_uc003gyk.3_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G	p.W1356G	NM_015030	NP_055845	O94915	FRYL_HUMAN			33	4671	-			1356					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.4066T>G	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.345972|4.345972	0.82022|0.82022	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.|T;T;T;T	.|0.52526	.|1.58;1.58;1.58;0.66	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71195|0.71195	0.3311|0.3311	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;B;D;D	.|0.89917	.|0.985;0.268;1.0;1.0	.|D;B;D;D	.|0.97110	.|0.973;0.437;1.0;0.999	T|T	0.75306|0.75306	-0.3364|-0.3364	5|10	.|0.72032	.|D	.|0.01	.|.	16.2713|16.2713	0.82622|0.82622	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1356;187;1356;1356	.|F2Z2S2;Q6ZR29;O94915;F5GX82	.|.;.;FRYL_HUMAN;.	R|G	226|1356	.|ENSP00000426064:W1356G;ENSP00000351113:W1356G;ENSP00000441114:W1356G;ENSP00000421584:W1356G	.|ENSP00000351113:W1356G	M|W	-|-	2|1	0|0	FRYL|FRYL	48254286|48254286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	9.303000|9.303000	0.96183|0.96183	2.232000|2.232000	0.73038|0.73038	0.528000|0.528000	0.53228|0.53228	ATG|TGG		0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
CWH43	80157	broad.mit.edu	37	4	49040170	49040170	+	Silent	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:49040170A>C	ENST00000226432.4	+	13	1959	c.1776A>C	c.(1774-1776)ctA>ctC	p.L592L	CWH43_ENST00000513409.1_Silent_p.L565L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	592					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGATTATCTACAGCTCACTG	0.323																																						uc003gyv.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1774-1776)ctA>ctC		Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.							127.0	136.0	133.0					4																	49040170		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49040170A>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1776A>C	4.37:g.49040170A>C						CWH43_uc011bzl.2_Silent_p.L565L	p.L592L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			12	1958	+			592					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1776A>C	CCDS3486.1																																																																																				0.323	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
CSN2	1447	broad.mit.edu	37	4	70823249	70823249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:70823249G>T	ENST00000353151.3	-	5	429	c.418C>A	c.(418-420)Cat>Aat	p.H140N		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGAGGAAGATGCAGATTTTCA	0.507																																						uc003hes.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(418-420)Cat>Aat		Homo sapiens casein beta (CSN2), mRNA.							90.0	96.0	94.0					4																	70823249		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823249G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.418C>A	4.37:g.70823249G>T	ENSP00000341030:p.His140Asn					CSN2_uc003het.4_Missense_Mutation_p.H139N	p.H140N	NM_001891	NP_001882	P05814	CASB_HUMAN			4	431	-			140	H -> Q (in Ref. 3; CAA34916).				O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.418C>A	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319123	0.41096	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.59	1.73	0.24493	.	1.017480	0.07855	N	0.965277	T	0.36524	0.0970	L	0.60455	1.87	0.09310	N	1	B	0.26547	0.152	B	0.24701	0.055	T	0.40924	-0.9537	9	0.62326	D	0.03	-15.2685	2.7829	0.05366	0.1044:0.1785:0.5327:0.1843	.	140	P05814	CASB_HUMAN	N	140	.	ENSP00000341030:H140N	H	-	1	0	CSN2	70857838	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.755000	0.26405	0.349000	0.23975	-0.172000	0.13284	CAT		0.507	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1		
WDFY3	23001	broad.mit.edu	37	4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:85719250C>T	ENST00000295888.4	-	18	3241	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H	WDFY3_ENST00000322366.6_Missense_Mutation_p.R945H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	945					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R945H(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313																																						uc003hpd.3																			1	Substitution - Missense(1)	p.R945H(2)	prostate(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2833-2835)cGt>cAt		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							101.0	101.0	101.0					4																	85719250		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85719250C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2834G>A	4.37:g.85719250C>T	ENSP00000295888:p.Arg945His						p.R945H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	17	3242	-		Hepatocellular(203;0.114)	945					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2834G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114865	0.94339	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62105	0.05;0.05	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.79329	-0.1848	10	0.66056	D	0.02	.	19.7348	0.96198	0.0:1.0:0.0:0.0	.	945	Q8IZQ1	WDFY3_HUMAN	H	945	ENSP00000318466:R945H;ENSP00000295888:R945H	ENSP00000295888:R945H	R	-	2	0	WDFY3	85938274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.442000	0.80503	2.716000	0.92895	0.655000	0.94253	CGT		0.313	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
ADAM29	11086	broad.mit.edu	37	4	175898963	175898963	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:175898963G>C	ENST00000359240.3	+	5	2957	c.2287G>C	c.(2287-2289)Gtg>Ctg	p.V763L	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V763L|ADAM29_ENST00000445694.1_Missense_Mutation_p.V763L|ADAM29_ENST00000404450.4_Missense_Mutation_p.V763L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	763	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V763M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCAACCTCCTGTGACACCCTC	0.567																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			1	Substitution - Missense(1)	p.V763M(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2287-2289)Gtg>Ctg		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							171.0	149.0	156.0					4																	175898963		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898963G>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2287G>C	4.37:g.175898963G>C	ENSP00000352177:p.Val763Leu					ADAM29_uc003iud.3_Missense_Mutation_p.V763L|ADAM29_uc010irr.3_Missense_Mutation_p.V763L|ADAM29_uc011cki.2_Missense_Mutation_p.V763L|ADAM29_uc021xuo.1_Missense_Mutation_p.V763L	p.V763L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	2957	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	763			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2287G>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	g	4.901	0.167356	0.09339	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01804	4.63;4.63;4.63;4.63	0.537	-0.478	0.12093	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.28850	0.225	B	0.17433	0.018	T	0.48681	-0.9014	8	.	.	.	.	3.7153	0.08435	0.6278:0.0:0.3722:0.0	.	763	Q9UKF5	ADA29_HUMAN	L	763	ENSP00000352177:V763L;ENSP00000414544:V763L;ENSP00000384229:V763L;ENSP00000423517:V763L	.	V	+	1	0	ADAM29	176135538	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	0.111000	0.15458	-0.273000	0.09246	0.297000	0.19635	GTG		0.567	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
