#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_ACHILLES_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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATAD3B	83858	broad.mit.edu	37	1	1412682	1412682	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:1412682G>T	ENST00000308647.7	+	2	350	c.234G>T	c.(232-234)gcG>gcT	p.A78A	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	78						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGAATCTGGCGCAGATGCAGG	0.622																																							uc001afv.2		NA																	0					0						c.(232-234)GCG>GCT		AAA-ATPase  TOB3							46.0	44.0	45.0					1																	1412682		2203	4295	6498	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1412682G>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.234G>T	1.37:g.1412682G>T						ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank	p.A78A	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	335	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	78			Potential.		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.234G>T	CCDS30.1																																																																																				0.622	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		75	22	1	0	4.59617e-45	0.00361	8.26114e-45	75	22				
SLC35E2B	728661	broad.mit.edu	37	1	1607561	1607561	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:1607561C>A	ENST00000378662.1	-	4	1160	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	SLC35E2B_ENST00000234800.6_Missense_Mutation_p.A134S|RP11-345P4.7_ENST00000596308.1_RNA			P0CK96	S352B_HUMAN	solute carrier family 35, member E2B	134						integral component of membrane (GO:0016021)				kidney(1)|lung(1)	2						GAAAGCCGGGCCTTGTGCTGA	0.527																																							uc001ahf.3		NA																	0					0						c.(400-402)GCC>TCC		similar to solute carrier family 35, member E2							149.0	86.0	107.0					1																	1607561		681	1362	2043	SO:0001583	missense	728661					integral to membrane		g.chr1:1607561C>A		CCDS44041.1	1p36.33	2013-05-22			ENSG00000189339	ENSG00000189339		"""Solute carriers"""	33941	protein-coding gene	gene with protein product							Standard	XM_006710870		Approved		uc001ahg.4	P0CK96	OTTHUMG00000078639	ENST00000378662.1:c.400G>T	1.37:g.1607561C>A	ENSP00000367931:p.Ala134Ser					CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc009vkl.1_Missense_Mutation_p.A134S|SLC35E2B_uc001ahg.3_Missense_Mutation_p.A134S|SLC35E2B_uc001ahh.3_Missense_Mutation_p.A134S|SLC35E2_uc009vkm.1_Intron|SLC35E2B_uc009vkn.1_Missense_Mutation_p.A134S	p.A134S	NM_001110781	NP_001104251	P0CK96	S352B_HUMAN			4	1321	-			134					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8	Missense_Mutation	SNP	ENST00000378662.1	37	c.400G>T	CCDS44041.1	.	.	.	.	.	.	.	.	.	.	c	4.022	0.001580	0.07819	.	.	ENSG00000189339	ENST00000378662;ENST00000234800	D;D	0.93133	-3.17;-3.17	4.46	-6.5	0.01884	Drug/metabolite transporter (1);	0.547535	0.19387	N	0.115513	T	0.71358	0.3330	N	0.01352	-0.895	0.09310	N	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.72074	-0.4400	10	0.08599	T	0.76	-10.3321	7.2888	0.26354	0.0:0.393:0.1822:0.4249	.	134	P0CK96	S352B_HUMAN	S	134	ENSP00000367931:A134S;ENSP00000234800:A134S	ENSP00000234800:A134S	A	-	1	0	SLC35E2B	1597424	0.465000	0.25815	0.014000	0.15608	0.753000	0.42808	0.074000	0.14662	-1.263000	0.02455	0.313000	0.20887	GCC		0.527	SLC35E2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171589.1			53	0	1	0	2.01807e-28	0.00361	3.31883e-28	53	0				
AJAP1	55966	broad.mit.edu	37	1	4829947	4829947	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:4829947C>T	ENST00000378191.4	+	3	1245	c.864C>T	c.(862-864)gtC>gtT	p.V288V	AJAP1_ENST00000378190.3_Silent_p.V288V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	288					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCATCACCGTCTCCCTCATCA	0.557																																							uc001alm.1		NA																	0				lung(1)	1						c.(862-864)GTC>GTT		adherens junction associated protein 1							222.0	204.0	210.0					1																	4829947		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4829947C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.864C>T	1.37:g.4829947C>T						AJAP1_uc001aln.2_Silent_p.V288V	p.V288V	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	3	1245	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	288			Helical; Signal-anchor for type III membrane protein; (Potential).		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.864C>T	CCDS54.1																																																																																				0.557	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		302	109	0	0	0	0.00361	0	302	109				
CHD5	26038	broad.mit.edu	37	1	6181567	6181567	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:6181567G>T	ENST00000262450.3	-	32	4865	c.4766C>A	c.(4765-4767)cCc>cAc	p.P1589H	CHD5_ENST00000378021.1_Missense_Mutation_p.P446H	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GACTTCCAGGGGCTGCCTTGG	0.592																																							uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4765-4767)CCC>CAC		chromodomain helicase DNA binding protein 5							40.0	42.0	41.0					1																	6181567		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181567G>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4766C>A	1.37:g.6181567G>T	ENSP00000262450:p.Pro1589His					CHD5_uc001alz.1_Missense_Mutation_p.P446H|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.P1589H	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	32	4866	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1589					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4766C>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	9.784	1.176003	0.21704	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90563	-2.69;2.25	4.94	4.01	0.46588	.	0.765052	0.11166	U	0.592579	T	0.82162	0.4977	N	0.19112	0.55	0.09310	N	1	P;B	0.47034	0.889;0.214	B;B	0.40741	0.339;0.077	T	0.72940	-0.4139	10	0.42905	T	0.14	-7.5398	7.02	0.24908	0.177:0.0:0.823:0.0	.	1589;446	Q8TDI0;Q5TG85	CHD5_HUMAN;.	H	1589;1105;446;997;997;446	ENSP00000262450:P1589H;ENSP00000367260:P446H	ENSP00000262450:P1589H	P	-	2	0	CHD5	6104154	0.274000	0.24191	0.828000	0.32881	0.004000	0.04260	0.982000	0.29539	2.428000	0.82296	0.453000	0.30009	CCC		0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		7	27	1	0	8.12818e-05	0.001984	8.70909e-05	7	27				
CHD5	26038	broad.mit.edu	37	1	6206398	6206398	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:6206398C>T	ENST00000262450.3	-	11	1775	c.1676G>A	c.(1675-1677)gGg>gAg	p.G559E	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCTTCATCCCCAGAGCCGTA	0.557																																							uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(1675-1677)GGG>GAG		chromodomain helicase DNA binding protein 5							149.0	152.0	151.0					1																	6206398		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206398C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1676G>A	1.37:g.6206398C>T	ENSP00000262450:p.Gly559Glu					CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	p.G559E	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	11	1776	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	559					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1676G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874429	0.51695	.	.	ENSG00000116254	ENST00000262450;ENST00000378006	D	0.90069	-2.61	3.85	3.85	0.44370	.	0.071913	0.56097	D	0.000035	D	0.91754	0.7392	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88636	0.3172	10	0.07990	T	0.79	-18.6648	16.3262	0.82983	0.0:1.0:0.0:0.0	.	559	Q8TDI0	CHD5_HUMAN	E	559;75	ENSP00000262450:G559E	ENSP00000262450:G559E	G	-	2	0	CHD5	6128985	1.000000	0.71417	0.978000	0.43139	0.935000	0.57460	5.842000	0.69417	2.138000	0.66242	0.462000	0.41574	GGG		0.557	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		116	35	0	0	0	0.00361	0	116	35				
DRAXIN	374946	broad.mit.edu	37	1	11769435	11769435	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:11769435G>A	ENST00000294485.5	+	3	690	c.555G>A	c.(553-555)gcG>gcA	p.A185A		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CCAGCCTGGCGCCCACCATGT	0.632																																							uc001asr.1		NA																	0					0						c.(553-555)GCG>GCA		chromosome 1 open reading frame 187 precursor							79.0	65.0	70.0					1																	11769435		2203	4300	6503	SO:0001819	synonymous_variant	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11769435G>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.555G>A	1.37:g.11769435G>A							p.A185A	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	3	695	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	185						Silent	SNP	ENST00000294485.5	37	c.555G>A	CCDS135.1																																																																																				0.632	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		5	29	0	0	0	0.000602	0	5	29				
HNRNPCL1	343069	broad.mit.edu	37	1	12907569	12907569	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:12907569G>T	ENST00000317869.6	-	2	799	c.574C>A	c.(574-576)Cag>Aag	p.Q192K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	192						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCCACTTTCTGTTTTATCTGG	0.433																																							uc009vno.2		NA																	0					0						c.(574-576)CAG>AAG		heterogeneous nuclear ribonucleoprotein C-like							116.0	128.0	124.0					1																	12907569		2166	4273	6439	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907569G>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.574C>A	1.37:g.12907569G>T	ENSP00000365370:p.Gln192Lys					HNRNPCL1_uc010obf.1_Missense_Mutation_p.Q192K	p.Q192K	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	669	-			192					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.574C>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	1.552	-0.538962	0.04053	.	.	ENSG00000179172	ENST00000317869	T	0.09538	2.97	1.09	0.0694	0.14374	.	0.488989	0.17803	U	0.161498	T	0.11879	0.0289	M	0.70275	2.135	0.25486	N	0.987694	B	0.19583	0.037	B	0.17098	0.017	T	0.18023	-1.0350	10	0.44086	T	0.13	.	7.4672	0.27328	0.0:0.2652:0.7348:0.0	.	192	O60812	HNRCL_HUMAN	K	192	ENSP00000365370:Q192K	ENSP00000365370:Q192K	Q	-	1	0	HNRNPCL1	12830156	1.000000	0.71417	0.971000	0.41717	0.242000	0.25591	0.822000	0.27352	0.008000	0.14787	-1.604000	0.00809	CAG		0.433	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		60	398	1	0	7.65386e-43	0.00361	1.36555e-42	60	398				
NBPF1	55672	broad.mit.edu	37	1	16907943	16907943	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:16907943C>A	ENST00000430580.2	-	15	2238	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	451	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACTTTCTCAGCCTCCTCA	0.433																																							uc009vos.1		NA																	0					0						c.(1351-1353)GAG>TAG		hypothetical protein LOC55672							281.0	310.0	299.0					1																	16907943		1495	2695	4190	SO:0001587	stop_gained	55672					cytoplasm		g.chr1:16907943C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1351G>T	1.37:g.16907943C>A	ENSP00000474456:p.Glu451*					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Nonsense_Mutation_p.E180*	p.E451*	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	15	2239	-			451			NBPF 2.		Q8N4E8|Q9C0H0	Nonsense_Mutation	SNP	ENST00000430580.2	37	c.1351G>T																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		51	459	1	0	4.02937e-33	0.00361	6.87196e-33	51	459				
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs11260921	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:17084510G>A	ENST00000455405.2	-	0	379							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577																																							uc010ock.1		NA																	4	Substitution - coding silent(4)		endometrium(2)|kidney(2)		0						c.(1588-1590)CTA>TTA		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17084510G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084510G>A						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Silent_p.L130L	p.L530L	NR_002729						12	1588	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.1588C>T																																																																																					0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		18	199	0	0	0	0.00499	0	18	199				
MST1L	11223	broad.mit.edu	37	1	17085373	17085373	+	RNA	SNP	C	C	T	rs2092130		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:17085373C>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G440R(1)|p.G397R(1)									TGGCTATCCCCATCTGGGTCT	0.602																																							uc010ock.1		NA																	2	Substitution - Missense(2)		kidney(2)		0						c.(1318-1320)GGG>AGG		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17085373C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085373C>T						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.M1I	p.G440R	NR_002729						10	1318	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.1318G>A		.	.	.	.	.	.	.	.	.	.	.	3.164	-0.171433	0.06421	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.699669	0.12362	N	0.475555	T	0.21761	0.0524	.	.	.	.	.	.	B	0.16166	0.016	B	0.17979	0.02	T	0.23940	-1.0174	5	.	.	.	.	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	rs2092130;rs2095110;rs4567270;rs9701105	440	Q2TV78-2	.	R	397;440;440	.	.	G	-	1	0	MST1P9	16957960	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.482000	0.35486	-0.000000	0.14550	0.000000	0.15137	GGG		0.602	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		8	139	0	0	0	0.008871	0	8	139				
PADI6	353238	broad.mit.edu	37	1	17708469	17708469	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:17708469G>A	ENST00000434762.2	+	0	611							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGAAATAACGAATCTGTCCC	0.507																																							uc001bak.1		NA																	0				breast(1)	1						c.(559-561)ACG>ACA		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						87.0	84.0	85.0					1																	17708469		1887	4112	5999			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17708469G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17708469G>A							p.T187T	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	561	+		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)	179					Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37	c.561G>A																																																																																					0.507	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		11	142	0	0	0	0.000978	0	11	142				
PAX7	5081	broad.mit.edu	37	1	19029612	19029612	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:19029612C>G	ENST00000375375.3	+	7	1575	c.977C>G	c.(976-978)cCt>cGt	p.P326R	PAX7_ENST00000420770.2_Missense_Mutation_p.P326R|PAX7_ENST00000400661.3_Missense_Mutation_p.P324R	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	326					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GTGCACCGGCCTCAGCCCCTG	0.667			T	FOXO1A	alveolar rhabdomyosarcoma																																		uc001bay.2		NA		Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(976-978)CCT>CGT		paired box 7 isoform 1							25.0	27.0	26.0					1																	19029612		2201	4299	6500	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19029612C>G	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.977C>G	1.37:g.19029612C>G	ENSP00000364524:p.Pro326Arg					PAX7_uc001baz.2_Missense_Mutation_p.P324R|PAX7_uc010oct.1_Missense_Mutation_p.P326R	p.P326R	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	7	1575	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	326					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.977C>G	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743912	0.89663	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95788	-3.8;-3.8;-3.81	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.964	D	0.97485	1.0050	10	0.66056	D	0.02	.	17.8013	0.88587	0.0:1.0:0.0:0.0	.	326;324;326	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	R	326;326;324	ENSP00000364524:P326R;ENSP00000403389:P326R;ENSP00000383502:P324R	ENSP00000364524:P326R	P	+	2	0	PAX7	18902199	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.295000	0.78780	2.618000	0.88619	0.561000	0.74099	CCT		0.667	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		17	37	0	0	0	0.001882	0	17	37				
CAMK2N1	55450	broad.mit.edu	37	1	20810184	20810184	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:20810184G>T	ENST00000375078.3	-	2	1035	c.195C>A	c.(193-195)gaC>gaA	p.D65E	CAMK2N1_ENST00000489020.1_5'UTR	NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	65	CAMK2 inhibitory domain.					cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	calcium-dependent protein kinase inhibitor activity (GO:0008427)			lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		TTTTCAGCACGTCATCAATCC	0.478																																							uc001bdh.2		NA																	0					0						c.(193-195)GAC>GAA		calcium/calmodulin-dependent protein kinase II							107.0	101.0	103.0					1																	20810184		2203	4300	6503	SO:0001583	missense	55450					cell junction|postsynaptic density|postsynaptic membrane|synaptosome		g.chr1:20810184G>T	AY204901	CCDS207.1	1p36.12	2008-02-05			ENSG00000162545	ENSG00000162545			24190	protein-coding gene	gene with protein product		614986				12477932	Standard	NM_018584		Approved	CaMKIINalpha	uc001bdh.3	Q7Z7J9	OTTHUMG00000002837	ENST00000375078.3:c.195C>A	1.37:g.20810184G>T	ENSP00000364219:p.Asp65Glu					CAMK2N1_uc001bdg.2_RNA	p.D65E	NM_018584	NP_061054	Q7Z7J9	CK2N1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	2	1051	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	65			Inhibitory domain (By similarity).			Missense_Mutation	SNP	ENST00000375078.3	37	c.195C>A	CCDS207.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296942	0.60086	.	.	ENSG00000162545	ENST00000375078	.	.	.	5.56	4.65	0.58169	.	0.091944	0.41097	D	0.000954	T	0.15219	0.0367	.	.	.	0.23356	N	0.997846	B	0.14012	0.009	B	0.10450	0.005	T	0.28650	-1.0037	8	0.06236	T	0.91	-8.8282	7.9168	0.29822	0.086:0.162:0.752:0.0	.	65	Q7Z7J9	CK2N1_HUMAN	E	65	.	ENSP00000364219:D65E	D	-	3	2	CAMK2N1	20682771	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.272000	0.43373	1.337000	0.45525	0.655000	0.94253	GAC		0.478	CAMK2N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007949.1	NM_018584		9	50	1	0	1.58986e-06	0.008291	1.77324e-06	9	50				