PIK3R1	5295	broad.mit.edu	37	5	67591246	67591246	+	Splice_Site	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:67591246A>G	ENST00000521381.1	+	14	2361		c.e14-1		PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		12	Unknown(10)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.?(10)|p.Y580fs*1(1)|p.0?(1)	endometrium(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e14-2		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						150.0	148.0	149.0					5																	67591246		2203	4300	6503	SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591246A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1746-1A>G	5.37:g.67591246A>G		TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	p.M582_splice	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2326	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	582					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP	ENST00000521381.1	37	c.1746_splice	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060385	0.76074	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6086	0.68498	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67627002	1.000000	0.71417	0.981000	0.43875	0.926000	0.56050	9.105000	0.94246	2.036000	0.60181	0.377000	0.23210	.		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron
SLCO6A1	133482	broad.mit.edu	37	5	101709074	101709074	+	Silent	SNP	T	T	C	rs146381310	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:101709074T>C	ENST00000506729.1	-	13	2313	c.2142A>G	c.(2140-2142)aaA>aaG	p.K714K	SLCO6A1_ENST00000379807.3_Silent_p.K714K|SLCO6A1_ENST00000513675.1_Silent_p.K461K|SLCO6A1_ENST00000379810.1_Silent_p.K461K|SLCO6A1_ENST00000389019.3_Silent_p.K652K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	714						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGTTTCTTCTTTTTTCTTAA	0.274													T|||	2	0.000399361	0.0	0.0	5008	,	,		12766	0.0		0.002	False		,,,				2504	0.0					uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2140-2142)aaA>aaG		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.		T		6,4398	11.4+/-27.6	0,6,2196	126.0	130.0	129.0		2142	-6.7	0.0	5	dbSNP_134	129	11,8585	7.1+/-27.0	0,11,4287	no	coding-synonymous	SLCO6A1	NM_173488.3		0,17,6483	CC,CT,TT		0.128,0.1362,0.1308		714/720	101709074	17,12983	2202	4298	6500	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101709074T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2142A>G	5.37:g.101709074T>C						SLCO6A1_uc003kno.3_Silent_p.K461K|SLCO6A1_uc003knp.3_Silent_p.K714K|SLCO6A1_uc003knq.3_Silent_p.K652K	p.K714K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	12	2314	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	714					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.2142A>G	CCDS34206.1																																																																																				0.274	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PCDHA11	56138	broad.mit.edu	37	5	140249928	140249928	+	Missense_Mutation	SNP	C	C	A	rs375366430		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140249928C>A	ENST00000398640.2	+	1	1240	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	414	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)			CGCCCTGGACCGCGAGAACGT	0.627																																						uc003lia.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1240-1242)Cgc>Agc		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.							156.0	153.0	154.0					5																	140249928		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140249928C>A	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.1240C>A	5.37:g.140249928C>A	ENSP00000381636:p.Arg414Ser					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R414S	p.R414S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2098	+			429			Cadherin 4.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1240C>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451941	0.43531	.	.	ENSG00000249158	ENST00000398640	T	0.59638	0.25	5.7	3.89	0.44902	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84156	0.5410	H	0.97340	3.985	0.29594	N	0.848171	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.83718	0.0191	9	0.87932	D	0	.	14.6492	0.68784	0.266:0.734:0.0:0.0	.	414;414	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	414	ENSP00000381636:R414S	ENSP00000381636:R414S	R	+	1	0	PCDHA11	140230112	0.493000	0.26035	0.975000	0.42487	0.244000	0.25665	0.739000	0.26173	0.714000	0.32081	0.563000	0.77884	CGC		0.627	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHA11	56138	broad.mit.edu	37	5	140250294	140250294	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140250294G>A	ENST00000398640.2	+	1	1606	c.1606G>A	c.(1606-1608)Gcg>Acg	p.A536T	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGATGC	0.672																																						uc003lia.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1606-1608)Gcg>Acg		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.							66.0	74.0	71.0					5																	140250294		2202	4298	6500	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140250294G>A	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.1606G>A	5.37:g.140250294G>A	ENSP00000381636:p.Ala536Thr					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A536T	p.A536T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2464	+			551			Cadherin 5.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1606G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782481	0.90282	.	.	ENSG00000249158	ENST00000398640	T	0.75589	-0.95	5.15	5.15	0.70609	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91503	0.7317	H	0.97315	3.98	0.48901	D	0.999725	D;D	0.89917	1.0;1.0	D;D	0.85130	0.93;0.997	D	0.94546	0.7749	9	0.87932	D	0	.	18.2779	0.90089	0.0:0.0:1.0:0.0	.	536;536	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	536	ENSP00000381636:A536T	ENSP00000381636:A536T	A	+	1	0	PCDHA11	140230478	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	9.178000	0.94855	2.398000	0.81561	0.556000	0.70494	GCG		0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHB7	56129	broad.mit.edu	37	5	140553185	140553185	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140553185G>A	ENST00000231137.3	+	1	943	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATAGCCCCGTTGGTTCCAT	0.502																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(769-771)Gtt>Att		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							68.0	73.0	71.0					5																	140553185		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553185G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.769G>A	5.37:g.140553185G>A	ENSP00000231137:p.Val257Ile						p.V257I	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	943	+			257			Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.769G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.861739	0.00552	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.52754	0.65	4.61	-3.51	0.04696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26593	0.0650	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.24701	0.055	T	0.25328	-1.0135	9	0.24483	T	0.36	.	13.4977	0.61436	0.658:0.0:0.342:0.0	.	257	Q9Y5E2	PCDB7_HUMAN	I	257;40	ENSP00000231137:V257I	ENSP00000231137:V257I	V	+	1	0	PCDHB7	140533369	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.746000	0.00795	-0.796000	0.04456	-0.345000	0.07892	GTT		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB14	56122	broad.mit.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140605446G>A	ENST00000239449.4	+	1	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	790					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.3																			0		p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2368-2370)cGa>cAa		Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.							65.0	72.0	70.0					5																	140605446		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605446G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2369G>A	5.37:g.140605446G>A	ENSP00000239449:p.Arg790Gln						p.R790Q	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2369	+			790					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2369G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	11.35	1.613348	0.28712	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.13196	2.61;2.61	4.3	3.41	0.39046	.	.	.	.	.	T	0.13927	0.0337	L	0.59436	1.845	0.09310	N	1	B	0.20988	0.05	B	0.11329	0.006	T	0.18209	-1.0344	9	0.38643	T	0.18	.	7.2492	0.26140	0.0949:0.1742:0.7309:0.0	.	790	Q9Y5E9	PCDBE_HUMAN	Q	637;790	ENSP00000444518:R637Q;ENSP00000239449:R790Q	ENSP00000239449:R790Q	R	+	2	0	PCDHB14	140585630	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	-0.484000	0.06528	0.892000	0.36259	0.585000	0.79938	CGA		0.348	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
BTBD9	114781	broad.mit.edu	37	6	38256068	38256068	+	Silent	SNP	C	C	T	rs181693343		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:38256068C>T	ENST00000481247.1	-	8	1585	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	BTBD9_ENST00000403056.1_Silent_p.P478P|BTBD9_ENST00000408958.1_Silent_p.P410P|BTBD9_ENST00000314100.6_Silent_p.P410P|BTBD9_ENST00000419706.2_Silent_p.P448P	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	478					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAATCATGTACGGTTGTGCCA	0.398													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21399	0.0		0.0	False		,,,				2504	0.0					uc003ooa.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1432-1434)ccG>ccA		Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.							115.0	112.0	113.0					6																	38256068		2110	4237	6347	SO:0001819	synonymous_variant	114781				cell adhesion			g.chr6:38256068C>T		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1434G>A	6.37:g.38256068C>T						BTBD9_uc010jwv.3_Silent_p.P448P|BTBD9_uc003ony.4_Silent_p.P410P|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.P478P	p.P478P	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN			8	2010	-			478					Q494V9|Q494W1|Q96M00	Silent	SNP	ENST00000481247.1	37	c.1434G>A	CCDS47418.1																																																																																				0.398	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	
PKHD1	5314	broad.mit.edu	37	6	51524416	51524416	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:51524416A>G	ENST00000371117.3	-	61	10783	c.10508T>C	c.(10507-10509)cTc>cCc	p.L3503P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3503					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGGCTCTGGAGCTCATGGTA	0.438																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10507-10509)cTc>cCc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							64.0	64.0	64.0					6																	51524416		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524416A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10508T>C	6.37:g.51524416A>G	ENSP00000360158:p.Leu3503Pro						p.L3503P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			60	10784	-	Lung NSC(77;0.0605)		3503					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10508T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946554	0.34377	.	.	ENSG00000170927	ENST00000371117	D	0.84944	-1.92	5.72	3.38	0.38709	.	0.282420	0.29616	N	0.011657	T	0.50480	0.1618	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.50092	-0.8868	10	0.33940	T	0.23	.	5.6271	0.17488	0.6643:0.0:0.3357:0.0	.	3503	P08F94	PKHD1_HUMAN	P	3503	ENSP00000360158:L3503P	ENSP00000360158:L3503P	L	-	2	0	PKHD1	51632375	0.992000	0.36948	0.997000	0.53966	0.895000	0.52256	2.569000	0.45973	1.005000	0.39183	0.533000	0.62120	CTC		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