KIF17	57576	broad.mit.edu	37	1	21016807	21016807	+	Missense_Mutation	SNP	G	G	C	rs369702366		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:21016807G>C	ENST00000247986.2	-	7	1565	c.1255C>G	c.(1255-1257)Cgg>Ggg	p.R419G	KIF17_ENST00000375044.1_Missense_Mutation_p.R319G|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.R419G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	419					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCTTTCAGCCGGGCCAGGCGC	0.562																																							uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(1255-1257)CGG>GGG		kinesin family member 17 isoform a							26.0	27.0	27.0					1																	21016807		2203	4298	6501	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21016807G>C	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1255C>G	1.37:g.21016807G>C	ENSP00000247986:p.Arg419Gly					KIF17_uc009vpx.2_5'UTR|KIF17_uc001bds.3_Missense_Mutation_p.R419G	p.R419G	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	7	1373	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	419			Potential.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.1255C>G	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	9.113	1.007003	0.19199	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71817	-0.6;-0.47;-0.48	4.67	3.7	0.42460	.	0.604659	0.12488	U	0.464534	T	0.65923	0.2738	L	0.50333	1.59	0.26410	N	0.976271	B;B	0.30634	0.288;0.008	B;B	0.34242	0.178;0.012	T	0.54689	-0.8256	10	0.29301	T	0.29	.	11.5565	0.50750	0.0:0.0:0.7948:0.2052	.	419;419	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	G	319;419;419	ENSP00000364184:R319G;ENSP00000383311:R419G;ENSP00000247986:R419G	ENSP00000247986:R419G	R	-	1	2	KIF17	20889394	1.000000	0.71417	0.998000	0.56505	0.394000	0.30568	2.777000	0.47717	0.917000	0.36895	0.306000	0.20318	CGG		0.562	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		17	47	0	0	0	0.00499	0	17	47				
ECE1	1889	broad.mit.edu	37	1	21586789	21586789	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:21586789T>C	ENST00000374893.6	-	5	664	c.590A>G	c.(589-591)aAa>aGa	p.K197R	ECE1_ENST00000415912.2_Missense_Mutation_p.K181R|ECE1_ENST00000264205.6_Missense_Mutation_p.K194R|ECE1_ENST00000357071.4_Missense_Mutation_p.K185R|ECE1_ENST00000436918.2_Missense_Mutation_p.K197R	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	197					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CATTAGAGGTTTGGCCCTGAG	0.622																																							uc001bek.2		NA																	0				ovary(2)|skin(1)	3						c.(589-591)AAA>AGA		endothelin converting enzyme 1 isoform 1							267.0	237.0	247.0					1																	21586789		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21586789T>C	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.590A>G	1.37:g.21586789T>C	ENSP00000364028:p.Lys197Arg					ECE1_uc001bem.2_Missense_Mutation_p.K181R|ECE1_uc001bej.2_Missense_Mutation_p.K185R|ECE1_uc001bei.2_Missense_Mutation_p.K194R|ECE1_uc010odl.1_Missense_Mutation_p.K197R|ECE1_uc009vqa.1_Missense_Mutation_p.K197R	p.K197R	NM_001397	NP_001388	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	5	665	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	197			Extracellular (Potential).		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.590A>G	CCDS215.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289463	0.59976	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.4	4.25	0.50352	Peptidase M13 (1);	0.047430	0.85682	D	0.000000	T	0.70727	0.3257	L	0.52011	1.625	0.58432	D	0.999997	B;B;B;B;B	0.29341	0.242;0.007;0.002;0.011;0.006	B;B;B;B;B	0.35899	0.213;0.04;0.02;0.023;0.04	T	0.68977	-0.5267	10	0.62326	D	0.03	-27.0752	10.9267	0.47195	0.0:0.0:0.2981:0.7019	.	197;181;197;185;194	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	R	181;185;197;197;194	ENSP00000405088:K181R;ENSP00000349581:K185R;ENSP00000364028:K197R;ENSP00000388439:K197R;ENSP00000264205:K194R	ENSP00000264205:K194R	K	-	2	0	ECE1	21459376	0.999000	0.42202	1.000000	0.80357	0.873000	0.50193	2.181000	0.42547	0.859000	0.35456	0.260000	0.18958	AAA		0.622	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		92	269	0	0	0	0.00361	0	92	269				
EPHA8	2046	broad.mit.edu	37	1	22903330	22903330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:22903330C>A	ENST00000166244.3	+	3	852	c.780C>A	c.(778-780)tgC>tgA	p.C260*	EPHA8_ENST00000538803.1_Nonsense_Mutation_p.C260*|EPHA8_ENST00000374644.4_Nonsense_Mutation_p.C260*	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	260	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGGCAAATGCGTGTGCAGTG	0.682																																							uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(778-780)TGC>TGA		ephrin receptor EphA8 isoform 1 precursor							34.0	34.0	34.0					1																	22903330		2203	4298	6501	SO:0001587	stop_gained	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903330C>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.780C>A	1.37:g.22903330C>A	ENSP00000166244:p.Cys260*					EPHA8_uc001bfw.2_Nonsense_Mutation_p.C260*	p.C260*	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	905	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	260			Extracellular (Potential).|Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Nonsense_Mutation	SNP	ENST00000166244.3	37	c.780C>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650503	0.87958	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	.	.	.	4.09	1.05	0.20165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0665	0.47979	0.0:0.7497:0.0:0.2503	.	.	.	.	X	260	.	ENSP00000166244:C260X	C	+	3	2	EPHA8	22775917	0.683000	0.27633	1.000000	0.80357	0.823000	0.46562	-0.084000	0.11268	0.067000	0.16545	-1.744000	0.00683	TGC		0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		25	14	1	0	2.41591e-17	0.004656	3.39562e-17	25	14				
RHCE	6006	broad.mit.edu	37	1	25701856	25701856	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:25701856C>A	ENST00000349438.4	-	7	1021	c.1003G>T	c.(1003-1005)Gtc>Ttc	p.V335F	RHCE_ENST00000425135.1_Missense_Mutation_p.V289F|RHCE_ENST00000294413.7_Silent_p.T379T|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Silent_p.T228T|RHCE_ENST00000455194.1_Silent_p.T274T|RHCE_ENST00000374352.2_Silent_p.T363T|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000349320.3_Silent_p.T363T|RHCE_ENST00000243186.6_Intron	NM_138618.3	NP_619524	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	0						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGACCAGACGTGAGAGCTA	0.572																																							uc001bkf.2		NA																	0					0						c.(1135-1137)ACG>ACT		Rhesus blood group, CcEe antigens isoform 1							404.0	320.0	349.0					1																	25701856		2202	4299	6501	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25701856C>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000349438.4:c.1003G>T	1.37:g.25701856C>A	ENSP00000334570:p.Val335Phe					RHCE_uc001bkg.2_Missense_Mutation_p.V335F|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Silent_p.T228T|RHCE_uc001bkj.2_Silent_p.T363T	p.T379T	NM_020485	NP_065231	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	8	1223	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	379					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	ENST00000349438.4	37	c.1137G>T	CCDS30637.1	.	.	.	.	.	.	.	.	.	.	c	10.33	1.319895	0.23994	.	.	ENSG00000188672	ENST00000425135;ENST00000447203;ENST00000349438	T;T	0.24908	1.97;1.83	4.87	-9.74	0.00509	.	.	.	.	.	T	0.17195	0.0413	.	.	.	0.09310	N	1	P	0.37781	0.608	B	0.32342	0.144	T	0.34725	-0.9817	8	0.87932	D	0	5.7124	14.6163	0.68552	0.0:0.6417:0.2409:0.1175	.	335	Q5VSJ8	.	F	289;379;335	ENSP00000392809:V289F;ENSP00000334570:V335F	ENSP00000334570:V335F	V	-	1	0	RHCE	25574443	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.151000	0.01289	-2.903000	0.00311	-1.193000	0.01689	GTC		0.572	RHCE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000101973.1	NM_020485		48	176	1	0	2.74695e-27	0.00361	4.46438e-27	48	176				
FAM46B	115572	broad.mit.edu	37	1	27338968	27338968	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:27338968C>T	ENST00000289166.5	-	1	359	c.194G>A	c.(193-195)aGc>aAc	p.S65N		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	65										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AATCGGCTCGCTCAGAAGAGC	0.701																																							uc010ofj.1		NA																	0				central_nervous_system(1)	1						c.(193-195)AGC>AAC		hypothetical protein LOC115572																																				SO:0001583	missense	115572							g.chr1:27338968C>T	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.194G>A	1.37:g.27338968C>T	ENSP00000289166:p.Ser65Asn						p.S65N	NM_052943	NP_443175	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	1	366	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	65						Missense_Mutation	SNP	ENST00000289166.5	37	c.194G>A	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591603	0.28357	.	.	ENSG00000158246	ENST00000289166	T	0.22539	1.95	5.38	0.0561	0.14318	Domain of unknown function DUF1693 (1);	0.571688	0.20569	N	0.089762	T	0.08891	0.0220	N	0.11927	0.2	0.22280	N	0.999234	B	0.20164	0.042	B	0.25759	0.063	T	0.38243	-0.9670	10	0.12103	T	0.63	-19.5563	6.0604	0.19835	0.0:0.5112:0.1229:0.3659	.	65	Q96A09	FA46B_HUMAN	N	65	ENSP00000289166:S65N	ENSP00000289166:S65N	S	-	2	0	FAM46B	27211555	0.000000	0.05858	0.994000	0.49952	0.986000	0.74619	-0.268000	0.08607	0.116000	0.18110	0.655000	0.94253	AGC		0.701	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		16	10	0	0	0	0.003163	0	16	10				
SESN2	83667	broad.mit.edu	37	1	28601354	28601354	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:28601354C>A	ENST00000253063.3	+	8	1360	c.1039C>A	c.(1039-1041)Cat>Aat	p.H347N		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	347					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGAAGACCATGGCTACTC	0.557																																							uc001bps.2		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(1039-1041)CAT>AAT		sestrin 2							101.0	100.0	100.0					1																	28601354		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28601354C>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1039C>A	1.37:g.28601354C>A	ENSP00000253063:p.His347Asn						p.H347N	NM_031459	NP_113647	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	8	1392	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	347					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1039C>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432820	0.83776	.	.	ENSG00000130766	ENST00000253063	T	0.30182	1.54	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.75150	2.29	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.58758	-0.7580	10	0.52906	T	0.07	-11.63	17.83	0.88679	0.0:1.0:0.0:0.0	.	347	P58004	SESN2_HUMAN	N	347	ENSP00000253063:H347N	ENSP00000253063:H347N	H	+	1	0	SESN2	28473941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.416000	0.80143	2.488000	0.83962	0.655000	0.94253	CAT		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			29	80	1	0	2.70662e-09	0.009535	3.23523e-09	29	80				
A3GALT2	127550	broad.mit.edu	37	1	33772993	33772993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:33772993G>A	ENST00000442999.3	-	5	396	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000457957.2_RNA|A3GALT2_ENST00000330379.5_Nonsense_Mutation_p.Q78*	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				ATCACGCTCTGGCCCGCCATG	0.697																																							uc001bxd.1		NA																	0					NA						c.(397-399)CAG>TAG		RecName: Full=Alpha 1,3-galactosyltransferase 2;          Short=A3galt2;          EC=2.4.1.87; AltName: Full=Isoglobotriaosylceramide synthase; AltName: Full=iGb3 synthase;          Short=iGb3S; Flags: Precursor;							38.0	39.0	38.0					1																	33772993		2011	4138	6149	SO:0001587	stop_gained	0							g.chr1:33772993G>A		CCDS60080.1	1p35.1	2013-09-05	2013-03-11	2013-03-11	ENSG00000184389	ENSG00000184389		"""Glycosyltransferase family 6 domain containing"""	30005	protein-coding gene	gene with protein product	"""iGb3 synthase"", ""isoglobotriaosylceramide synthase"""		"""alpha 1,3-galactosyltransferase 2, pseudogene"""	A3GALT2P		10854427, 18630988	Standard	NM_001080438		Approved	IGBS3S	uc031plq.1		OTTHUMG00000004125	ENST00000442999.3:c.397C>T	1.37:g.33772993G>A	ENSP00000475261:p.Gln133*						p.Q133*	NM_001080438	NP_001073907					5	397	-									Nonsense_Mutation	SNP	ENST00000442999.3	37	c.397C>T																																																																																					0.697	A3GALT2-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000011861.3	NM_001080438		25	75	0	0	0	0.007291	0	25	75				
CSMD2	114784	broad.mit.edu	37	1	34083116	34083116	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:34083116G>C	ENST00000373380.1	-	17	2768	c.2548C>G	c.(2548-2550)Ccg>Gcg	p.P850A	CSMD2_ENST00000373381.4_Missense_Mutation_p.P1977A|CSMD2_ENST00000373377.1_Missense_Mutation_p.P76A|CSMD2_ENST00000373388.2_Missense_Mutation_p.P76A			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1937	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCATATCCCGGCTCACACTGG	0.587																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(5809-5811)CCG>GCG		CUB and Sushi multiple domains 2							111.0	84.0	93.0					1																	34083116		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34083116G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2548C>G	1.37:g.34083116G>C	ENSP00000362478:p.Pro850Ala					CSMD2_uc001bxm.1_Missense_Mutation_p.P1977A|CSMD2_uc001bxo.1_Missense_Mutation_p.P850A	p.P1937A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			38	5838	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1937			Sushi 11.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5809C>G		.	.	.	.	.	.	.	.	.	.	G	27.1	4.800195	0.90538	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	L	0.57130	1.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76471	-0.2947	10	0.51188	T	0.08	.	18.3393	0.90299	0.0:0.0:1.0:0.0	.	850;1937;1977	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	A	1977;850;76;76	ENSP00000362479:P1977A;ENSP00000362478:P850A;ENSP00000362475:P76A;ENSP00000362486:P76A	ENSP00000241312:P1937A	P	-	1	0	CSMD2	33855703	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.960000	0.87893	2.676000	0.91093	0.655000	0.94253	CCG		0.587	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		25	14	0	0	0	0.00333	0	25	14				
CSMD2	114784	broad.mit.edu	37	1	34174850	34174850	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:34174850C>A	ENST00000373380.1	-	1	254	c.34G>T	c.(34-36)Ggg>Tgg	p.G12W	CSMD2_ENST00000373381.4_Missense_Mutation_p.G1139W|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1099						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGAATTCCCACACTCAGCT	0.463																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(3295-3297)GGG>TGG		CUB and Sushi multiple domains 2							72.0	66.0	68.0					1																	34174850		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34174850C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.34G>T	1.37:g.34174850C>A	ENSP00000362478:p.Gly12Trp					CSMD2_uc001bxm.1_Missense_Mutation_p.G1139W|CSMD2_uc001bxo.1_Missense_Mutation_p.G12W	p.G1099W	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			22	3324	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1099			Extracellular (Potential).|CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3295G>T		.	.	.	.	.	.	.	.	.	.	C	21.3	4.133588	0.77662	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.39787	1.06;1.06	5.6	4.67	0.58626	CUB (5);	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	H	0.98965	4.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87180	0.2227	10	0.54805	T	0.06	.	15.4806	0.75524	0.0:0.861:0.139:0.0	.	12;1099;1139	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	1139;12	ENSP00000362479:G1139W;ENSP00000362478:G12W	ENSP00000241312:G1099W	G	-	1	0	CSMD2	33947437	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	1.346000	0.45694	0.561000	0.74099	GGG		0.463	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		10	28	1	0	0.000442599	0.006214	0.000466224	10	28				
STK40	83931	broad.mit.edu	37	1	36809008	36809008	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:36809008G>C	ENST00000373129.3	-	11	1452	c.1046C>G	c.(1045-1047)cCt>cGt	p.P349R	STK40_ENST00000359297.2_Missense_Mutation_p.P349R|STK40_ENST00000373132.3_Missense_Mutation_p.P349R|STK40_ENST00000373130.3_Missense_Mutation_p.P354R	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	349					glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ATCAATGTCAGGAACCACTTG	0.592																																							uc001cak.1		NA																	0				ovary(1)	1						c.(1045-1047)CCT>CGT		serine/threonine kinase 40							81.0	69.0	73.0					1																	36809008		2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36809008G>C	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.1046C>G	1.37:g.36809008G>C	ENSP00000362221:p.Pro349Arg					STK40_uc001cal.1_Missense_Mutation_p.P354R|STK40_uc001cam.1_Missense_Mutation_p.P349R|STK40_uc009vva.1_Intron|STK40_uc001can.1_Missense_Mutation_p.P349R	p.P349R	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN			11	1453	-		Myeloproliferative disorder(586;0.0393)	349					D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.1046C>G	CCDS407.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457881	0.84317	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.68479	-0.33;1.98;1.98;-0.33	5.05	5.05	0.67936	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75064	0.3799	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.77925	-0.2405	10	0.72032	D	0.01	-11.4317	17.783	0.88529	0.0:0.0:1.0:0.0	.	349;354;349	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	R	349;349;354;349	ENSP00000362221:P349R;ENSP00000352245:P349R;ENSP00000362222:P354R;ENSP00000362224:P349R	ENSP00000352245:P349R	P	-	2	0	STK40	36581595	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	8.766000	0.91728	2.503000	0.84419	0.655000	0.94253	CCT		0.592	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		20	8	0	0	0	0.001882	0	20	8				
KIAA0754	643314	broad.mit.edu	37	1	39876984	39876984	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:39876984G>A	ENST00000530275.1	+	1	834	c.639G>A	c.(637-639)ctG>ctA	p.L213L	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	213										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGACTTTTCTGATGGCAGATG	0.468											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc009vvt.1		NA																	0					0						c.(1045-1047)CTG>CTA		hypothetical protein LOC643314							102.0	104.0	103.0					1																	39876984		1954	4156	6110	SO:0001819	synonymous_variant	643314							g.chr1:39876984G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.639G>A	1.37:g.39876984G>A			OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.L349L	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1809	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	213					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.1047G>A																																																																																					0.468	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		24	87	0	0	0	0.002299	0	24	87				
TIE1	7075	broad.mit.edu	37	1	43783064	43783065	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:43783064_43783065CA>AT	ENST00000372476.3	+	15	2683_2684	c.2604_2605CA>AT	c.(2602-2607)gcCAtc>gcATtc	p.I869F	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.I514F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	869	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A868A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAACGCAGCCATCAAAATGCT	0.589																																							uc001ciu.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(2602-2607)GCCATC>GCATTC		tyrosine kinase with immunoglobulin-like and																																				SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783064_43783065CA>AT	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	Exception_encountered	1.37:g.43783064_43783065delinsAT	ENSP00000361554:p.Ile869Phe					TIE1_uc010oke.1_Missense_Mutation_p.I824F|TIE1_uc009vwq.2_Missense_Mutation_p.I825F|TIE1_uc010okg.1_Missense_Mutation_p.I514F	p.I869F	NM_005424	NP_005415	P35590	TIE1_HUMAN			15	2683_2684	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	869			Cytoplasmic (Potential).|Protein kinase.		B5A949|B5A950	Missense_Mutation	DNP	ENST00000372476.3	37	c.2604_2605CA>AT	CCDS482.1																																																																																				0.589	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		47	34	0	0	0	0.004672	0	47	34				
CYP4B1	1580	broad.mit.edu	37	1	47279205	47279205	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:47279205G>A	ENST00000271153.4	+	5	583	c.547G>A	c.(547-549)Gat>Aat	p.D183N	CYP4B1_ENST00000371923.4_Missense_Mutation_p.D183N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.D20N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D168N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	183					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CATCTTCTGCGATGTGGGTCA	0.582																																							uc001cqm.3		NA																	0				ovary(1)|skin(1)	2						c.(547-549)GAT>AAT		cytochrome P450, family 4, subfamily B,							119.0	113.0	115.0					1																	47279205		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279205G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.547G>A	1.37:g.47279205G>A	ENSP00000271153:p.Asp183Asn					CYP4B1_uc009vyl.1_Missense_Mutation_p.D20N|CYP4B1_uc001cqn.3_Missense_Mutation_p.D183N|CYP4B1_uc009vym.2_Missense_Mutation_p.D168N|CYP4B1_uc010omk.1_Missense_Mutation_p.D20N|CYP4B1_uc010oml.1_Missense_Mutation_p.D20N	p.D183N	NM_000779	NP_000770	P13584	CP4B1_HUMAN			5	631	+	Acute lymphoblastic leukemia(166;0.155)		183					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.547G>A	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520697	0.44866	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.98	4.98	0.66077	.	0.104805	0.64402	D	0.000005	T	0.73249	0.3563	L	0.46819	1.47	0.34396	D	0.694727	D;D;P;D	0.65815	0.99;0.995;0.946;0.957	P;P;P;P	0.61658	0.605;0.892;0.665;0.774	T	0.80518	-0.1347	10	0.49607	T	0.09	.	13.4606	0.61225	0.0:0.2897:0.7103:0.0	.	20;168;183;183	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	N	183;183;168;20;20;20	ENSP00000360991:D183N;ENSP00000271153:D183N;ENSP00000360987:D168N;ENSP00000438995:D20N;ENSP00000400413:D20N;ENSP00000437670:D20N	ENSP00000271153:D183N	D	+	1	0	CYP4B1	47051792	0.997000	0.39634	0.937000	0.37676	0.094000	0.18550	2.956000	0.49129	2.326000	0.78906	0.591000	0.81541	GAT		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		13	48	0	0	0	0.001855	0	13	48				
FOXD2	2306	broad.mit.edu	37	1	47904182	47904182	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:47904182G>T	ENST00000334793.5	+	1	2494	c.375G>T	c.(373-375)ctG>ctT	p.L125L		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	125					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GGAGCCCGCTGGTGAAGCCGC	0.756																																							uc001crm.2		NA																	0					0						c.(373-375)CTG>CTT		forkhead box D2							27.0	30.0	29.0					1																	47904182		2203	4300	6503	SO:0001819	synonymous_variant	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904182G>T	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.375G>T	1.37:g.47904182G>T							p.L125L	NM_004474	NP_004465	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2494	+			125					Q5SVZ3	Silent	SNP	ENST00000334793.5	37	c.375G>T	CCDS30708.1																																																																																				0.756	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		16	33	1	0	1.15088e-07	0.004007	1.32252e-07	16	33				
DAB1	1600	broad.mit.edu	37	1	57538066	57538066	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:57538066C>A	ENST00000371231.1	-	4	362	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	DAB1_ENST00000371234.4_Missense_Mutation_p.V110F|DAB1_ENST00000371230.1_Missense_Mutation_p.V110F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.V110F|DAB1_ENST00000371236.2_Missense_Mutation_p.V110F|DAB1_ENST00000420954.2_Missense_Mutation_p.V110F|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	110	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATTTCATGAACAGCATGATGA	0.408																																							uc001cys.1		NA																	0				skin(2)|ovary(1)	3						c.(328-330)GTT>TTT		disabled homolog 1							117.0	112.0	114.0					1																	57538066		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57538066C>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.328G>T	1.37:g.57538066C>A	ENSP00000360275:p.Val110Phe					DAB1_uc001cyt.1_Missense_Mutation_p.V110F|DAB1_uc001cyq.1_Missense_Mutation_p.V110F|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.V110F|DAB1_uc009vzx.1_Missense_Mutation_p.V110F	p.V110F	NM_021080	NP_066566	O75553	DAB1_HUMAN			7	1002	-			110			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.328G>T		.	.	.	.	.	.	.	.	.	.	C	24.6	4.545479	0.86022	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000371231;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.84	5.84	0.93424	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.99;0.995	D;D;D;D	0.97110	1.0;0.984;0.972;0.98	T	0.55592	-0.8117	10	0.87932	D	0	-24.8841	20.1466	0.98079	0.0:1.0:0.0:0.0	.	110;110;110;110	O75553-4;O75553;O75553-6;O75553-5	.;DAB1_HUMAN;.;.	F	110	ENSP00000360280:V110F;ENSP00000360278:V110F;ENSP00000395296:V110F;ENSP00000387581:V110F;ENSP00000360275:V110F;ENSP00000329120:V110F;ENSP00000360274:V110F	ENSP00000329120:V110F	V	-	1	0	DAB1	57310654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.779000	0.95612	0.591000	0.81541	GTT		0.408	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		43	29	1	0	6.1244e-12	0.007835	7.73651e-12	43	29				
KANK4	163782	broad.mit.edu	37	1	62739543	62739543	+	Missense_Mutation	SNP	G	G	T	rs143096938		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:62739543G>T	ENST00000371153.4	-	3	1611	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	411						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCACCATCACGTCCGTCTGGC	0.517																																							uc001dah.3		NA																	0				ovary(3)|skin(2)|lung(1)	6						c.(1231-1233)GAC>GAA		ankyrin repeat domain 38							199.0	168.0	179.0					1																	62739543		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739543G>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1233C>A	1.37:g.62739543G>T	ENSP00000360195:p.Asp411Glu					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.D411E	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1610	-			411					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1233C>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166096	0.57476	.	.	ENSG00000132854	ENST00000371153	T	0.61510	0.1	5.67	-10.3	0.00346	.	0.000000	0.41097	D	0.000950	T	0.42720	0.1215	M	0.66939	2.045	0.30094	N	0.808041	B	0.33345	0.409	B	0.28638	0.092	T	0.20940	-1.0260	10	0.23891	T	0.37	-16.8446	14.1997	0.65693	0.7148:0.0764:0.2088:0.0	.	411	Q5T7N3	KANK4_HUMAN	E	411	ENSP00000360195:D411E	ENSP00000360195:D411E	D	-	3	2	KANK4	62512131	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-1.623000	0.02040	-2.096000	0.00852	-1.051000	0.02340	GAC		0.517	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		108	82	1	0	2.21257e-79	0.00361	4.16255e-79	108	82				
JAK1	3716	broad.mit.edu	37	1	65325846	65325846	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:65325846C>A	ENST00000342505.4	-	9	1524	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	426					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGGGCCACGTCGGTGCAGAGG	0.542			Mis		ALL																																		uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(1276-1278)GAC>TAC		janus kinase 1							102.0	106.0	105.0					1																	65325846		2025	4181	6206	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325846C>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1276G>T	1.37:g.65325846C>A	ENSP00000343204:p.Asp426Tyr					JAK1_uc009wam.1_Missense_Mutation_p.D414Y	p.D426Y	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1525	-			426					Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.1276G>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672281	0.88348	.	.	ENSG00000162434	ENST00000342505	T	0.55052	0.54	5.49	5.49	0.81192	.	.	.	.	.	T	0.66247	0.2770	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.67476	-0.5661	9	0.72032	D	0.01	-6.2531	19.7631	0.96332	0.0:1.0:0.0:0.0	.	426	P23458	JAK1_HUMAN	Y	426	ENSP00000343204:D426Y	ENSP00000343204:D426Y	D	-	1	0	JAK1	65098434	1.000000	0.71417	0.330000	0.25442	0.852000	0.48524	7.440000	0.80464	2.767000	0.95098	0.655000	0.94253	GAC		0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		13	52	1	0	7.93312e-07	0.00245	8.90979e-07	13	52				
WDR78	79819	broad.mit.edu	37	1	67288201	67288201	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:67288201C>G	ENST00000371026.3	-	16	2395		c.e16-1		WDR78_ENST00000431318.1_Splice_Site	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGGTCCAAACTGTAATGAAA	0.294																																							uc001dcx.2		NA																	0				ovary(2)	2						c.e16-1		WD repeat domain 78 isoform 1																																				SO:0001630	splice_region_variant	79819							g.chr1:67288201C>G	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2340-1G>C	1.37:g.67288201C>G						WDR78_uc009waw.2_Splice_Site_p.T493_splice|WDR78_uc009wax.2_Splice_Site	p.T780_splice	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			16	2396	-								A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Splice_Site	SNP	ENST00000371026.3	37	c.2340_splice	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149281	0.78001	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0352	0.92974	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR78	67060789	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.733000	0.74796	2.667000	0.90743	0.555000	0.69702	.		0.294	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	Intron	6	21	0	0	0	0.001168	0	6	21				
NEGR1	257194	broad.mit.edu	37	1	72748003	72748003	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:72748003T>A	ENST00000357731.5	-	1	414	c.175A>T	c.(175-177)Agg>Tgg	p.R59W	NEGR1_ENST00000434200.1_Splice_Site_p.R57W	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	59	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCTTCCTACCTAAGCACCGCC	0.532																																							uc001dfw.2		NA																	0				ovary(1)	1						c.(175-177)AGG>TGG		neuronal growth regulator 1 precursor							84.0	88.0	87.0					1																	72748003		2203	4300	6503	SO:0001630	splice_region_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72748003T>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.176+1A>T	1.37:g.72748003T>A						NEGR1_uc010oqs.1_Missense_Mutation_p.R59W	p.R59W	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	275	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	59			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.175A>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944030	0.73672	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.68025	-0.3;-0.3	5.25	5.25	0.73442	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.096265	0.64402	D	0.000001	T	0.70850	0.3271	M	0.87180	2.865	0.80722	D	1	B;B	0.31383	0.321;0.024	B;B	0.43728	0.429;0.254	T	0.76702	-0.2862	10	0.72032	D	0.01	-2.2995	13.1	0.59214	0.0:0.0:0.0:1.0	.	57;59	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	W	59;57	ENSP00000350364:R59W;ENSP00000413294:R57W	ENSP00000350364:R59W	R	-	1	2	NEGR1	72520591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.793000	0.75130	1.988000	0.58038	0.459000	0.35465	AGG		0.532	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808	Missense_Mutation	29	19	0	0	0	0.007291	0	29	19				
ERICH3	127254	broad.mit.edu	37	1	75055736	75055736	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:75055736G>A	ENST00000326665.5	-	12	1973	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	C1orf173_ENST00000420661.2_Silent_p.S388S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		585	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						GGTGACTTCTGGATGAGGTTG	0.393																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1753-1755)TCC>TCT		hypothetical protein LOC127254							41.0	37.0	38.0					1																	75055736		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75055736G>A																												ENST00000326665.5:c.1755C>T	1.37:g.75055736G>A						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.S379S	p.S585S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	1974	-			585			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.1755C>T	CCDS30755.1																																																																																				0.393	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			14	21	0	0	0	0.001855	0	14	21				
ERICH3	127254	broad.mit.edu	37	1	75114965	75114965	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:75114965G>T	ENST00000326665.5	-	2	276	c.58C>A	c.(58-60)Cac>Aac	p.H20N		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		20										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						CCAGCCAGGTGTTTATCCATA	0.348																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(58-60)CAC>AAC		hypothetical protein LOC127254							106.0	105.0	105.0					1																	75114965		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75114965G>T																												ENST00000326665.5:c.58C>A	1.37:g.75114965G>T	ENSP00000322609:p.His20Asn						p.H20N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			2	277	-			20					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.58C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971595	0.74246	.	.	ENSG00000178965	ENST00000326665	T	0.14266	2.52	5.57	5.57	0.84162	.	.	.	.	.	T	0.21145	0.0509	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00847	-1.1542	9	0.35671	T	0.21	-12.8616	18.3037	0.90172	0.0:0.0:1.0:0.0	.	20	Q5RHP9	CA173_HUMAN	N	20	ENSP00000322609:H20N	ENSP00000322609:H20N	H	-	1	0	C1orf173	74887553	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.521000	0.90569	2.622000	0.88805	0.591000	0.81541	CAC		0.348	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			47	43	1	0	6.3008e-33	0.00361	1.07269e-32	47	43				
ACADM	34	broad.mit.edu	37	1	76199314	76199314	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76199314G>T	ENST00000370841.4	+	5	824		c.e5+1		ACADM_ENST00000370834.5_Splice_Site|ACADM_ENST00000541113.1_Splice_Site|ACADM_ENST00000420607.2_Splice_Site|ACADM_ENST00000543667.1_Intron	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain						cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TTCTTTGGGGGTAAGTGACTT	0.358																																							uc001dgw.3		NA																	0				breast(2)|ovary(1)|skin(1)	4	GRCh37	CD052077|CS012486	ACADM	D|S		c.e5+1		medium-chain acyl-CoA dehydrogenase isoform a							153.0	156.0	155.0					1																	76199314		2203	4300	6503	SO:0001630	splice_region_variant	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76199314G>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.387+1G>T	1.37:g.76199314G>T						ACADM_uc010orc.1_Intron|ACADM_uc010ord.1_Splice_Site_p.G43_splice|ACADM_uc009wbp.2_Splice_Site_p.G133_splice|ACADM_uc009wbr.2_Splice_Site_p.G162_splice|ACADM_uc010ore.1_Splice_Site_p.G93_splice|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_Splice_Site_p.G43_splice|ACADM_uc010org.1_Intron	p.G129_splice	NM_000016	NP_000007	P11310	ACADM_HUMAN			5	817	+								Q5T4U4|Q9NYF1	Splice_Site	SNP	ENST00000370841.4	37	c.387_splice	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995194	0.74703	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8979	0.92430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACADM	75971902	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.396000	0.97270	2.567000	0.86603	0.591000	0.81541	.		0.358	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		Intron	12	41	1	0	0.00010058	0.001368	0.000107352	12	41				
ACADM	34	broad.mit.edu	37	1	76211578	76211578	+	Silent	SNP	A	A	T	rs368276871		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76211578A>T	ENST00000370841.4	+	8	1124	c.687A>T	c.(685-687)ccA>ccT	p.P229P	ACADM_ENST00000370834.5_Silent_p.P262P|ACADM_ENST00000541113.1_Silent_p.P193P|ACADM_ENST00000420607.2_Silent_p.P233P|ACADM_ENST00000543667.1_Silent_p.P40P	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	229					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	CAGATACCCCAGGAATTCAGA	0.328																																							uc001dgw.3		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(685-687)CCA>CCT		medium-chain acyl-CoA dehydrogenase isoform a							73.0	77.0	75.0					1																	76211578		2203	4300	6503	SO:0001819	synonymous_variant	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76211578A>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.687A>T	1.37:g.76211578A>T						ACADM_uc010ord.1_Silent_p.P143P|ACADM_uc009wbp.2_Silent_p.P233P|ACADM_uc009wbr.2_Silent_p.P262P|ACADM_uc010ore.1_Silent_p.P193P|ACADM_uc010orf.1_Silent_p.P40P|ACADM_uc001dgx.3_Silent_p.P143P|ACADM_uc010org.1_Silent_p.P99P|ACADM_uc009wbs.1_RNA	p.P229P	NM_000016	NP_000007	P11310	ACADM_HUMAN			8	1117	+			229					Q5T4U4|Q9NYF1	Silent	SNP	ENST00000370841.4	37	c.687A>T	CCDS668.1																																																																																				0.328	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			50	31	0	0	0	0.00361	0	50	31				
MSH4	4438	broad.mit.edu	37	1	76345744	76345744	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76345744G>C	ENST00000263187.3	+	13	1791	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	563					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GATTTCTAAAGTGAAAAATTC	0.279								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(1687-1689)GTG>CTG	MMR	mutS homolog 4							53.0	52.0	53.0					1																	76345744		2193	4264	6457	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76345744G>C	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1687G>C	1.37:g.76345744G>C	ENSP00000263187:p.Val563Leu						p.V563L	NM_002440	NP_002431	O15457	MSH4_HUMAN			13	1728	+			563					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1687G>C	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612884	0.28712	.	.	ENSG00000057468	ENST00000263187	D	0.87650	-2.28	5.51	0.938	0.19500	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.695584	0.14821	N	0.296434	T	0.56688	0.2002	L	0.36672	1.1	0.30764	N	0.743801	B	0.17465	0.022	B	0.20384	0.029	T	0.37009	-0.9724	10	0.02654	T	1	-2.4101	7.2432	0.26107	0.6943:0.0:0.3057:0.0	.	563	O15457	MSH4_HUMAN	L	563	ENSP00000263187:V563L	ENSP00000263187:V563L	V	+	1	0	MSH4	76118332	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.854000	0.27791	0.264000	0.21851	0.650000	0.86243	GTG		0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		14	9	0	0	0	0.001855	0	14	9				