DOPEY1	23033	broad.mit.edu	37	6	83847935	83847935	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:83847935T>C	ENST00000349129.2	+	21	4434	c.4174T>C	c.(4174-4176)Ttg>Ctg	p.L1392L	DOPEY1_ENST00000369739.3_Silent_p.L1383L|DOPEY1_ENST00000237163.5_Silent_p.L1373L|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1392					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAAGCCATCTTGAAAACTAA	0.383																																						uc011dyy.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4147-4149)Ttg>Ctg		Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.							130.0	137.0	135.0					6																	83847935		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83847935T>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4174T>C	6.37:g.83847935T>C						DOPEY1_uc003pjs.1_Silent_p.L1392L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.3_Non-coding_Transcript	p.L1383L	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	20	4407	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1392					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.4147T>C	CCDS4996.1																																																																																				0.383	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
IKZF1	10320	broad.mit.edu	37	7	50468241	50468241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:50468241C>A	ENST00000331340.3	+	8	1631	c.1476C>A	c.(1474-1476)tgC>tgA	p.C492*	IKZF1_ENST00000439701.1_Nonsense_Mutation_p.C450*|IKZF1_ENST00000357364.4_Nonsense_Mutation_p.C405*|IKZF1_ENST00000359197.5_Nonsense_Mutation_p.C450*|IKZF1_ENST00000346667.4_Nonsense_Mutation_p.C262*|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.C405*|IKZF1_ENST00000349824.4_Nonsense_Mutation_p.C349*|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.C405*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	492					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTTTTGAGTGCAACATGTGCG	0.592			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.4				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1474-1476)tgC>tgA		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							47.0	53.0	51.0					7																	50468241		2191	4297	6488	SO:0001587	stop_gained	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468241C>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1476C>A	7.37:g.50468241C>A	ENSP00000331614:p.Cys492*					IKZF1_uc022acq.1_Nonsense_Mutation_p.C349*|IKZF1_uc003tpa.4_Nonsense_Mutation_p.C257*|IKZF1_uc022acr.1_Nonsense_Mutation_p.C267*|IKZF1_uc022acs.1_Nonsense_Mutation_p.C222*|IKZF1_uc022act.1_Nonsense_Mutation_p.C395*|IKZF1_uc022acu.1_Nonsense_Mutation_p.C405*|IKZF1_uc003tox.4_Nonsense_Mutation_p.C450*|IKZF1_uc022acv.1_Nonsense_Mutation_p.C353*|IKZF1_uc022acw.1_Nonsense_Mutation_p.C363*|IKZF1_uc022acx.1_Nonsense_Mutation_p.C405*|IKZF1_uc022acy.1_Nonsense_Mutation_p.C299*|IKZF1_uc022acz.1_Nonsense_Mutation_p.C309*|IKZF1_uc011kck.2_Nonsense_Mutation_p.C405*|IKZF1_uc003toy.4_Nonsense_Mutation_p.C450*|IKZF1_uc003toz.4_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.3_Nonsense_Mutation_p.C232*	p.C492*	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			7	1631	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	492					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Nonsense_Mutation	SNP	ENST00000331340.3	37	c.1476C>A		.	.	.	.	.	.	.	.	.	.	C	36	5.886240	0.97068	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	.	.	.	5.75	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.0926	9.7089	0.40233	0.0:0.7766:0.0:0.2234	.	.	.	.	X	262;405;450;349;405;492;405;450	.	ENSP00000331614:C492X	C	+	3	2	IKZF1	50435735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.161000	0.42358	0.759000	0.33084	0.655000	0.94253	TGC		0.592	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
BAIAP2L1	55971	broad.mit.edu	37	7	97944874	97944874	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:97944874T>C	ENST00000005260.8	-	7	752	c.537A>G	c.(535-537)gcA>gcG	p.A179A	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	179	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAACCATCTGCAATGAATT	0.358																																						uc003upj.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(535-537)gcA>gcG		Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.							110.0	110.0	110.0					7																	97944874		2203	4300	6503	SO:0001819	synonymous_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97944874T>C	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.537A>G	7.37:g.97944874T>C							p.A179A	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	800	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		179			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.537A>G	CCDS34687.1																																																																																				0.358	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
CLDN15	24146	broad.mit.edu	37	7	100877603	100877603	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:100877603T>C	ENST00000401528.1	-	3	1463	c.338A>G	c.(337-339)aAa>aGa	p.K113R	CLDN15_ENST00000308344.5_Missense_Mutation_p.K113R|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	113					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGCTTGGCTTTCCTGGAGAG	0.662																																						uc003uyg.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(337-339)aAa>aGa		Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.							51.0	58.0	56.0					7																	100877603		2203	4300	6503	SO:0001583	missense	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100877603T>C	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.338A>G	7.37:g.100877603T>C	ENSP00000385300:p.Lys113Arg					CLDN15_uc003uyh.2_Missense_Mutation_p.K113R|CLDN15_uc003uyi.3_3'UTR|CLDN15_uc022aja.1_3'UTR	p.K113R	NM_014343	NP_001172009	P56746	CLD15_HUMAN			1	703	-	Lung NSC(181;0.168)|all_lung(186;0.215)		113					B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	c.338A>G	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138812	0.77775	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000412417	D;D;T	0.88509	-2.39;-2.39;-0.26	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.94997	0.8381	M	0.89478	3.035	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.95708	0.8755	10	0.87932	D	0	.	13.5331	0.61633	0.0:0.0:0.0:1.0	.	113	P56746	CLD15_HUMAN	R	113;113;90	ENSP00000308870:K113R;ENSP00000385300:K113R;ENSP00000390230:K90R	ENSP00000308870:K113R	K	-	2	0	CLDN15	100664323	1.000000	0.71417	0.989000	0.46669	0.289000	0.27227	7.037000	0.76531	2.074000	0.62210	0.459000	0.35465	AAA		0.662	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343	