MSH4	4438	broad.mit.edu	37	1	76345766	76345766	+	Missense_Mutation	SNP	C	C	G	rs367943707		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76345766C>G	ENST00000263187.3	+	13	1813	c.1709C>G	c.(1708-1710)aCa>aGa	p.T570R		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	570					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TACAGCTTTACATCAGCAGAT	0.269								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(1708-1710)ACA>AGA	MMR	mutS homolog 4							54.0	54.0	54.0					1																	76345766		2194	4260	6454	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76345766C>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1709C>G	1.37:g.76345766C>G	ENSP00000263187:p.Thr570Arg						p.T570R	NM_002440	NP_002431	O15457	MSH4_HUMAN			13	1750	+			570					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1709C>G	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439683	0.83885	.	.	ENSG00000057468	ENST00000263187	D	0.91124	-2.79	5.51	5.51	0.81932	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.79475	2.455	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.95036	0.8174	10	0.72032	D	0.01	-20.7695	19.415	0.94690	0.0:1.0:0.0:0.0	.	570	O15457	MSH4_HUMAN	R	570	ENSP00000263187:T570R	ENSP00000263187:T570R	T	+	2	0	MSH4	76118354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.259000	0.78381	2.600000	0.87896	0.650000	0.86243	ACA		0.269	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		5	20	0	0	0	0.001168	0	5	20				
MSH4	4438	broad.mit.edu	37	1	76347015	76347015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76347015G>T	ENST00000263187.3	+	14	1970	c.1866G>T	c.(1864-1866)atG>atT	p.M622I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	622					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGCTGGATATGCTACTGTCAT	0.348								Mismatch excision repair (MMR)																															uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(1864-1866)ATG>ATT	MMR	mutS homolog 4							211.0	194.0	199.0					1																	76347015		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76347015G>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1866G>T	1.37:g.76347015G>T	ENSP00000263187:p.Met622Ile						p.M622I	NM_002440	NP_002431	O15457	MSH4_HUMAN			14	1907	+			622					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1866G>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754532	0.89843	.	.	ENSG00000057468	ENST00000263187	D	0.90133	-2.62	5.59	5.59	0.84812	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	M	0.87617	2.895	0.58432	D	0.999996	P	0.43352	0.804	P	0.49887	0.625	D	0.93806	0.7105	10	0.56958	D	0.05	-25.7384	19.5992	0.95552	0.0:0.0:1.0:0.0	.	622	O15457	MSH4_HUMAN	I	622	ENSP00000263187:M622I	ENSP00000263187:M622I	M	+	3	0	MSH4	76119603	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.323000	0.96364	2.642000	0.89623	0.650000	0.86243	ATG		0.348	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		26	29	1	0	1.74197e-06	0.00632	1.94177e-06	26	29				
ASB17	127247	broad.mit.edu	37	1	76384776	76384776	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:76384776T>C	ENST00000284142.6	-	3	888	c.749A>G	c.(748-750)tAc>tGc	p.Y250C		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	250	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGGATCTTTGTATCTTGTTGA	0.313																																							uc001dhe.1		NA																	0				ovary(1)	1						c.(748-750)TAC>TGC		ankyrin repeat and SOCS box-containing 17							133.0	131.0	132.0					1																	76384776		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76384776T>C	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.749A>G	1.37:g.76384776T>C	ENSP00000284142:p.Tyr250Cys					ASB17_uc001dhf.1_RNA	p.Y250C	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			3	889	-			250			SOCS box.		B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.749A>G	CCDS671.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.316739	0.60524	.	.	ENSG00000154007	ENST00000284142	T	0.30714	1.52	4.22	4.22	0.49857	SOCS protein, C-terminal (1);	0.000000	0.45126	D	0.000392	T	0.32255	0.0823	L	0.40543	1.245	0.36867	D	0.888728	D	0.76494	0.999	D	0.77557	0.99	T	0.22871	-1.0204	10	0.87932	D	0	.	9.9647	0.41717	0.0:0.0:0.0:1.0	.	250	Q8WXJ9	ASB17_HUMAN	C	250	ENSP00000284142:Y250C	ENSP00000284142:Y250C	Y	-	2	0	ASB17	76157364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.915000	0.56409	1.677000	0.50941	0.455000	0.32223	TAC		0.313	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		7	27	0	0	0	0.001984	0	7	27				
ST6GALNAC5	81849	broad.mit.edu	37	1	77509947	77509947	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:77509947A>T	ENST00000477717.1	+	3	555	c.320A>T	c.(319-321)cAc>cTc	p.H107L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	107					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CATCTGCTGCACAGTCGGCAA	0.622																																							uc001dhi.2		NA																	0				pancreas(1)|skin(1)	2						c.(319-321)CAC>CTC		sialyltransferase 7E							54.0	47.0	49.0					1																	77509947		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77509947A>T		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.320A>T	1.37:g.77509947A>T	ENSP00000417583:p.His107Leu					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.H107L	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	495	+			107			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.320A>T	CCDS673.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877218	0.51801	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.29142	1.58	5.72	2.85	0.33270	.	0.239020	0.49916	D	0.000140	T	0.07548	0.0190	N	0.17082	0.46	0.30000	N	0.816134	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	10	0.59425	D	0.04	-12.9595	10.5621	0.45152	0.2118:0.0:0.7882:0.0	.	107	Q9BVH7	SIA7E_HUMAN	L	107;17	ENSP00000417583:H107L	ENSP00000436263:H107L	H	+	2	0	ST6GALNAC5	77282535	0.999000	0.42202	0.997000	0.53966	0.806000	0.45545	2.682000	0.46934	0.340000	0.23745	-0.242000	0.12053	CAC		0.622	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		16	50	0	0	0	0.003163	0	16	50				
IFI44L	10964	broad.mit.edu	37	1	79107475	79107475	+	Missense_Mutation	SNP	C	C	G	rs201287365		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:79107475C>G	ENST00000370751.5	+	9	1519	c.1340C>G	c.(1339-1341)gCg>gGg	p.A447G	IFI44L_ENST00000342282.3_Missense_Mutation_p.A189G|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	447					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATTGAGAGAGCGTTACAGCCC	0.468																																							uc010oro.1		NA																	0					0						c.(1339-1341)GCG>GGG		interferon-induced protein 44-like							306.0	283.0	291.0					1																	79107475		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79107475C>G	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1340C>G	1.37:g.79107475C>G	ENSP00000359787:p.Ala447Gly					IFI44L_uc010orp.1_Missense_Mutation_p.A184G|IFI44L_uc010orq.1_Missense_Mutation_p.A184G	p.A447G	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			9	1519	+			447					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.1340C>G	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	6.418	0.445289	0.12164	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.31510	3.08;1.49	3.31	-0.474	0.12108	.	31.125800	0.00166	N	0.000007	T	0.05318	0.0141	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19128	-1.0315	10	0.30854	T	0.27	.	2.5438	0.04732	0.2005:0.2364:0.0:0.5631	.	447	Q53G44	IF44L_HUMAN	G	447;189	ENSP00000359787:A447G;ENSP00000342833:A189G	ENSP00000342833:A189G	A	+	2	0	IFI44L	78880063	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.140000	0.10342	-0.109000	0.12044	-0.416000	0.06073	GCG		0.468	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		79	86	0	0	0	0.00361	0	79	86				
LPHN2	23266	broad.mit.edu	37	1	82409307	82409307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:82409307G>T	ENST00000370728.1	+	8	1697	c.1052G>T	c.(1051-1053)gGa>gTa	p.G351V	LPHN2_ENST00000370730.1_Missense_Mutation_p.G351V|LPHN2_ENST00000271029.4_Missense_Mutation_p.G351V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G351V|LPHN2_ENST00000370715.1_Missense_Mutation_p.G351V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G351V|LPHN2_ENST00000335786.5_Missense_Mutation_p.G351V|LPHN2_ENST00000370725.1_Missense_Mutation_p.G351V|LPHN2_ENST00000359929.3_Missense_Mutation_p.G351V|LPHN2_ENST00000370713.1_Missense_Mutation_p.G351V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.G355V|LPHN2_ENST00000319517.6_Missense_Mutation_p.G351V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G351V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G351V			O95490	LPHN2_HUMAN	latrophilin 2	351	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTAAACCGAGGAGAATATGTA	0.388																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1051-1053)GGA>GTA		latrophilin 2 precursor							157.0	155.0	156.0					1																	82409307		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409307G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1052G>T	1.37:g.82409307G>T	ENSP00000359763:p.Gly351Val					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.G351V|LPHN2_uc001div.2_Missense_Mutation_p.G351V|LPHN2_uc009wcd.2_Missense_Mutation_p.G351V	p.G351V	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	1233	+			351			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1052G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.999737|2.999737	0.54147|0.54147	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.88664	.|-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.92011	.|0.7469	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.987;0.999;0.996	.|P;D;P	.|0.71414	.|0.886;0.973;0.886	.|D	.|0.92283	.|0.5835	.|10	.|0.66056	.|D	.|0.02	.|.	19.4846|19.4846	0.95024|0.95024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|351;351;351	.|O95490-3;O95490-4;O95490-2	.|.;.;.	X|V	219|355;351;351;351;351;351;351;351;351;351;351;351;351;351	.|ENSP00000359756:G355V;ENSP00000359763:G351V;ENSP00000359765:G351V;ENSP00000359762:G351V;ENSP00000359760:G351V;ENSP00000359758:G351V;ENSP00000353006:G351V;ENSP00000359750:G351V;ENSP00000359748:G351V;ENSP00000322270:G351V;ENSP00000359752:G351V;ENSP00000378344:G351V;ENSP00000271029:G351V;ENSP00000337306:G351V	.|ENSP00000271029:G351V	E|G	+|+	1|2	0|0	LPHN2|LPHN2	82181895|82181895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	9.360000|9.360000	0.97119|0.97119	2.589000|2.589000	0.87451|0.87451	0.557000|0.557000	0.71058|0.71058	GAG|GGA		0.388	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		27	79	1	0	2.12542e-12	0.00632	2.70966e-12	27	79				
LPHN2	23266	broad.mit.edu	37	1	82450266	82450266	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:82450266G>T	ENST00000370728.1	+	22	3915		c.e22-1		LPHN2_ENST00000370730.1_Splice_Site|LPHN2_ENST00000271029.4_Splice_Site|LPHN2_ENST00000370727.1_Splice_Site|LPHN2_ENST00000370715.1_Splice_Site|LPHN2_ENST00000394879.1_Splice_Site|LPHN2_ENST00000335786.5_Splice_Site|LPHN2_ENST00000370725.1_Splice_Site|LPHN2_ENST00000359929.3_Splice_Site|LPHN2_ENST00000370713.1_Splice_Site|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Splice_Site|LPHN2_ENST00000319517.6_Splice_Site|LPHN2_ENST00000370723.1_Splice_Site|LPHN2_ENST00000370717.2_Splice_Site			O95490	LPHN2_HUMAN	latrophilin 2						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTCAATGCAGGTACGAAAAG	0.418																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.e19-1		latrophilin 2 precursor							143.0	140.0	141.0					1																	82450266		2203	4300	6503	SO:0001630	splice_region_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450266G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3271-1G>T	1.37:g.82450266G>T						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Splice_Site_p.V1078_splice|LPHN2_uc001div.2_Splice_Site_p.V1078_splice|LPHN2_uc009wcd.2_Splice_Site_p.V1078_splice|LPHN2_uc001diw.2_Splice_Site_p.V662_splice	p.V1078_splice	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	19	3413	+								A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Splice_Site	SNP	ENST00000370728.1	37	c.3232_splice		.	.	.	.	.	.	.	.	.	.	G	18.81	3.704057	0.68615	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786;ENST00000449420;ENST00000402328	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9116	0.97026	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LPHN2	82222854	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.869000	0.99810	2.716000	0.92895	0.484000	0.47621	.		0.418	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	Intron	15	36	1	0	8.60227e-14	0.004007	1.12183e-13	15	36				
SYDE2	84144	broad.mit.edu	37	1	85655845	85655845	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:85655845C>A	ENST00000341460.5	-	2	1385	c.1336G>T	c.(1336-1338)Gcc>Tcc	p.A446S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	446					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GTGGAATGGGCAGGATGTATA	0.453																																							uc009wcm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1336-1338)GCC>TCC		synapse defective 1, Rho GTPase, homolog 2							230.0	221.0	224.0					1																	85655845		1978	4170	6148	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85655845C>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1336G>T	1.37:g.85655845C>A	ENSP00000340594:p.Ala446Ser					SYDE2_uc001dku.3_Missense_Mutation_p.A446S	p.A446S	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1385	-			446					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1336G>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	5.976	0.364103	0.11296	.	.	ENSG00000097096	ENST00000341460	T	0.06933	3.24	6.05	0.568	0.17333	.	0.986398	0.08307	N	0.965924	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.003;0.02	B;B	0.15870	0.006;0.014	T	0.48747	-0.9008	10	0.66056	D	0.02	.	0.8457	0.01161	0.2246:0.2565:0.1157:0.4032	.	446;446	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	S	446	ENSP00000340594:A446S	ENSP00000340594:A446S	A	-	1	0	SYDE2	85428433	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.643000	0.05421	-0.104000	0.12154	-0.300000	0.09419	GCC		0.453	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			86	63	1	0	5.52753e-52	0.00361	1.01138e-51	86	63				
CLCA4	22802	broad.mit.edu	37	1	87012922	87012922	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:87012922T>C	ENST00000370563.3	+	1	162	c.120T>C	c.(118-120)ccT>ccC	p.P40P	CLCA4_ENST00000263723.5_5'Flank	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	40					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTATAGATCCTAGTGTGCCAG	0.289																																							uc009wcs.2		NA																	0				ovary(2)	2						c.(118-120)CCT>CCC		chloride channel accessory 4							121.0	113.0	115.0					1																	87012922		1825	4079	5904	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87012922T>C	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.120T>C	1.37:g.87012922T>C						CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR	p.P40P	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	1	164	+		Lung NSC(277;0.238)	40					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.120T>C	CCDS41355.1																																																																																				0.289	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		23	28	0	0	0	0.00278	0	23	28				
GBP2	2634	broad.mit.edu	37	1	89575510	89575510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:89575510C>A	ENST00000370466.3	-	10	1777	c.1509G>T	c.(1507-1509)atG>atT	p.M503I	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	503					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TTTCCTCCAACATTTTCTTTG	0.373																																							uc001dmz.1		NA																	0				ovary(1)	1						c.(1507-1509)ATG>ATT		guanylate binding protein 2,							139.0	111.0	121.0					1																	89575510		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89575510C>A	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1509G>T	1.37:g.89575510C>A	ENSP00000359497:p.Met503Ile					GBP2_uc001dmy.1_RNA	p.M503I	NM_004120	NP_004111	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	10	1780	-		Lung NSC(277;0.0908)	503					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1509G>T	CCDS719.1	.	.	.	.	.	.	.	.	.	.	C	6.541	0.468009	0.12461	.	.	ENSG00000162645	ENST00000370466	T	0.52983	0.64	3.96	-0.327	0.12694	Guanylate-binding protein, C-terminal (3);	2.309790	0.02236	U	0.065326	T	0.12817	0.0311	N	0.26130	0.795	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.06862	-1.0803	10	0.27082	T	0.32	-22.6295	3.7737	0.08652	0.0:0.4055:0.185:0.4095	.	503	P32456	GBP2_HUMAN	I	503	ENSP00000359497:M503I	ENSP00000359497:M503I	M	-	3	0	GBP2	89348098	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.317000	0.08060	0.056000	0.16144	0.650000	0.86243	ATG		0.373	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		7	35	1	0	8.12818e-05	0.001984	8.70909e-05	7	35				
GBP4	115361	broad.mit.edu	37	1	89654327	89654327	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:89654327A>G	ENST00000355754.6	-	8	1445	c.1348T>C	c.(1348-1350)Tac>Cac	p.Y450H		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	450						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCTTCTAAGTAGAGATTGTGT	0.448																																							uc001dnb.2		NA																	0					0						c.(1348-1350)TAC>CAC		guanylate binding protein 4							260.0	285.0	277.0					1																	89654327		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89654327A>G	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1348T>C	1.37:g.89654327A>G	ENSP00000359490:p.Tyr450His						p.Y450H	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	8	1464	-			450					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1348T>C	CCDS721.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768098	0.69878	.	.	ENSG00000162654	ENST00000355754	T	0.58940	0.3	4.73	4.73	0.59995	Guanylate-binding protein, C-terminal (3);	0.147761	0.46442	D	0.000295	T	0.73265	0.3565	M	0.93978	3.48	0.33944	D	0.643602	P	0.50943	0.94	P	0.60345	0.873	T	0.80874	-0.1187	10	0.62326	D	0.03	.	12.4879	0.55883	1.0:0.0:0.0:0.0	.	450	Q96PP9	GBP4_HUMAN	H	450	ENSP00000359490:Y450H	ENSP00000359490:Y450H	Y	-	1	0	GBP4	89426915	0.949000	0.32298	0.880000	0.34516	0.075000	0.17131	4.014000	0.57145	2.094000	0.63399	0.533000	0.62120	TAC		0.448	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		143	336	0	0	0	0.00361	0	143	336				
BARHL2	343472	broad.mit.edu	37	1	91182132	91182132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:91182132G>T	ENST00000370445.4	-	1	662	c.621C>A	c.(619-621)tgC>tgA	p.C207*		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	207					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ACTCACCGTGGCATTTGATGT	0.602																																					GBM(199;3561 4100 22440)	GBM(199;3561 4100 22440)	uc001dns.2		NA																	0				ovary(1)	1						c.(619-621)TGC>TGA		BarH-like homeobox 2							73.0	65.0	68.0					1																	91182132		2203	4300	6503	SO:0001587	stop_gained	343472					nucleus	sequence-specific DNA binding	g.chr1:91182132G>T	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.621C>A	1.37:g.91182132G>T	ENSP00000359474:p.Cys207*						p.C207*	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	663	-		all_lung(203;0.0263)|Lung SC(238;0.128)	207					A0AVP2|Q7Z4N7	Nonsense_Mutation	SNP	ENST00000370445.4	37	c.621C>A	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	37	6.302829	0.97458	.	.	ENSG00000143032	ENST00000370445	.	.	.	5.93	5.93	0.95920	.	0.046781	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.5172	0.67827	0.0:0.1465:0.8535:0.0	.	.	.	.	X	207	.	ENSP00000359474:C207X	C	-	3	2	BARHL2	90954720	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.028000	0.57246	2.805000	0.96524	0.655000	0.94253	TGC		0.602	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			11	45	1	0	6.40141e-05	0.000978	6.88944e-05	11	45				
HFM1	164045	broad.mit.edu	37	1	91866637	91866637	+	Start_Codon_SNP	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:91866637C>G	ENST00000370425.3	-	2	101	c.3G>C	c.(1-3)atG>atC	p.M1I	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTGATTTCAGCATTGTTGAAA	0.254																																							uc001doa.3		NA																	0					0						c.(1-3)ATG>ATC		HFM1 protein							37.0	40.0	39.0					1																	91866637		2200	4290	6490	SO:0001582	initiator_codon_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91866637C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3G>C	1.37:g.91866637C>G	ENSP00000359454:p.Met1Ile					HFM1_uc010osu.1_5'UTR|HFM1_uc010osv.1_5'UTR|HFM1_uc001doc.1_Missense_Mutation_p.M1I	p.M1I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	2	103	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185176	0.78677	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000455133	T;T	0.64438	-0.1;1.03	5.57	5.57	0.84162	.	.	.	.	.	T	0.74129	0.3676	.	.	.	0.80722	D	1	D;P	0.57899	0.981;0.924	D;P	0.67900	0.954;0.878	T	0.76987	-0.2755	8	0.66056	D	0.02	.	15.0448	0.71819	0.0:1.0:0.0:0.0	.	1;1	B7ZM16;A2PYH4	.;HFM1_HUMAN	I	1;34;1;1	ENSP00000359454:M1I;ENSP00000409827:M1I	ENSP00000359454:M1I	M	-	3	0	HFM1	91639225	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	3.702000	0.54800	2.617000	0.88574	0.555000	0.69702	ATG		0.254	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation	6	15	0	0	0	0.001168	0	6	15				
BRDT	676	broad.mit.edu	37	1	92470805	92470805	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:92470805A>C	ENST00000362005.3	+	19	3142	c.2724A>C	c.(2722-2724)aaA>aaC	p.K908N	BRDT_ENST00000402388.1_Missense_Mutation_p.K908N|BRDT_ENST00000370389.2_Missense_Mutation_p.K835N|BRDT_ENST00000394530.3_Missense_Mutation_p.K862N|BRDT_ENST00000399546.2_Missense_Mutation_p.K908N	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	908					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GGCTTCTCAAAGACCGTGATT	0.363																																							uc001dok.3		NA																	0				stomach(2)|ovary(1)|lung(1)	4						c.(2722-2724)AAA>AAC		testis-specific bromodomain protein							115.0	119.0	117.0					1																	92470805		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92470805A>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2724A>C	1.37:g.92470805A>C	ENSP00000354568:p.Lys908Asn					BRDT_uc001dol.3_Missense_Mutation_p.K908N|BRDT_uc010osz.1_Missense_Mutation_p.K912N|BRDT_uc009wdf.2_Missense_Mutation_p.K835N|BRDT_uc010ota.1_Missense_Mutation_p.K862N|BRDT_uc010otb.1_Missense_Mutation_p.K862N|BRDT_uc001dom.3_Missense_Mutation_p.K908N	p.K908N	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	18	3073	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	908					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.2724A>C	CCDS735.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.445069	0.43429	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.07567	3.18;3.19;3.18;3.24;3.18	5.39	3.03	0.35002	.	0.317635	0.27060	N	0.021139	T	0.03095	0.0091	M	0.64997	1.995	0.32212	N	0.576386	B;B;B;B	0.18013	0.025;0.025;0.025;0.025	B;B;B;B	0.14578	0.011;0.011;0.011;0.011	T	0.23868	-1.0176	10	0.72032	D	0.01	-6.0193	3.7321	0.08496	0.6692:0.0:0.1712:0.1596	.	862;862;912;908	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	N	908;835;908;862;908	ENSP00000354568:K908N;ENSP00000359416:K835N;ENSP00000387822:K908N;ENSP00000378038:K862N;ENSP00000384051:K908N	ENSP00000354568:K908N	K	+	3	2	BRDT	92243393	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	1.024000	0.30077	0.341000	0.23771	0.379000	0.24179	AAA		0.363	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		60	48	0	0	0	0.00361	0	60	48				
EVI5	7813	broad.mit.edu	37	1	93201972	93201972	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:93201972T>A	ENST00000370331.1	-	2	273	c.264A>T	c.(262-264)aaA>aaT	p.K88N	EVI5_ENST00000543509.1_Missense_Mutation_p.K88N|EVI5_ENST00000540033.1_Missense_Mutation_p.K88N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	88	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GTTCTTCCAGTTTAGCCAGGA	0.398																																							uc001dox.2		NA																	0				ovary(1)|breast(1)	2						c.(262-264)AAA>AAT		ecotropic viral integration site 5							173.0	158.0	163.0					1																	93201972		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93201972T>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.264A>T	1.37:g.93201972T>A	ENSP00000359356:p.Lys88Asn					EVI5_uc010otf.1_Missense_Mutation_p.K88N	p.K88N	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	2	274	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	88			Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.264A>T	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596901	0.66332	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.06142	3.36;3.36;3.34	5.15	0.195	0.15151	.	0.000000	0.85682	D	0.000000	T	0.09379	0.0231	L	0.58810	1.83	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.02498	-1.1150	10	0.87932	D	0	-21.3036	9.2488	0.37543	0.0:0.1573:0.0:0.8427	.	88;88	F5H4R0;O60447	.;EVI5_HUMAN	N	88	ENSP00000359356:K88N;ENSP00000440826:K88N;ENSP00000445019:K88N	ENSP00000359356:K88N	K	-	3	2	EVI5	92974560	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	0.740000	0.26188	-0.213000	0.10094	-0.425000	0.05940	AAA		0.398	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		28	21	0	0	0	0.00632	0	28	21				
EVI5	7813	broad.mit.edu	37	1	93257926	93257926	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:93257926G>T	ENST00000370331.1	-	1	35	c.26C>A	c.(25-27)gCc>gAc	p.A9D	EVI5_ENST00000543509.1_Missense_Mutation_p.A9D|EVI5_ENST00000540033.1_Missense_Mutation_p.A9D	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	9	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GTTTCTAAAGGCAGCAGTCAT	0.333																																							uc001dox.2		NA																	0				ovary(1)|breast(1)	2						c.(25-27)GCC>GAC		ecotropic viral integration site 5							113.0	111.0	112.0					1																	93257926		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93257926G>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.26C>A	1.37:g.93257926G>T	ENSP00000359356:p.Ala9Asp					EVI5_uc010otf.1_Missense_Mutation_p.A9D	p.A9D	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	1	36	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	9			Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.26C>A	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242064	0.39598	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05139	3.49;3.49;3.49	5.16	0.91	0.19337	.	0.978075	0.08385	N	0.953841	T	0.01523	0.0049	N	0.08118	0	0.35618	D	0.809207	P;P	0.39883	0.693;0.567	B;B	0.40636	0.335;0.18	T	0.51028	-0.8757	10	0.59425	D	0.04	-0.2023	7.7701	0.29004	0.3815:0.0:0.6185:0.0	.	9;9	F5H4R0;O60447	.;EVI5_HUMAN	D	9	ENSP00000359356:A9D;ENSP00000440826:A9D;ENSP00000445019:A9D	ENSP00000359356:A9D	A	-	2	0	EVI5	93030514	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	0.922000	0.28734	0.155000	0.19261	0.561000	0.74099	GCC		0.333	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		11	28	1	0	0.00136819	0.001368	0.00142493	11	28				
PLPPR4	9890	broad.mit.edu	37	1	99771894	99771894	+	Silent	SNP	T	T	A	rs528083199		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:99771894T>A	ENST00000370185.3	+	7	2117	c.1620T>A	c.(1618-1620)acT>acA	p.T540T	LPPR4_ENST00000370184.1_Silent_p.T382T|LPPR4_ENST00000457765.1_Silent_p.T482T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		540					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAGGAGACTCAGGAAAACA	0.557																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1618-1620)ACT>ACA		plasticity related gene 1							102.0	107.0	105.0					1																	99771894		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99771894T>A																												ENST00000370185.3:c.1620T>A	1.37:g.99771894T>A						LPPR4_uc010oue.1_Silent_p.T482T	p.T540T	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1726	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	540					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1620T>A	CCDS757.1																																																																																				0.557	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			90	62	0	0	0	0.00361	0	90	62				
AMY2A	279	broad.mit.edu	37	1	104160642	104160642	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:104160642C>G	ENST00000414303.2	+	2	299	c.235C>G	c.(235-237)Cca>Gca	p.P79A		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	79					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	AAGATACCAACCAGTTAGCTA	0.353																																							uc001dut.2		NA																	0				ovary(1)|skin(1)	2						c.(235-237)CCA>GCA		pancreatic amylase alpha 2A precursor	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						159.0	146.0	151.0					1																	104160642		2201	4278	6479	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160642C>G	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.235C>G	1.37:g.104160642C>G	ENSP00000397582:p.Pro79Ala					AMY2A_uc010ouq.1_Missense_Mutation_p.P79A	p.P79A	NM_000699	NP_000690	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	2	299	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	79					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.235C>G	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.54|19.54	3.847728|3.847728	0.71603|0.71603	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	D|.	0.98150|.	-4.75|.	3.47|3.47	3.47|3.47	0.39725|0.39725	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85856|0.85856	0.5794|0.5794	H|H	0.97635|0.97635	4.045|4.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.91072|0.91072	0.4893|0.4893	10|5	0.87932|.	D|.	0|.	.|.	15.0729|15.0729	0.72053|0.72053	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	79;79|.	B9EJG1;P04746|.	.;AMYP_HUMAN|.	A|S	79|77	ENSP00000397582:P79A|.	ENSP00000377509:P79A|.	P|T	+|+	1|2	0|0	AMY2A|AMY2A	103962165|103962165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.359000|7.359000	0.79477|0.79477	1.927000|1.927000	0.55829|0.55829	0.455000|0.455000	0.32223|0.32223	CCA|ACC		0.353	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		30	70	0	0	0	0.009535	0	30	70				
NTNG1	22854	broad.mit.edu	37	1	107691462	107691462	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:107691462G>C	ENST00000370068.1	+	2	1092		c.e2+1		NTNG1_ENST00000370072.3_Splice_Site|NTNG1_ENST00000370073.2_Splice_Site|NTNG1_ENST00000370065.1_Splice_Site|NTNG1_ENST00000370074.4_Splice_Site|NTNG1_ENST00000370067.1_Splice_Site|NTNG1_ENST00000370066.1_Splice_Site|NTNG1_ENST00000542803.1_Splice_Site|NTNG1_ENST00000370061.3_Splice_Site|NTNG1_ENST00000370070.2_Splice_Site|NTNG1_ENST00000370071.2_Splice_Site			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGTGCAATGGTGAGGTAACC	0.423																																							uc001dvh.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.e2+1		netrin G1 isoform 1							97.0	101.0	100.0					1																	107691462		2203	4299	6502	SO:0001630	splice_region_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107691462G>C	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.246+1G>C	1.37:g.107691462G>C						NTNG1_uc001dvf.3_Splice_Site_p.M82_splice|NTNG1_uc010out.1_Splice_Site_p.M82_splice|NTNG1_uc001dvc.3_Splice_Site_p.M82_splice|NTNG1_uc001dvd.1_Splice_Site_p.M82_splice	p.M82_splice	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	964	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)						Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Splice_Site	SNP	ENST00000370068.1	37	c.246_splice	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903154	0.72754	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4943	0.95065	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTNG1	107492985	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.420000	0.97426	2.677000	0.91161	0.491000	0.48974	.		0.423	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	Intron	18	40	0	0	0	0.006122	0	18	40				
NTNG1	22854	broad.mit.edu	37	1	107937821	107937821	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:107937821C>A	ENST00000370068.1	+	4	1779	c.933C>A	c.(931-933)agC>agA	p.S311R	NTNG1_ENST00000370072.3_Missense_Mutation_p.S311R|NTNG1_ENST00000370073.2_Missense_Mutation_p.S311R|NTNG1_ENST00000370065.1_Missense_Mutation_p.S311R|NTNG1_ENST00000370074.4_Missense_Mutation_p.S311R|NTNG1_ENST00000370067.1_Missense_Mutation_p.S311R|NTNG1_ENST00000370066.1_Missense_Mutation_p.S311R|NTNG1_ENST00000542803.1_Missense_Mutation_p.S311R|NTNG1_ENST00000370061.3_Missense_Mutation_p.S311R|NTNG1_ENST00000370070.2_Missense_Mutation_p.S311R|NTNG1_ENST00000370071.2_Missense_Mutation_p.S311R			Q9Y2I2	NTNG1_HUMAN	netrin G1	311	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATGACAACAGCAAATTGACAT	0.478																																							uc001dvh.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(931-933)AGC>AGA		netrin G1 isoform 1							206.0	194.0	198.0					1																	107937821		2203	4300	6503	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107937821C>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.933C>A	1.37:g.107937821C>A	ENSP00000359085:p.Ser311Arg					NTNG1_uc001dvf.3_Missense_Mutation_p.S311R|NTNG1_uc010out.1_Missense_Mutation_p.S311R|NTNG1_uc001dvc.3_Missense_Mutation_p.S311R|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.S311R	p.S311R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	4	1651	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	311			Laminin EGF-like 1.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.933C>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695112	0.48202	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.8	4.79	0.61399	EGF-like, laminin (3);	0.234553	0.38058	N	0.001824	T	0.30541	0.0768	N	0.25031	0.7	0.32787	N	0.501668	B;B;B;B;B	0.28900	0.227;0.027;0.096;0.025;0.096	B;B;B;B;B	0.31390	0.129;0.053;0.065;0.009;0.065	T	0.30563	-0.9974	10	0.62326	D	0.03	.	6.6945	0.23191	0.2317:0.6563:0.0:0.1119	.	311;311;311;311;311	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	R	311;311;311;311;311;311;311;311;72;72;311;311;311;311;311;311	ENSP00000359090:S311R;ENSP00000359088:S311R;ENSP00000440561:S311R;ENSP00000359078:S311R;ENSP00000359089:S311R;ENSP00000359087:S311R;ENSP00000359091:S311R;ENSP00000359085:S311R;ENSP00000359084:S311R;ENSP00000359083:S311R;ENSP00000359082:S311R	ENSP00000294649:S311R	S	+	3	2	NTNG1	107739344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.280000	0.43443	2.751000	0.94390	0.650000	0.86243	AGC		0.478	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		44	70	1	0	1.61863e-15	0.00361	2.19525e-15	44	70				
VAV3	10451	broad.mit.edu	37	1	108138931	108138931	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:108138931G>T	ENST00000370056.4	-	25	2527	c.2253C>A	c.(2251-2253)ctC>ctA	p.L751L	VAV3_ENST00000527011.1_Silent_p.L751L|VAV3_ENST00000415432.2_Silent_p.L191L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Silent_p.L155L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	751	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACCCTTCCTTGAGAGAATGAT	0.408																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(2251-2253)CTC>CTA		vav 3 guanine nucleotide exchange factor isoform							145.0	137.0	139.0					1																	108138931		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108138931G>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2253C>A	1.37:g.108138931G>T						VAV3_uc010ouu.1_Silent_p.L155L|VAV3_uc001dvj.1_Silent_p.L191L|VAV3_uc010ouv.1_Silent_p.L155L|VAV3_uc010ouw.1_Silent_p.L751L	p.L751L	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	25	2307	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	751			SH2.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.2253C>A	CCDS785.1																																																																																				0.408	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		22	42	1	0	2.37509e-13	0.010504	3.07458e-13	22	42				
VAV3	10451	broad.mit.edu	37	1	108313319	108313319	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:108313319C>G	ENST00000370056.4	-	6	861	c.587G>C	c.(586-588)tGt>tCt	p.C196S	VAV3_ENST00000527011.1_Missense_Mutation_p.C196S|VAV3_ENST00000371846.4_Missense_Mutation_p.C131S|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	196	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTCTGCTAGACAACAACTTCG	0.299																																							uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(586-588)TGT>TCT		vav 3 guanine nucleotide exchange factor isoform							118.0	123.0	121.0					1																	108313319		2202	4297	6499	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108313319C>G	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.587G>C	1.37:g.108313319C>G	ENSP00000359073:p.Cys196Ser					VAV3_uc010ouw.1_Missense_Mutation_p.C196S|VAV3_uc001dvl.1_Missense_Mutation_p.C20S|VAV3_uc010oux.1_Missense_Mutation_p.C196S	p.C196S	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	6	641	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	196			DH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.587G>C	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.820734|4.820734	0.90873|0.90873	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.62941|.	-0.01;-0.01;-0.01|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Dbl homology (DH) domain (5);Calponin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80199|0.80199	0.4579|0.4579	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.84;1.0;1.0;1.0|.	P;D;D;D|.	0.91635|.	0.714;0.997;0.994;0.999|.	T|T	0.79945|0.79945	-0.1589|-0.1589	10|5	0.87932|.	D|.	0|.	.|.	20.0706|20.0706	0.97721|0.97721	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	196;196;131;196|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	S|L	196;196;131|191	ENSP00000359073:C196S;ENSP00000432540:C196S;ENSP00000360912:C131S|.	ENSP00000359073:C196S|.	C|V	-|-	2|1	0|0	VAV3|VAV3	108114842|108114842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.229000|7.229000	0.78088|0.78088	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.299	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		15	36	0	0	0	0.004007	0	15	36				