GRM8	2918	broad.mit.edu	37	7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1297-1299)cGa>cAa		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						142.0	129.0	134.0					7																	126409978		2203	4299	6502	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126409978C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1298G>A	7.37:g.126409978C>T	ENSP00000344173:p.Arg433Gln	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q	p.R433Q	NM_000845	NP_000836	O00222	GRM8_HUMAN			5	1609	-		Prostate(267;0.186)	433					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1298G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848477	0.51164	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	N	0.12471	0.22	0.50632	D	0.999884	B;B;B	0.20550	0.046;0.024;0.013	B;B;B	0.22601	0.04;0.004;0.028	T	0.72047	-0.4408	10	0.21540	T	0.41	.	18.9751	0.92733	0.0:1.0:0.0:0.0	.	433;433;433	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Q	433	ENSP00000344173:R433Q;ENSP00000409790:R433Q;ENSP00000351142:R433Q;ENSP00000385731:R433Q	ENSP00000344173:R433Q	R	-	2	0	GRM8	126197214	0.157000	0.22836	1.000000	0.80357	0.995000	0.86356	2.604000	0.46274	2.708000	0.92522	0.650000	0.86243	CGA		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
STC1	6781	broad.mit.edu	37	8	23702306	23702306	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:23702306G>A	ENST00000290271.2	-	4	1004	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	STC1_ENST00000524323.1_Missense_Mutation_p.R172C	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	241					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGGGATGTGCGTTTGATGTGG	0.507																																						uc003xdw.1																			0		p.R241H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(721-723)Cgc>Tgc		Homo sapiens stanniocalcin 1 (STC1), mRNA.							111.0	94.0	100.0					8																	23702306		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702306G>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.721C>T	8.37:g.23702306G>A	ENSP00000290271:p.Arg241Cys						p.R241C	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	1005	-		Prostate(55;0.055)|Breast(100;0.116)	241					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.721C>T	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424249	0.43020	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.98	4.12	0.48240	.	0.210191	0.49916	D	0.000127	T	0.29620	0.0739	N	0.19112	0.55	0.49213	D	0.999761	D	0.56968	0.978	B	0.38296	0.27	T	0.20174	-1.0283	9	0.87932	D	0	-0.8003	10.8438	0.46730	0.0:0.1406:0.7132:0.1462	.	241	P52823	STC1_HUMAN	C	241;172;172	.	ENSP00000290271:R241C	R	-	1	0	STC1	23758251	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.034000	0.57289	1.515000	0.48885	-0.188000	0.12872	CGC		0.507	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1		
EBF2	64641	broad.mit.edu	37	8	25718727	25718727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:25718727G>A	ENST00000520164.1	-	13	1717	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	EBF2_ENST00000535548.1_Nonsense_Mutation_p.R125*|EBF2_ENST00000408929.3_Nonsense_Mutation_p.R246*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	394					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGCGGCTCGCTTCAAAATG	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1180-1182)Cga>Tga		Homo sapiens early B-cell factor 2 (EBF2), mRNA.							115.0	121.0	119.0					8																	25718727		1993	4171	6164	SO:0001587	stop_gained	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25718727G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1180C>T	8.37:g.25718727G>A	ENSP00000430241:p.Arg394*					DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	p.R394*	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	12	1445	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	394					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	c.1180C>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	40	8.006618	0.98607	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3669	12.9768	0.58542	0.0:0.0:0.7173:0.2827	.	.	.	.	X	394;246;125	.	ENSP00000386178:R246X	R	-	1	2	EBF2	25774644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.032000	0.49736	2.587000	0.87381	0.655000	0.94253	CGA		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	
LYN	4067	broad.mit.edu	37	8	56866431	56866431	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:56866431T>C	ENST00000519728.1	+	8	974	c.678T>C	c.(676-678)tgT>tgC	p.C226C	LYN_ENST00000520220.2_Silent_p.C205C	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	226	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	AGAAGGCTTGTATTAGTCCCA	0.478																																						uc003xsk.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(676-678)tgT>tgC		Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.							74.0	77.0	76.0					8																	56866431		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866431T>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.678T>C	8.37:g.56866431T>C						LYN_uc003xsl.4_Silent_p.C205C	p.C226C	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		7	960	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	226			SH2.		A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.678T>C	CCDS6162.1																																																																																				0.478	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	
PRDM14	63978	broad.mit.edu	37	8	70980585	70980585	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:70980585T>C	ENST00000276594.2	-	4	993	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	264	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACCAAAATGTGGGACTTCAC	0.488																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.3																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(790-792)ccA>ccG		Homo sapiens PR domain containing 14 (PRDM14), mRNA.							91.0	84.0	86.0					8																	70980585		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70980585T>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.792A>G	8.37:g.70980585T>C							p.P264P	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		3	994	-	Breast(64;0.193)		264			SET.		Q86UX9	Silent	SNP	ENST00000276594.2	37	c.792A>G	CCDS6206.1																																																																																				0.488	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