CELSR2	1952	broad.mit.edu	37	1	109792961	109792961	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:109792961A>G	ENST00000271332.3	+	1	321	c.260A>G	c.(259-261)cAc>cGc	p.H87R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	87					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACCCCACCACGATGGCCTG	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(259-261)CAC>CGC		cadherin EGF LAG seven-pass G-type receptor 2							57.0	59.0	59.0					1																	109792961		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792961A>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.260A>G	1.37:g.109792961A>G	ENSP00000271332:p.His87Arg						p.H87R	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	321	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	87			Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.260A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	11.70	1.716048	0.30413	.	.	ENSG00000143126	ENST00000271332	T	0.66815	-0.23	4.6	3.38	0.38709	.	.	.	.	.	T	0.21718	0.0523	N	0.08118	0	0.09310	N	0.999999	B	0.16603	0.018	B	0.15052	0.012	T	0.11227	-1.0596	9	0.19147	T	0.46	.	7.3689	0.26790	0.7156:0.0:0.0:0.2844	.	87	Q9HCU4	CELR2_HUMAN	R	87	ENSP00000271332:H87R	ENSP00000271332:H87R	H	+	2	0	CELSR2	109594484	0.000000	0.05858	1.000000	0.80357	0.907000	0.53573	0.005000	0.13129	2.068000	0.61886	0.414000	0.27820	CAC		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		40	48	0	0	0	0.004878	0	40	48				
UBL4B	164153	broad.mit.edu	37	1	110655547	110655547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:110655547G>T	ENST00000334179.3	+	1	486	c.391G>T	c.(391-393)Gag>Tag	p.E131*		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	131						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGAGCACCTGGAGCAGCTGGC	0.612																																							uc001dzc.2		NA																	0				ovary(1)	1						c.(391-393)GAG>TAG		ubiquitin-like 4B							19.0	22.0	21.0					1																	110655547		2203	4299	6502	SO:0001587	stop_gained	164153					cytoplasm		g.chr1:110655547G>T		CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.391G>T	1.37:g.110655547G>T	ENSP00000334044:p.Glu131*						p.E131*	NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	486	+		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	131						Nonsense_Mutation	SNP	ENST00000334179.3	37	c.391G>T	CCDS820.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250994	0.95305	.	.	ENSG00000186150	ENST00000334179	.	.	.	4.19	3.25	0.37280	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.1074	10.982	0.47499	0.0:0.1903:0.8097:0.0	.	.	.	.	X	131	.	ENSP00000334044:E131X	E	+	1	0	UBL4B	110457070	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.358000	0.59442	0.919000	0.36945	0.491000	0.48974	GAG		0.612	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412		6	9	1	0	0.00116845	0.001168	0.00121886	6	9				
KCND3	3752	broad.mit.edu	37	1	112524472	112524472	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:112524472G>A	ENST00000315987.2	-	2	1356	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	KCND3_ENST00000369697.1_Missense_Mutation_p.R293C|KCND3_ENST00000302127.4_Missense_Mutation_p.R293C	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	293					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R293C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGAAGACGCGGAAGACCCGG	0.587																																							uc001ebu.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|large_intestine(1)	3						c.(877-879)CGC>TGC		potassium voltage-gated channel, Shal-related							78.0	80.0	79.0					1																	112524472		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524472G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.877C>T	1.37:g.112524472G>A	ENSP00000319591:p.Arg293Cys					KCND3_uc001ebv.1_Missense_Mutation_p.R293C	p.R293C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1357	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	293			Helical; Voltage-sensor; Name=Segment S4; (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.877C>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839308	0.71488	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.98835	-5.17;-5.17;-5.17	5.63	5.63	0.86233	Ion transport (1);	0.047854	0.85682	D	0.000000	D	0.99524	0.9830	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98095	1.0411	10	0.87932	D	0	.	14.1682	0.65490	0.0:0.0:0.8123:0.1877	.	293;293	Q14D71;Q9UK17	.;KCND3_HUMAN	C	293	ENSP00000358711:R293C;ENSP00000319591:R293C;ENSP00000306923:R293C	ENSP00000306923:R293C	R	-	1	0	KCND3	112325995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.375000	0.59549	2.659000	0.90383	0.655000	0.94253	CGC		0.587	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		20	29	0	0	0	0.008871	0	20	29				
WNT2B	7482	broad.mit.edu	37	1	113058873	113058873	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:113058873C>A	ENST00000369684.4	+	3	1000	c.515C>A	c.(514-516)aCc>aAc	p.T172N	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000256640.5_Missense_Mutation_p.T80N|WNT2B_ENST00000369686.5_Missense_Mutation_p.T153N|WNT2B_ENST00000478360.1_3'UTR	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	172					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCCCTACACCCGTGGCCGA	0.577																																							uc001ecb.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(514-516)ACC>AAC		wingless-type MMTV integration site family,							169.0	149.0	156.0					1																	113058873		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113058873C>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.515C>A	1.37:g.113058873C>A	ENSP00000358698:p.Thr172Asn					WNT2B_uc001eca.2_Missense_Mutation_p.T153N|WNT2B_uc009wgg.2_Missense_Mutation_p.T80N	p.T172N	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1030	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	172					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.515C>A	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988245	0.53934	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75589	-0.95;-0.95;-0.95	5.63	4.66	0.58398	.	0.043786	0.85682	D	0.000000	T	0.40448	0.1117	N	0.03029	-0.43	0.34289	D	0.683026	B;B	0.29085	0.232;0.02	B;B	0.37346	0.247;0.003	T	0.46484	-0.9188	10	0.38643	T	0.18	.	11.7467	0.51823	0.3317:0.6683:0.0:0.0	.	172;153	Q93097;Q93097-2	WNT2B_HUMAN;.	N	80;153;172	ENSP00000256640:T80N;ENSP00000358700:T153N;ENSP00000358698:T172N	ENSP00000256640:T80N	T	+	2	0	WNT2B	112860396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.272000	0.58908	2.637000	0.89404	0.561000	0.74099	ACC		0.577	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		37	62	1	0	1.59361e-14	0.006999	2.10522e-14	37	62				
PTPN22	26191	broad.mit.edu	37	1	114377049	114377049	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:114377049G>A	ENST00000359785.5	-	15	2042	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	PTPN22_ENST00000538253.1_Missense_Mutation_p.P392L|PTPN22_ENST00000528414.1_Missense_Mutation_p.P581L|PTPN22_ENST00000525799.1_Missense_Mutation_p.P509L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P636L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	636					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAACATTTGGTGAGAATTC	0.358																																							uc001eds.2		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(1906-1908)CCA>CTA		protein tyrosine phosphatase, non-receptor type							123.0	124.0	124.0					1																	114377049		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114377049G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1907C>T	1.37:g.114377049G>A	ENSP00000352833:p.Pro636Leu					PTPN22_uc009wgq.2_Missense_Mutation_p.P581L|PTPN22_uc010owo.1_Missense_Mutation_p.P392L|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P636L|PTPN22_uc009wgs.2_Missense_Mutation_p.P509L|PTPN22_uc001edu.2_Missense_Mutation_p.P636L	p.P636L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2037	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	636					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1907C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	9.556	1.117194	0.20795	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.8	-3.05	0.05396	.	1.635520	0.03259	N	0.182946	T	0.05868	0.0153	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.003;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.09377	0.004;0.003;0.001;0.0;0.002;0.001	T	0.18147	-1.0346	10	0.22706	T	0.39	.	4.6726	0.12696	0.2616:0.0:0.3595:0.3789	.	392;509;636;581;636;636	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	L	636;581;392;636;509;636	ENSP00000352833:P636L;ENSP00000435176:P581L;ENSP00000439372:P392L;ENSP00000388229:P636L;ENSP00000432674:P509L	ENSP00000346621:P636L	P	-	2	0	PTPN22	114178572	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-0.143000	0.10296	-0.333000	0.08476	0.561000	0.74099	CCA		0.358	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		30	48	0	0	0	0.002836	0	30	48				
AP4B1	10717	broad.mit.edu	37	1	114442706	114442706	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:114442706T>A	ENST00000369569.1	-	5	1214	c.934A>T	c.(934-936)Agc>Tgc	p.S312C	AP4B1_ENST00000369567.1_Missense_Mutation_p.S144C|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000256658.4_Missense_Mutation_p.S312C|AP4B1_ENST00000369566.3_Missense_Mutation_p.S219C|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	312					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGTGGCTGCTAAAGTGACCT	0.468																																							uc001eeb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(934-936)AGC>TGC		adaptor-related protein complex 4, beta 1							99.0	108.0	105.0					1																	114442706		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442706T>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.934A>T	1.37:g.114442706T>A	ENSP00000358582:p.Ser312Cys					uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.S144C|AP4B1_uc001eed.2_Missense_Mutation_p.S312C|AP4B1_uc010owp.1_Missense_Mutation_p.S213C|AP4B1_uc001eea.1_Missense_Mutation_p.S106C|AP4B1_uc001eee.1_5'Flank|AP4B1_uc010owq.1_Missense_Mutation_p.S219C	p.S312C	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1077	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	312					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.934A>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741360	0.69304	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;2.58;1.7;1.7	5.03	3.89	0.44902	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.130079	0.64402	D	0.000001	T	0.36248	0.0960	M	0.71871	2.18	0.48762	D	0.999709	D;D;D;D	0.76494	0.999;0.992;0.996;0.992	D;P;D;P	0.69142	0.962;0.895;0.954;0.895	T	0.22836	-1.0205	10	0.72032	D	0.01	.	10.3818	0.44117	0.0:0.0775:0.0:0.9225	.	219;144;312;213	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	C	144;312;312;219;237;144	ENSP00000358580:S144C;ENSP00000358582:S312C;ENSP00000256658:S312C;ENSP00000358579:S219C;ENSP00000358577:S237C;ENSP00000393622:S144C	ENSP00000256658:S312C	S	-	1	0	AP4B1	114244229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.348000	0.59379	2.013000	0.59113	0.379000	0.24179	AGC		0.468	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		64	78	0	0	0	0.00361	0	64	78				
HIPK1	204851	broad.mit.edu	37	1	114499307	114499307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:114499307G>T	ENST00000369558.1	+	6	1698	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	HIPK1_ENST00000426820.2_Missense_Mutation_p.R489I|HIPK1_ENST00000369559.4_Missense_Mutation_p.R489I|HIPK1_ENST00000340480.4_Missense_Mutation_p.R115I|HIPK1_ENST00000406344.1_Missense_Mutation_p.R95I|HIPK1_ENST00000369561.4_Missense_Mutation_p.R489I|HIPK1_ENST00000369555.2_Missense_Mutation_p.R489I|HIPK1_ENST00000369554.2_Missense_Mutation_p.R489I|HIPK1_ENST00000369553.1_Missense_Mutation_p.R95I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	489	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGACCGAAGAGAATACATT	0.378																																							uc001eem.2		NA																	0				ovary(4)	4						c.(1465-1467)AGA>ATA		homeodomain-interacting protein kinase 1 isoform							108.0	104.0	106.0					1																	114499307		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499307G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1466G>T	1.37:g.114499307G>T	ENSP00000358571:p.Arg489Ile					HIPK1_uc001eel.2_Missense_Mutation_p.R489I|HIPK1_uc001een.2_Missense_Mutation_p.R489I|HIPK1_uc001eeo.2_Missense_Mutation_p.R115I|HIPK1_uc001eep.2_Missense_Mutation_p.R95I	p.R489I	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1627	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	489			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1466G>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186743	0.94923	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;1.84;1.84	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	N	0.17082	0.46	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.994	D;D;D	0.81914	0.994;0.995;0.983	T	0.65936	-0.6047	10	0.51188	T	0.08	.	18.6579	0.91460	0.0:0.0:1.0:0.0	.	95;489;489	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	I	560;489;489;489;489;489;489;115;95;95	ENSP00000407442:R560I;ENSP00000358572:R489I;ENSP00000409673:R489I;ENSP00000358567:R489I;ENSP00000358568:R489I;ENSP00000358571:R489I;ENSP00000358574:R489I;ENSP00000340956:R115I;ENSP00000358566:R95I;ENSP00000384960:R95I	ENSP00000340956:R115I	R	+	2	0	HIPK1	114300830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.646000	0.89796	0.650000	0.86243	AGA		0.378	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		14	16	1	0	0.00244969	0.00245	0.00253897	14	16				
IGSF3	3321	broad.mit.edu	37	1	117146412	117146412	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:117146412C>G	ENST00000369486.3	-	6	2223	c.1458G>C	c.(1456-1458)atG>atC	p.M486I	IGSF3_ENST00000318837.6_Missense_Mutation_p.M506I|IGSF3_ENST00000369483.1_Missense_Mutation_p.M506I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	486	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCACCTGCTCCATCTGGACGC	0.617																																							uc001egr.1		NA																	0				ovary(2)	2						c.(1456-1458)ATG>ATC		immunoglobulin superfamily, member 3 isoform 2							72.0	62.0	65.0					1																	117146412		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117146412C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1458G>C	1.37:g.117146412C>G	ENSP00000358498:p.Met486Ile					IGSF3_uc001egq.1_Missense_Mutation_p.M506I|IGSF3_uc001egs.1_Missense_Mutation_p.M159I	p.M486I	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	6	2163	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	486			Ig-like C2-type 4.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1458G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514189	0.64522	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64991	-0.13;-0.13;-0.13	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.275966	0.43260	D	0.000582	T	0.39784	0.1091	N	0.22421	0.69	0.52099	D	0.999945	B;B;B	0.31153	0.099;0.31;0.121	B;B;B	0.32980	0.042;0.156;0.07	T	0.47355	-0.9124	10	0.56958	D	0.05	-43.4857	16.4297	0.83837	0.0:1.0:0.0:0.0	.	506;486;506	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	I	486;506;506	ENSP00000358498:M486I;ENSP00000358495:M506I;ENSP00000321184:M506I	ENSP00000321184:M506I	M	-	3	0	IGSF3	116947935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.427000	0.66483	2.735000	0.93741	0.557000	0.71058	ATG		0.617	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		22	26	0	0	0	0.002299	0	22	26				
IGSF3	3321	broad.mit.edu	37	1	117158852	117158852	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:117158852C>G	ENST00000369486.3	-	3	1036	c.271G>C	c.(271-273)Ggg>Cgg	p.G91R	IGSF3_ENST00000318837.6_Missense_Mutation_p.G91R|IGSF3_ENST00000369483.1_Missense_Mutation_p.G91R	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	91	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AAGATCTTCCCTCCGCGGACG	0.567																																							uc001egr.1		NA																	0				ovary(2)	2						c.(271-273)GGG>CGG		immunoglobulin superfamily, member 3 isoform 2							22.0	20.0	21.0					1																	117158852		2202	4280	6482	SO:0001583	missense	3321					integral to membrane		g.chr1:117158852C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.271G>C	1.37:g.117158852C>G	ENSP00000358498:p.Gly91Arg					IGSF3_uc001egq.1_Missense_Mutation_p.G91R	p.G91R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	976	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	91			Ig-like C2-type 1.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.271G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959958	0.34565	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.57595	0.39;0.39;0.39	4.49	4.49	0.54785	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186642	0.48286	D	0.000186	T	0.38719	0.1051	L	0.46885	1.475	0.39290	D	0.96472	P;B	0.35844	0.524;0.011	B;B	0.42112	0.376;0.06	T	0.25537	-1.0129	10	0.26408	T	0.33	-51.8493	15.0484	0.71844	0.0:1.0:0.0:0.0	.	91;91	O75054;A6NJZ6	IGSF3_HUMAN;.	R	91	ENSP00000358498:G91R;ENSP00000358495:G91R;ENSP00000321184:G91R	ENSP00000321184:G91R	G	-	1	0	IGSF3	116960375	0.006000	0.16342	0.826000	0.32828	0.965000	0.64279	0.724000	0.25954	2.479000	0.83701	0.555000	0.69702	GGG		0.567	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		10	19	0	0	0	0.006214	0	10	19				
TBX15	6913	broad.mit.edu	37	1	119441667	119441667	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:119441667G>T	ENST00000369429.3	-	7	1017	c.1008C>A	c.(1006-1008)acC>acA	p.T336T	TBX15_ENST00000207157.3_Silent_p.T230T			Q96SF7	TBX15_HUMAN	T-box 15	336					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCTTCTGCATGGTGGTGAAGT	0.527																																							uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(688-690)ACC>ACA		T-box 15							131.0	112.0	119.0					1																	119441667		2203	4300	6503	SO:0001819	synonymous_variant	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119441667G>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1008C>A	1.37:g.119441667G>T						TBX15_uc009whj.1_Silent_p.T21T	p.T230T	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	7	1005	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	336					Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37	c.690C>A																																																																																					0.527	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		18	33	1	0	2.5808e-16	0.006122	3.5525e-16	18	33				
NBPF7	343505	broad.mit.edu	37	1	120384152	120384152	+	IGR	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:120384152C>T								REG4 (29869 upstream) : ADAM30 (52003 downstream)																							GGAGGCATCTCTCCCTTCCCG	0.498																																							uc010oxk.1		NA																	0				ovary(1)|skin(1)	2						c.(409-411)AGA>AAA		hypothetical protein LOC343505							136.0	152.0	146.0					1																	120384152		2203	4300	6503	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120384152C>T																													1.37:g.120384152C>T							p.R137K	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	3	1031	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	137			Potential.			Missense_Mutation	SNP		37	c.410G>A																																																																																				0	0.498									66	128	0	0	0	0.00361	0	66	128				