PABPC1	26986	broad.mit.edu	37	8	101730507	101730507	+	Splice_Site	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:101730507C>T	ENST00000318607.5	-	2	1323	c.195G>A	c.(193-195)gcG>gcA	p.A65A	PABPC1_ENST00000522387.1_Splice_Site_p.A65A|PABPC1_ENST00000519004.1_Splice_Site_p.A20A|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGCACGCTCCGCTGCAGGAA	0.433																																						uc003yjs.1																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.e2-1		Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.							38.0	35.0	36.0					8																	101730507		2203	4300	6503	SO:0001630	splice_region_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101730507C>T	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.194-1G>A	8.37:g.101730507C>T						PABPC1_uc011lhc.1_Splice_Site_p.A65_splice|PABPC1_uc011lhd.1_Splice_Site_p.A20_splice|PABPC1_uc003yjt.1_Splice_Site_p.A65_splice|PABPC1_uc003yju.2_Splice_Site	p.A65_splice	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		2	698	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		65			RRM 1.		Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	c.194_splice	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351171	0.41700	.	.	ENSG00000070756	ENST00000523555	.	.	.	5.37	4.44	0.53790	.	.	.	.	.	T	0.64472	0.2601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	.	13.1071	0.59253	0.2806:0.7194:0.0:0.0	.	.	.	.	R	60	.	.	G	-	1	0	PABPC1	101799683	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.621000	0.46418	2.683000	0.91414	0.650000	0.86243	GGA		0.433	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	Silent
RIMS2	9699	broad.mit.edu	37	8	104778688	104778688	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:104778688T>C	ENST00000406091.3	+	3	621	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	238					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCGATCTCATGGGCTCACAA	0.443										HNSCC(12;0.0054)																												uc003ylp.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(619-621)caT>caC		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.							106.0	102.0	103.0					8																	104778688		1943	4150	6093	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104778688T>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.621T>C	8.37:g.104778688T>C		HNSCC(12;0.0054)					p.H207H	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	760	+			238					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000406091.3	37	c.621T>C	CCDS55269.1																																																																																				0.443	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117	
FREM1	158326	broad.mit.edu	37	9	14775892	14775892	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:14775892C>T	ENST00000380880.3	-	25	5535	c.4752G>A	c.(4750-4752)ggG>ggA	p.G1584G	FREM1_ENST00000380894.1_Silent_p.G120G|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.G1584G|FREM1_ENST00000380881.4_Silent_p.G1585G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1584					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGAGTCCCCTCCTGAGT	0.512																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4750-4752)ggG>ggA		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							144.0	138.0	140.0					9																	14775892		1996	4177	6173	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14775892C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4752G>A	9.37:g.14775892C>T						FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G120G	p.G1584G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5568	-			1584					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4752G>A	CCDS47952.1																																																																																				0.512	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
HAUS6	54801	broad.mit.edu	37	9	19050342	19050342	+	IGR	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:19050342G>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.E229K	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCACCGGTTTGAGAAGATCAG	0.473																																						uc003znj.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(685-687)Gag>Aag		Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.							139.0	121.0	127.0					9																	19050342		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050342G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050342G>A							p.E229K	NM_006570	NP_006561	Q7L523	RRAGA_HUMAN			0	971	+			229	E -> G (in Ref. 2; AAB63255).				B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.685G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742254	0.89573	.	.	ENSG00000155876	ENST00000380527	T	0.72505	-0.66	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91146	0.4949	10	0.87932	D	0	-23.2405	16.0155	0.80434	0.0:0.0:1.0:0.0	.	229	Q7L523	RRAGA_HUMAN	K	229	ENSP00000369899:E229K	ENSP00000369899:E229K	E	+	1	0	RRAGA	19040342	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.188000	0.77739	2.735000	0.93741	0.655000	0.94253	GAG		0.473	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
TAF1L	138474	broad.mit.edu	37	9	32632340	32632340	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:32632340G>A	ENST00000242310.4	-	1	3327	c.3238C>T	c.(3238-3240)Cgt>Tgt	p.R1080C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1080					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1080S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTTGTAACGCTCTTGATGC	0.473																																						uc003zrg.1																			1	Substitution - Missense(1)	p.R1080S(2)|p.R1080H(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3238-3240)Cgt>Tgt		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							179.0	168.0	172.0					9																	32632340		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632340G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3238C>T	9.37:g.32632340G>A	ENSP00000418379:p.Arg1080Cys					AX747113_uc003zrh.1_5'Flank	p.R1080C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	3328	-			1080					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3238C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134261	0.37630	.	.	ENSG00000122728	ENST00000242310	T	0.18657	2.2	0.479	0.479	0.16796	.	0.047970	0.85682	D	0.000000	T	0.13628	0.0330	L	0.55481	1.735	0.80722	D	1	P	0.34780	0.468	B	0.24394	0.053	T	0.08249	-1.0731	10	0.87932	D	0	.	3.4488	0.07490	1.0E-4:1.0E-4:0.5509:0.449	.	1080	Q8IZX4	TAF1L_HUMAN	C	1080	ENSP00000418379:R1080C	ENSP00000418379:R1080C	R	-	1	0	TAF1L	32622340	1.000000	0.71417	0.981000	0.43875	0.701000	0.40568	1.327000	0.33746	0.507000	0.28148	0.195000	0.17529	CGT		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