PDE4DIP	9659	broad.mit.edu	37	1	144882701	144882701	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:144882701C>A	ENST00000369354.3	-	24	3507	c.3318G>T	c.(3316-3318)caG>caT	p.Q1106H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q1243H|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1243H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1106H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1106					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCAGTTTTCCCTGGAGCTTTC	0.478			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3316-3318)CAG>CAT		phosphodiesterase 4D interacting protein isoform							259.0	250.0	253.0					1																	144882701		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882701C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3318G>T	1.37:g.144882701C>A	ENSP00000358360:p.Gln1106His					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q113H	p.Q1106H	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3609	-			1106			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3318G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.47|12.47	1.948142|1.948142	0.34377|0.34377	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530592|ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T	.|0.01548	.|4.78;4.78;4.78;4.78	5.84|5.84	1.45|1.45	0.22620|0.22620	.|.	.|.	.|.	.|.	.|.	T|T	0.00666|0.00666	0.0022|0.0022	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.08055	.|0.003	T|T	0.43605|0.43605	-0.9381|-0.9381	5|9	.|0.49607	.|T	.|0.09	.|.	2.4882|2.4882	0.04604|0.04604	0.138:0.4645:0.2371:0.1604|0.138:0.4645:0.2371:0.1604	.|.	.|1106	.|Q5VU43	.|MYOME_HUMAN	W|H	1|1106;1106;1243;1243	.|ENSP00000358360:Q1106H;ENSP00000358363:Q1106H;ENSP00000435654:Q1243H;ENSP00000358366:Q1243H	.|ENSP00000358360:Q1106H	G|Q	-|-	1|3	0|2	PDE4DIP|PDE4DIP	143594058|143594058	0.952000|0.952000	0.32445|0.32445	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.139000|0.139000	0.16036|0.16036	0.797000|0.797000	0.33971|0.33971	-0.136000|-0.136000	0.14681|0.14681	GGG|CAG		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		38	222	1	0	2.52637e-11	0.005524	3.16042e-11	38	222				
NOTCH2NL	388677	broad.mit.edu	37	1	145273203	145273203	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:145273203G>T	ENST00000369340.3	+	4	501	c.57G>T	c.(55-57)ttG>ttT	p.L19F	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.L19F|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.L19F|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.L19F			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	19	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.			L -> S (in Ref. 1; BAC11381). {ECO:0000305}.	cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AAGGCTTCTTGGGGGAATATT	0.473																																							uc001emn.3		NA																	0				ovary(1)	1						c.(55-57)TTG>TTT		Notch homolog 2 N-terminal like protein							26.0	31.0	29.0					1																	145273203		2200	4276	6476	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273203G>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.57G>T	1.37:g.145273203G>T	ENSP00000358346:p.Leu19Phe					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.L19F|NOTCH2NL_uc001emo.2_Missense_Mutation_p.L19F|NOTCH2NL_uc010oyh.1_RNA	p.L19F	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			3	427	+			19	L -> S (in Ref. 1; BAC11381).		EGF-like 1.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.57G>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987889	0.35036	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.77098	-1.07;-1.07;-1.07	2.75	0.725	0.18242	EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.59662	0.2210	N	0.17082	0.46	0.23981	N	0.996273	D;D	0.71674	0.998;0.997	D;D	0.71184	0.972;0.944	T	0.49735	-0.8908	9	0.40728	T	0.16	.	3.2416	0.06783	0.1425:0.0:0.3927:0.4647	.	19;19	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	F	19	ENSP00000354929:L19F;ENSP00000344557:L19F;ENSP00000358346:L19F	ENSP00000344557:L19F	L	+	3	2	NOTCH2NL	143984560	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.080000	0.30779	0.451000	0.26802	0.394000	0.25966	TTG		0.473	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		14	79	1	0	6.49762e-13	0.006122	8.33315e-13	14	79				
NOTCH2NL	388677	broad.mit.edu	37	1	145281550	145281550	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:145281550C>T	ENST00000369340.3	+	5	924	c.480C>T	c.(478-480)ctC>ctT	p.L160L	NOTCH2NL_ENST00000344859.3_Silent_p.L160L|RP11-458D21.5_ENST00000468030.1_Silent_p.L160L|NOTCH2NL_ENST00000362074.6_Silent_p.L160L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	160	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L160L(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCACCTGCCTCAACCTGCCTG	0.562																																							uc001emn.3		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(478-480)CTC>CTT		Notch homolog 2 N-terminal like protein							162.0	168.0	166.0					1																	145281550		2203	4300	6503	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281550C>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.480C>T	1.37:g.145281550C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L160L|NOTCH2NL_uc001emo.2_Silent_p.L160L|NOTCH2NL_uc010oyh.1_RNA	p.L160L	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	850	+			160			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.480C>T	CCDS909.1																																																																																				0.562	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		15	185	0	0	0	0.004007	0	15	185				
NBPF10	100132406	broad.mit.edu	37	1	145299852	145299852	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:145299852G>A	ENST00000369338.1	+	2	278	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.E301K			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	301						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAGCTGGCAGAGAAGAAACA	0.463																																							uc001end.3		NA																	0					0						c.(901-903)GAG>AAG		hypothetical protein LOC100132406							13.0	13.0	13.0					1																	145299852		690	1580	2270	SO:0001583	missense	100132406							g.chr1:145299852G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.88G>A	1.37:g.145299852G>A	ENSP00000358344:p.Glu30Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E301K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Intron	p.E301K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	936	+	all_hematologic(923;0.032)		301					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.901G>A		.	.	.	.	.	.	.	.	.	.	.	2.834	-0.242067	0.05906	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.02890	4.15;4.12	1.05	-1.76	0.08006	.	.	.	.	.	T	0.01189	0.0039	L	0.35723	1.085	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.44967	-0.9293	9	0.39692	T	0.17	.	4.0929	0.09978	0.5437:0.0:0.4563:0.0	.	30	Q86T75-2	.	K	226;30;30;301	ENSP00000358344:E30K;ENSP00000345684:E301K	ENSP00000345684:E301K	E	+	1	0	NBPF10	144011209	0.003000	0.15002	0.000000	0.03702	0.033000	0.12548	-0.235000	0.09016	-0.545000	0.06224	0.281000	0.19383	GAG		0.463	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		18	621	0	0	0	0.00361	0	18	621				
GJA8	2703	broad.mit.edu	37	1	147381061	147381061	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:147381061G>T	ENST00000369235.1	+	1	979	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	GJA8_ENST00000240986.4_Missense_Mutation_p.G327W			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	327					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGCTCAGGTGGGGGCACAAGA	0.622																																					Melanoma(76;1255 1795 8195 52096)	Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(979-981)GGG>TGG		connexin 50							24.0	25.0	25.0					1																	147381061		2202	4300	6502	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381061G>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.979G>T	1.37:g.147381061G>T	ENSP00000358238:p.Gly327Trp						p.G327W	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	1042	+	all_hematologic(923;0.0276)		327			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.979G>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	14.64	2.594372	0.46214	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97688	-4.49;-4.49	4.39	3.48	0.39840	.	1.695120	0.03631	N	0.237861	D	0.94135	0.8119	N	0.08118	0	0.33284	D	0.562708	D	0.58620	0.983	P	0.56127	0.792	D	0.87229	0.2259	10	0.87932	D	0	.	9.8095	0.40815	0.1732:0.0:0.8268:0.0	.	327	P48165	CXA8_HUMAN	W	327	ENSP00000240986:G327W;ENSP00000358238:G327W	ENSP00000240986:G327W	G	+	1	0	GJA8	145847685	1.000000	0.71417	0.915000	0.36163	0.859000	0.49053	3.610000	0.54125	1.061000	0.40601	0.561000	0.74099	GGG		0.622	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		8	13	1	0	0.00307968	0.00308	0.00318168	8	13				
NBPF20	100288142	broad.mit.edu	37	1	148344650	148344650	+	Missense_Mutation	SNP	C	C	T	rs370974831		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:148344650C>T	ENST00000369202.1	-	3	465	c.268G>A	c.(268-270)Gag>Aag	p.E90K	NBPF20_ENST00000414710.2_Missense_Mutation_p.E90K			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	90						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CTGAGCTCCTCAGCTTGCTTG	0.517																																							uc001eqf.2		NA																	0					0						c.(268-270)GAG>AAG		hypothetical protein LOC55672							147.0	156.0	153.0					1																	148344650		1821	3915	5736	SO:0001583	missense	200030					cytoplasm		g.chr1:148344650C>T		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.268G>A	1.37:g.148344650C>T	ENSP00000358203:p.Glu90Lys					LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Missense_Mutation_p.E90K|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Missense_Mutation_p.E90K|uc010paw.1_Intron	p.E90K	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN			2	303	-			90			Potential.			Missense_Mutation	SNP	ENST00000369202.1	37	c.268G>A		.	.	.	.	.	.	.	.	.	.	.	9.651	1.141640	0.21205	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04119	4.1;4.16;3.7	0.521	-1.04	0.10068	.	.	.	.	.	T	0.04092	0.0114	.	.	.	0.22521	N	0.99903	P;D;P	0.60160	0.88;0.987;0.458	P;P;B	0.62491	0.636;0.903;0.292	T	0.28364	-1.0046	6	0.30854	T	0.27	.	.	.	.	.	90;90;15	Q6P3W6;F5H1Q5;Q5VTG7	NBPFA_HUMAN;.;.	K	90	ENSP00000358203:E90K;ENSP00000358189:E90K;ENSP00000389520:E90K	ENSP00000358189:E90K	E	-	1	0	NBPF20	146711274	0.000000	0.05858	0.008000	0.14137	0.014000	0.08584	-1.401000	0.02502	-0.716000	0.04962	-1.109000	0.02080	GAG		0.517	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			99	563	0	0	0	0.00361	0	99	563				
SV2A	9900	broad.mit.edu	37	1	149878336	149878336	+	Missense_Mutation	SNP	G	G	T	rs149927876		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:149878336G>T	ENST00000369146.3	-	11	2241	c.1751C>A	c.(1750-1752)cCg>cAg	p.P584Q	SV2A_ENST00000369145.1_Missense_Mutation_p.P584Q	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	584					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CACGTCTAGCGGGCAGCCCTC	0.542																																							uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(1750-1752)CCG>CAG		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						135.0	115.0	122.0					1																	149878336		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149878336G>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1751C>A	1.37:g.149878336G>T	ENSP00000358142:p.Pro584Gln					SV2A_uc009wlk.2_Missense_Mutation_p.P36Q|SV2A_uc001eth.2_Missense_Mutation_p.P584Q	p.P584Q	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		11	2242	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		584			Extracellular (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.1751C>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	0.780	-0.762722	0.02996	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.67171	0.78;-0.25	5.14	3.17	0.36434	Major facilitator superfamily domain (1);	0.299903	0.33005	N	0.005386	T	0.13756	0.0333	N	0.00926	-1.1	0.26674	N	0.971678	B;B	0.09022	0.001;0.002	B;B	0.15052	0.012;0.005	T	0.33803	-0.9854	10	0.15499	T	0.54	-10.4441	10.8514	0.46771	0.0:0.0:0.4991:0.5009	.	36;584	B4E000;Q7L0J3	.;SV2A_HUMAN	Q	584	ENSP00000358142:P584Q;ENSP00000358141:P584Q	ENSP00000358141:P584Q	P	-	2	0	SV2A	148144960	1.000000	0.71417	0.616000	0.29078	0.758000	0.43043	3.660000	0.54496	0.670000	0.31165	0.491000	0.48974	CCG		0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			21	26	1	0	5.26018e-13	0.001882	6.76409e-13	21	26				
ECM1	1893	broad.mit.edu	37	1	150483557	150483557	+	Silent	SNP	G	G	A	rs587741954	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:150483557G>A	ENST00000369047.4	+	6	716	c.591G>A	c.(589-591)caG>caA	p.Q197Q	ECM1_ENST00000369049.4_Silent_p.Q224Q|ECM1_ENST00000346569.6_Silent_p.Q197Q|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	197	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACCTACCACAGTCCAGCTACT	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		19640	0.002		0.0	False		,,,				2504	0.0				Melanoma(156;1696 2560 11093 19685)	Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(589-591)CAG>CAA		extracellular matrix protein 1 isoform 1							143.0	146.0	145.0					1																	150483557		2203	4300	6503	SO:0001819	synonymous_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483557G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.591G>A	1.37:g.150483557G>A						ECM1_uc010pce.1_Silent_p.Q126Q|ECM1_uc010pcf.1_Silent_p.Q119Q|ECM1_uc001eut.2_Silent_p.Q197Q|ECM1_uc001euu.2_Silent_p.Q226Q|ECM1_uc001euv.2_Silent_p.Q224Q|ECM1_uc009wlu.2_5'UTR	p.Q197Q	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	790	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		197			2 X approximate repeats.|1.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	c.591G>A	CCDS953.1																																																																																				0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		88	102	0	0	0	0.00361	0	88	102				
HRNR	388697	broad.mit.edu	37	1	152191134	152191134	+	Missense_Mutation	SNP	G	G	C	rs373485996		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152191134G>C	ENST00000368801.2	-	3	3046	c.2971C>G	c.(2971-2973)Cgt>Ggt	p.R991G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	991					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGACTGACGGGAGCCAGAC	0.582																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2971-2973)CGT>GGT		hornerin							178.0	178.0	178.0					1																	152191134		2203	4297	6500	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191134G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2971C>G	1.37:g.152191134G>C	ENSP00000357791:p.Arg991Gly						p.R991G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3047	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		991			11.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2971C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	g	1.725	-0.495509	0.04291	.	.	ENSG00000197915	ENST00000368801	T	0.01838	4.61	3.71	-7.43	0.01383	.	.	.	.	.	T	0.00300	0.0009	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48703	-0.9012	9	0.09590	T	0.72	.	2.2613	0.04068	0.2856:0.3953:0.2013:0.1177	.	991	Q86YZ3	HORN_HUMAN	G	991	ENSP00000357791:R991G	ENSP00000357791:R991G	R	-	1	0	HRNR	150457758	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.595000	0.00211	-3.541000	0.00144	-1.962000	0.00476	CGT		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		111	153	0	0	0	0.00361	0	111	153				
HRNR	388697	broad.mit.edu	37	1	152191741	152191741	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152191741G>A	ENST00000368801.2	-	3	2439	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	788					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGCTGGAGGAGTGCCCTG	0.602																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2362-2364)TCC>TCT		hornerin							68.0	73.0	71.0					1																	152191741		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191741G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2364C>T	1.37:g.152191741G>A							p.S788S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2440	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		788			8.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2364C>T	CCDS30859.1																																																																																				0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		36	37	0	0	0	0.003755	0	36	37				
HRNR	388697	broad.mit.edu	37	1	152192435	152192435	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152192435C>A	ENST00000368801.2	-	3	1745	c.1670G>T	c.(1669-1671)aGc>aTc	p.S557I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	557					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCATAGCTGGAAGACTG	0.587																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(1669-1671)AGC>ATC		hornerin							148.0	158.0	154.0					1																	152192435		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192435C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1670G>T	1.37:g.152192435C>A	ENSP00000357791:p.Ser557Ile						p.S557I	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1746	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		557			5.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1670G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.444	0.266953	0.10294	.	.	ENSG00000197915	ENST00000368801	T	0.02916	4.11	3.92	1.99	0.26369	.	.	.	.	.	T	0.00580	0.0019	N	0.19112	0.55	0.09310	N	1	P	0.45902	0.868	B	0.37198	0.243	T	0.47873	-0.9083	9	0.30854	T	0.27	.	4.1562	0.10261	0.0:0.5902:0.1939:0.2159	.	557	Q86YZ3	HORN_HUMAN	I	557	ENSP00000357791:S557I	ENSP00000357791:S557I	S	-	2	0	HRNR	150459059	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.357000	0.20199	0.322000	0.23283	-0.265000	0.10407	AGC		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		83	134	1	0	3.76054e-38	0.00361	6.5699e-38	83	134				
FLG	2312	broad.mit.edu	37	1	152277418	152277418	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152277418T>G	ENST00000368799.1	-	3	9979	c.9944A>C	c.(9943-9945)cAc>cCc	p.H3315P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3315	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)			AATGCCTGAGTGTCTGGAGCT	0.557									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9943-9945)CAC>CCC		filaggrin							407.0	398.0	401.0					1																	152277418		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.chr1:152277418T>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9944A>C	1.37:g.152277418T>G	ENSP00000357789:p.His3315Pro						p.H3315P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9980	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3315			Filaggrin 20.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9944A>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266584	0.23136	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.10573	2.86	3.45	2.24	0.28232	.	.	.	.	.	T	0.12263	0.0298	L	0.59436	1.845	0.09310	N	1	D	0.69078	0.997	D	0.75020	0.985	T	0.08638	-1.0712	9	0.87932	D	0	.	5.8247	0.18546	0.0:0.1305:0.0:0.8695	.	3315	P20930	FILA_HUMAN	P	3315;253	ENSP00000357789:H3315P	ENSP00000357786:H253P	H	-	2	0	FLG	150544042	0.000000	0.05858	0.090000	0.20809	0.051000	0.14879	0.273000	0.18662	0.470000	0.27294	0.248000	0.18094	CAC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		197	364	0	0	0	0.00361	0	197	364				