FGD3	89846	broad.mit.edu	37	9	95738835	95738835	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:95738835C>T	ENST00000375482.3	+	3	793	c.297C>T	c.(295-297)ggC>ggT	p.G99G	FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Silent_p.G99G|FGD3_ENST00000337352.6_Silent_p.G99G	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	99					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGGAGGCTGGCCCAAGCCCCA	0.657																																						uc004asz.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(295-297)ggC>ggT		Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.							20.0	27.0	24.0					9																	95738835		2013	4168	6181	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95738835C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.297C>T	9.37:g.95738835C>T						FGD3_uc004asw.2_Silent_p.G99G|FGD3_uc004asx.2_Silent_p.G99G	p.G99G	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN			2	825	+			99					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.297C>T	CCDS43849.1																																																																																				0.657	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086	
ASTN2	23245	broad.mit.edu	37	9	119488220	119488220	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:119488220T>C	ENST00000313400.4	-	16	2736	c.2636A>G	c.(2635-2637)aAt>aGt	p.N879S	ASTN2_ENST00000361209.2_Missense_Mutation_p.N828S|ASTN2_ENST00000373996.3_Missense_Mutation_p.N875S|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	879					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				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						CTTGAGAACATTAGTGAAGCC	0.542																																						uc004bjt.2																			0				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						c.(2482-2484)aAt>aGt		Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.							107.0	98.0	101.0					9																	119488220		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119488220T>C	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.2636A>G	9.37:g.119488220T>C	ENSP00000314038:p.Asn879Ser					ASTN2_uc022bml.1_Missense_Mutation_p.N524S|ASTN2_uc022bmm.1_Missense_Mutation_p.N528S	p.N828S	NM_014010	NP_054729	O75129	ASTN2_HUMAN			14	2584	-			879					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.2483A>G		.	.	.	.	.	.	.	.	.	.	T	14.29	2.491252	0.44249	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.93	5.93	0.95920	Membrane attack complex component/perforin (MACPF) domain (2);	0.046101	0.85682	D	0.000000	T	0.75398	0.3844	L	0.34521	1.04	0.52501	D	0.999959	P;P;B	0.47106	0.89;0.625;0.383	B;B;B	0.39119	0.291;0.192;0.122	T	0.75578	-0.3269	9	.	.	.	-26.5629	16.3798	0.83452	0.0:0.0:0.0:1.0	.	828;879;875	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	S	879;875;602;828	ENSP00000314038:N879S;ENSP00000363108:N875S;ENSP00000363098:N602S;ENSP00000354504:N828S	.	N	-	2	0	ASTN2	118528041	1.000000	0.71417	0.993000	0.49108	0.336000	0.28762	6.272000	0.72575	2.271000	0.75665	0.533000	0.62120	AAT		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
FCN2	2220	broad.mit.edu	37	9	137777089	137777089	+	Silent	SNP	G	G	A	rs369807019		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:137777089G>A	ENST00000291744.6	+	5	316	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FCN2_ENST00000350339.2_Silent_p.P64P	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	102	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCCCAGGCCCGCGTACCTGCA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16065	0.0		0.0	False		,,,				2504	0.001					uc004cfg.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(304-306)ccG>ccA		Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.							56.0	54.0	55.0					9																	137777089		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777089G>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.306G>A	9.37:g.137777089G>A						FCN2_uc004cfh.1_Silent_p.P64P	p.P102P	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	4	316	+		Myeloproliferative disorder(178;0.0333)	102			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.306G>A	CCDS6983.1																																																																																				0.662	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108	
PIM2	11040	broad.mit.edu	37	X	48771532	48771532	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:48771532G>A	ENST00000376509.4	-	6	1001	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SLC35A2_ENST00000452555.2_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376521.1_5'Flank|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000376529.3_5'Flank|SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000247138.5_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCGGGAAGAAGGTTTGGGGGC	0.602																																						uc004dls.3																			0				lung(3)|stomach(1)	4						c.(811-813)cCt>cTt		Homo sapiens pim-2 oncogene (PIM2), mRNA.							29.0	30.0	30.0					X																	48771532		2201	4298	6499	SO:0001583	missense	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48771532G>A	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.812C>T	X.37:g.48771532G>A	ENSP00000365692:p.Pro271Leu					SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	p.P271L	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN			5	1114	-			271			Protein kinase.		A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.812C>T	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388784	0.82902	.	.	ENSG00000102096	ENST00000376509	T	0.19532	2.14	5.19	5.19	0.71726	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	0.000001	T	0.63745	0.2537	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79478	-0.1787	10	0.87932	D	0	.	16.5231	0.84322	0.0:0.0:1.0:0.0	.	271	Q9P1W9	PIM2_HUMAN	L	271	ENSP00000365692:P271L	ENSP00000365692:P271L	P	-	2	0	PIM2	48656476	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.404000	0.97306	2.158000	0.67659	0.600000	0.82982	CCT		0.602	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		
ATP7A	538	broad.mit.edu	37	X	77243835	77243835	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:77243835C>A	ENST00000341514.6	+	3	373	c.218C>A	c.(217-219)gCt>gAt	p.A73D	ATP7A_ENST00000343533.5_Missense_Mutation_p.A73D|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	73	HMA 1. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GGCTTTGATGCTGTTATCCAT	0.423																																						uc004ecx.4																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(217-219)gCt>gAt		Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.							358.0	306.0	324.0					X																	77243835		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77243835C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.218C>A	X.37:g.77243835C>A	ENSP00000345728:p.Ala73Asp					ATP7A_uc004ecw.2_Missense_Mutation_p.A73D	p.A73D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			2	378	+			73			HMA 1.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.218C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151026	0.78001	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.90261	-2.64;-2.64	5.72	5.72	0.89469	Heavy metal-associated domain, HMA (2);Heavy metal-associated domain, copper ion-binding (1);	0.135338	0.51477	D	0.000098	D	0.97225	0.9093	H	0.98005	4.125	0.80722	D	1	D;D	0.71674	0.993;0.998	D;P	0.65443	0.935;0.893	D	0.98115	1.0422	10	0.54805	T	0.06	-6.1007	18.8983	0.92432	0.0:1.0:0.0:0.0	.	73;83	Q04656;Q59HD1	ATP7A_HUMAN;.	D	73;73;73;83	ENSP00000343026:A73D;ENSP00000345728:A73D	ENSP00000345728:A73D	A	+	2	0	ATP7A	77130491	1.000000	0.71417	0.921000	0.36526	0.983000	0.72400	5.518000	0.67068	2.411000	0.81874	0.600000	0.82982	GCT		0.423	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
STAG2	10735	broad.mit.edu	37	X	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:123220476C>T	ENST00000371160.1	+	30	3423	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.R976*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1045*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1045					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R1045*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCTTACCGAAATTCTTT	0.433																																						uc004eua.3																			1	Substitution - Nonsense(1)	p.R1045*(2)	haematopoietic_and_lymphoid_tissue(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(3133-3135)Cga>Tga		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							190.0	157.0	168.0					X																	123220476		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123220476C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3133C>T	X.37:g.123220476C>T	ENSP00000360202:p.Arg1045*					STAG2_uc004etz.4_Nonsense_Mutation_p.R1045*|STAG2_uc004eub.3_Nonsense_Mutation_p.R1045*|STAG2_uc004euc.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eud.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eue.3_Nonsense_Mutation_p.R1045*	p.R1045*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			29	3537	+			1045					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.3133C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	43	10.078881	0.99332	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	0.396	0.16309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0759	15.262	0.73631	0.6782:0.3218:0.0:0.0	.	.	.	.	X	1045;976;1045;1045;1045;1045	.	ENSP00000218089:R1045X	R	+	1	2	STAG2	123048157	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.174000	0.31932	0.105000	0.17753	-0.364000	0.07487	CGA		0.433	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
L1CAM	3897	broad.mit.edu	37	X	153129351	153129351	+	Silent	SNP	G	G	A	rs201721767		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:153129351G>A	ENST00000370060.1	-	26	3633	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	L1CAM_ENST00000361981.3_Silent_p.G1143G|L1CAM_ENST00000361699.4_Silent_p.G1148G|L1CAM_ENST00000538883.1_Silent_p.G1150G|L1CAM_ENST00000543994.1_Silent_p.G1150G|L1CAM_ENST00000370057.3_Silent_p.G1148G|L1CAM_ENST00000370055.1_Silent_p.G1143G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1148					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTATTTGCCGCCCTTGCTGC	0.627																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3442-3444)ggC>ggT		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							73.0	57.0	62.0					X																	153129351		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129351G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3444C>T	X.37:g.153129351G>A						L1CAM_uc004fjc.3_Silent_p.G1148G|L1CAM_uc010nuo.3_Silent_p.G1143G	p.G1148G	NM_000425	NP_000416	P32004	L1CAM_HUMAN			24	3552	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1148					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3444C>T	CCDS14733.1																																																																																				0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
TSPY10	100289087	broad.mit.edu	37	Y	9366667	9366672	+	In_Frame_Del	DEL	GAAGAT	GAAGAT	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrY:9366667_9366672delGAAGAT	ENST00000428845.2	+	2	572_577	c.526_531delGAAGAT	c.(526-531)gaagatdel	p.ED178del	FAM197Y2_ENST00000598351.1_RNA|TSPY10_ENST00000429039.1_In_Frame_Del_p.ED91del|TSPY10_ENST00000444056.1_In_Frame_Del_p.ED178del|TSPY10_ENST00000489397.1_3'UTR	NM_001282469.1	NP_001269398.1	P0CW01	TSPYA_HUMAN	testis specific protein, Y-linked 10	184					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GATCACTGACGAAGATGAAGACATGC	0.515																																						uc004fse.3																			0											c.(526-531)gaagatdel		Homo sapiens testis specific protein, Y-linked 3 (TSPY3), mRNA.																																				SO:0001651	inframe_deletion	728137				cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	g.chrY:9366667_9366672delGAAGAT		CCDS65365.1	Yp11.2	2010-07-28			ENSG00000236424	ENSG00000236424			37473	protein-coding gene	gene with protein product							Standard	NM_001282469		Approved			P0CW01	OTTHUMG00000041524	ENST00000428845.2:c.526_531delGAAGAT	Y.37:g.9366667_9366672delGAAGAT	ENSP00000406407:p.Glu178_Asp179del					TSPY3_uc004fsf.3_In_Frame_Del_p.ED178del	p.ED178del	NM_001077697	NP_001071165	Q01534	TSPY1_HUMAN			2	809_814	+			178						In_Frame_Del	DEL	ENST00000428845.2	37	c.526_531delGAAGAT																																																																																					0.515	TSPY10-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000099482.1	XM_002344198	