FLG	2312	broad.mit.edu	37	1	152281867	152281867	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152281867G>C	ENST00000368799.1	-	3	5530	c.5495C>G	c.(5494-5496)tCg>tGg	p.S1832W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1832	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)			ACTATCTACCGATTGCTCATA	0.577									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5494-5496)TCG>TGG		filaggrin							363.0	354.0	357.0					1																	152281867		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.chr1:152281867G>C	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.5495C>G	1.37:g.152281867G>C	ENSP00000357789:p.Ser1832Trp						p.S1832W	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5531	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1832			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5495C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.456	0.854191	0.17106	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03860	3.78	3.46	1.5	0.22942	.	.	.	.	.	T	0.03011	0.0089	M	0.82323	2.585	0.09310	N	1	B	0.25390	0.125	B	0.26864	0.074	T	0.33343	-0.9872	9	0.87932	D	0	.	6.0631	0.19848	0.2523:0.0:0.7477:0.0	.	1832	P20930	FILA_HUMAN	W	1832;67	ENSP00000357789:S1832W	ENSP00000271820:S67W	S	-	2	0	FLG	150548491	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	0.260000	0.21731	0.586000	0.80456	TCG		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		173	259	0	0	0	0.00361	0	173	259				
FLG2	388698	broad.mit.edu	37	1	152323648	152323648	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152323648C>A	ENST00000388718.5	-	3	6686	c.6614G>T	c.(6613-6615)gGa>gTa	p.G2205V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2205					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2205V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGAGATCCGGCTTGGCT	0.507																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6613-6615)GGA>GTA		filaggrin family member 2							400.0	349.0	366.0					1																	152323648		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323648C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6614G>T	1.37:g.152323648C>A	ENSP00000373370:p.Gly2205Val					uc001ezv.2_Intron	p.G2205V	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6687	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2205					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6614G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005689	0.35415	.	.	ENSG00000143520	ENST00000388718	T	0.52983	0.64	4.0	0.865	0.19074	.	.	.	.	.	T	0.47911	0.1471	M	0.79926	2.475	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.23261	-1.0193	9	0.37606	T	0.19	-0.1979	4.2172	0.10540	0.0:0.5874:0.1907:0.2219	.	2205	Q5D862	FILA2_HUMAN	V	2205	ENSP00000373370:G2205V	ENSP00000373370:G2205V	G	-	2	0	FLG2	150590272	0.090000	0.21635	0.001000	0.08648	0.005000	0.04900	0.878000	0.28126	0.091000	0.17302	0.551000	0.68910	GGA		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		116	207	1	0	2.08041e-53	0.00361	3.821e-53	116	207				
FLG2	388698	broad.mit.edu	37	1	152328422	152328422	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152328422C>A	ENST00000388718.5	-	3	1912	c.1840G>T	c.(1840-1842)Ggt>Tgt	p.G614C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	614	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTGACCTGATCTAGAC	0.512																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(1840-1842)GGT>TGT		filaggrin family member 2							171.0	249.0	223.0					1																	152328422		2203	4297	6500	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328422C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1840G>T	1.37:g.152328422C>A	ENSP00000373370:p.Gly614Cys					uc001ezv.2_Intron	p.G614C	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1913	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		614			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1840G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.047	0.765052	0.15914	.	.	ENSG00000143520	ENST00000388718	T	0.21361	2.01	3.99	-3.0	0.05480	.	.	.	.	.	T	0.10337	0.0253	L	0.45698	1.435	0.09310	N	1	D	0.60160	0.987	P	0.51297	0.665	T	0.10497	-1.0627	9	0.48119	T	0.1	0.1984	6.3568	0.21406	0.0:0.403:0.3592:0.2378	.	614	Q5D862	FILA2_HUMAN	C	614	ENSP00000373370:G614C	ENSP00000373370:G614C	G	-	1	0	FLG2	150595046	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.086000	0.03386	-0.543000	0.06240	-1.896000	0.00531	GGT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		149	213	1	0	2.0701e-58	0.00361	3.82752e-58	149	213				
KPRP	448834	broad.mit.edu	37	1	152732973	152732973	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152732973C>G	ENST00000606109.1	+	1	937	c.909C>G	c.(907-909)ccC>ccG	p.P303P	KPRP_ENST00000368773.1_Silent_p.P303P			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	303	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGAACCCATATATAACA	0.597																																							uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(907-909)CCC>CCG		keratinocyte proline-rich protein							46.0	49.0	48.0					1																	152732973		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732973C>G	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.909C>G	1.37:g.152732973C>G							p.P303P	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	967	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		303			Pro-rich.			Silent	SNP	ENST00000606109.1	37	c.909C>G	CCDS30862.1																																																																																				0.597	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		15	46	0	0	0	0.010504	0	15	46				
KPRP	448834	broad.mit.edu	37	1	152733137	152733137	+	Missense_Mutation	SNP	G	G	C	rs150376386		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:152733137G>C	ENST00000606109.1	+	1	1101	c.1073G>C	c.(1072-1074)gGc>gCc	p.G358A	KPRP_ENST00000368773.1_Missense_Mutation_p.G358A			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	358	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGCTGTGGCCCGCAGCCC	0.647																																							uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(1072-1074)GGC>GCC		keratinocyte proline-rich protein							48.0	52.0	50.0					1																	152733137		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733137G>C	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1073G>C	1.37:g.152733137G>C	ENSP00000475216:p.Gly358Ala						p.G358A	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1131	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		358			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1073G>C	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.313742	0.01331	.	.	ENSG00000203786	ENST00000368773	T	0.10477	2.87	5.3	2.19	0.27852	.	0.447128	0.19129	N	0.121962	T	0.00906	0.0030	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48681	-0.9014	10	0.02654	T	1	-6.712	7.9365	0.29933	0.1584:0.4552:0.3865:0.0	.	358	Q5T749	KPRP_HUMAN	A	358	ENSP00000357762:G358A	ENSP00000357762:G358A	G	+	2	0	KPRP	150999761	0.000000	0.05858	0.915000	0.36163	0.527000	0.34593	-0.006000	0.12833	1.334000	0.45468	0.462000	0.41574	GGC		0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		27	36	0	0	0	0.004656	0	27	36				
SPRR2F	6705	broad.mit.edu	37	1	153085207	153085207	+	Start_Codon_SNP	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153085207C>G	ENST00000468739.1	-	2	63	c.3G>C	c.(1-3)atG>atC	p.M1I	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	1					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTGATAAGACATCCTGCTGG	0.542																																							uc001fbi.2		NA																	0					0						c.(1-3)ATG>ATC		small proline-rich protein 2F							54.0	51.0	52.0					1																	153085207		2202	4299	6501	SO:0001582	initiator_codon_variant	6705				keratinization	cornified envelope|cytoplasm		g.chr1:153085207C>G	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.3G>C	1.37:g.153085207C>G	ENSP00000418193:p.Met1Ile					SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.M1I	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	62	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		1					Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	37	c.3G>C	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488796	0.26686	.	.	ENSG00000244094	ENST00000468739	T	0.38077	1.16	3.74	3.74	0.42951	.	0.000000	0.42682	D	0.000676	T	0.16128	0.0388	.	.	.	0.58432	D	0.99999	P	0.42908	0.793	B	0.34590	0.186	T	0.09684	-1.0663	9	0.87932	D	0	.	11.2133	0.48813	0.0:1.0:0.0:0.0	.	1	Q96RM1	SPR2F_HUMAN	I	1	ENSP00000418193:M1I	ENSP00000418193:M1I	M	-	3	0	SPRR2F	151351831	1.000000	0.71417	0.989000	0.46669	0.865000	0.49528	3.263000	0.51546	2.081000	0.62600	0.313000	0.20887	ATG		0.542	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1		Missense_Mutation	33	51	0	0	0	0.003271	0	33	51				
SPRR2G	6706	broad.mit.edu	37	1	153122509	153122509	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153122509T>A	ENST00000368748.4	-	2	116	c.78A>T	c.(76-78)ccA>ccT	p.P26P		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	26	3 X 9 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGTGGACATGGCTCTGGGC	0.597																																							uc009wod.1		NA																	0					0						c.(76-78)CCA>CCT		small proline-rich protein 2G							140.0	108.0	119.0					1																	153122509		2203	4300	6503	SO:0001819	synonymous_variant	6706				keratinization	cornified envelope|cytoplasm		g.chr1:153122509T>A	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.78A>T	1.37:g.153122509T>A							p.P26P	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	199	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		26			1.|3 X 9 AA approximate tandem repeats.			Silent	SNP	ENST00000368748.4	37	c.78A>T	CCDS30868.1																																																																																				0.597	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			30	51	0	0	0	0.002836	0	30	51				
SPRR2G	6706	broad.mit.edu	37	1	153122550	153122550	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153122550G>T	ENST00000368748.4	-	2	75	c.37C>A	c.(37-39)Cag>Aag	p.Q13K		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	13					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGTGGCTGGCAGGGCTGC	0.562																																							uc009wod.1		NA																	0					0						c.(37-39)CAG>AAG		small proline-rich protein 2G							110.0	89.0	96.0					1																	153122550		2203	4300	6503	SO:0001583	missense	6706				keratinization	cornified envelope|cytoplasm		g.chr1:153122550G>T	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.37C>A	1.37:g.153122550G>T	ENSP00000357737:p.Gln13Lys						p.Q13K	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	158	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		13						Missense_Mutation	SNP	ENST00000368748.4	37	c.37C>A	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566218	0.27915	.	.	ENSG00000159516	ENST00000439437;ENST00000368748	T	0.38722	1.12	5.14	3.22	0.36961	.	0.258337	0.20535	N	0.090431	T	0.14570	0.0352	.	.	.	0.21861	N	0.9995	B	0.32829	0.386	B	0.31101	0.124	T	0.09292	-1.0681	9	0.87932	D	0	-5.5941	6.603	0.22710	0.0957:0.1817:0.7227:0.0	.	13	Q9BYE4	SPR2G_HUMAN	K	13	ENSP00000357737:Q13K	ENSP00000357737:Q13K	Q	-	1	0	SPRR2G	151389174	0.690000	0.27699	0.867000	0.34043	0.751000	0.42716	1.799000	0.38824	0.703000	0.31848	0.609000	0.83330	CAG		0.562	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			26	47	1	0	3.99451e-17	0.009535	5.57789e-17	26	47				
PGLYRP4	57115	broad.mit.edu	37	1	153309735	153309735	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153309735C>G	ENST00000359650.5	-	8	929	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.G285R	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	289					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACATTCCAGCCCACCCCTTCA	0.532																																							uc001fbo.2		NA																	0				ovary(3)|skin(1)	4						c.(865-867)GGC>CGC		peptidoglycan recognition protein-I-beta							82.0	66.0	71.0					1																	153309735		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153309735C>G	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.865G>C	1.37:g.153309735C>G	ENSP00000352672:p.Gly289Arg					PGLYRP4_uc001fbp.2_Missense_Mutation_p.G285R	p.G289R	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		8	930	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		289					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.865G>C	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718171	0.68844	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.22134	1.97;1.97	4.25	4.25	0.50352	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.097554	0.42682	D	0.000678	T	0.44030	0.1274	M	0.90814	3.15	0.45261	D	0.998261	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54125	-0.8340	10	0.87932	D	0	-40.8874	12.0631	0.53574	0.0:1.0:0.0:0.0	.	285;289	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	R	285;289	ENSP00000357728:G285R;ENSP00000352672:G289R	ENSP00000352672:G289R	G	-	1	0	PGLYRP4	151576359	0.986000	0.35501	0.997000	0.53966	0.923000	0.55619	3.668000	0.54554	2.177000	0.69029	0.650000	0.86243	GGC		0.532	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		11	25	0	0	0	0.008291	0	11	25				
CHTOP	26097	broad.mit.edu	37	1	153617542	153617542	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:153617542C>T	ENST00000368694.3	+	6	856	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	CHTOP_ENST00000403433.1_Missense_Mutation_p.R136W|CHTOP_ENST00000368687.1_Missense_Mutation_p.R157W|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368690.3_Missense_Mutation_p.R136W	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	182	Arg/Gly-rich.|Interaction with PRMT1. {ECO:0000250}.				mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						TGGGCCAGGTCGGGGTATGAT	0.542																																							uc001fcm.1		NA																	0					0						c.(544-546)CGG>TGG		small protein rich in arginine and glycine																																				SO:0001583	missense	26097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	g.chr1:153617542C>T		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.544C>T	1.37:g.153617542C>T	ENSP00000357683:p.Arg182Trp					C1orf77_uc001fcn.1_Missense_Mutation_p.R183W|C1orf77_uc001fco.1_Missense_Mutation_p.R157W|C1orf77_uc001fcp.2_RNA	p.R182W	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	856	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		182			Arg/Gly-rich.|Interaction with PRMT1.		D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP	ENST00000368694.3	37	c.544C>T	CCDS1048.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266874	0.59540	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687	D;D;D;D	0.92545	-2.38;-3.06;-3.06;-2.38	5.61	4.69	0.59074	.	0.053759	0.85682	D	0.000000	D	0.85869	0.5797	L	0.46157	1.445	0.58432	D	0.999998	D;D	0.62365	0.989;0.991	B;P	0.48488	0.443;0.579	D	0.85156	0.0989	10	0.37606	T	0.19	-17.5263	8.1718	0.31260	0.0:0.7574:0.1586:0.0841	.	183;182	Q9Y3Y2-3;Q9Y3Y2	.;CHTOP_HUMAN	W	182;136;136;157	ENSP00000357683:R182W;ENSP00000385228:R136W;ENSP00000357679:R136W;ENSP00000357676:R157W	ENSP00000357676:R157W	R	+	1	2	CHTOP	151884166	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.278000	0.51662	1.513000	0.48852	0.643000	0.83706	CGG		0.542	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607		19	30	0	0	0	0.008871	0	19	30				
PBXIP1	57326	broad.mit.edu	37	1	154920025	154920025	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:154920025C>A	ENST00000368463.3	-	9	810		c.e9-1		PBXIP1_ENST00000539880.1_Splice_Site|PBXIP1_ENST00000368465.1_Splice_Site|PBXIP1_ENST00000498553.1_Splice_Site|PBXIP1_ENST00000368460.3_Splice_Site|PBXIP1_ENST00000542459.1_Splice_Site	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTAGCCCATCCTGAGGGCAGA	0.602																																							uc001ffr.2		NA																	0				large_intestine(1)	1						c.e9-1		pre-B-cell leukemia homeobox interacting protein							75.0	79.0	77.0					1																	154920025		2203	4300	6503	SO:0001630	splice_region_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154920025C>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.739-1G>T	1.37:g.154920025C>A						PBXIP1_uc001ffs.2_Splice_Site_p.D218_splice|PBXIP1_uc010pep.1_Splice_Site_p.D92_splice	p.D247_splice	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		9	798	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)							Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Splice_Site	SNP	ENST00000368463.3	37	c.739_splice	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975462	0.74360	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459;ENST00000368460	.	.	.	4.73	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7179	0.57125	0.0:0.8329:0.1671:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBXIP1	153186649	1.000000	0.71417	0.793000	0.32043	0.790000	0.44656	4.283000	0.58977	0.950000	0.37743	0.313000	0.20887	.		0.602	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	Intron	32	50	1	0	2.85442e-18	0.002096	4.08015e-18	32	50				
ASH1L	55870	broad.mit.edu	37	1	155448036	155448036	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:155448036T>G	ENST00000368346.3	-	3	5264	c.4625A>C	c.(4624-4626)cAt>cCt	p.H1542P	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1542P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1542					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGAGAGATGAGGGCAGGA	0.458																																							uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(4624-4626)CAT>CCT		absent, small, or homeotic 1-like							156.0	151.0	152.0					1																	155448036		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448036T>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4625A>C	1.37:g.155448036T>G	ENSP00000357330:p.His1542Pro					ASH1L_uc001fkt.2_Missense_Mutation_p.H1542P|ASH1L_uc009wqr.1_Missense_Mutation_p.H1542P	p.H1542P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5105	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1542					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.4625A>C		.	.	.	.	.	.	.	.	.	.	T	18.67	3.674647	0.67928	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88741	-2.42;-2.42	5.44	5.44	0.79542	.	0.215784	0.40064	N	0.001198	D	0.86994	0.6067	N	0.14661	0.345	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	D	0.90425	0.4420	10	0.66056	D	0.02	.	15.3248	0.74150	0.0:0.0:0.0:1.0	.	1542;1542	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	P	1542	ENSP00000357330:H1542P;ENSP00000376204:H1542P	ENSP00000357330:H1542P	H	-	2	0	ASH1L	153714660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.997000	0.63921	2.285000	0.76669	0.533000	0.62120	CAT		0.458	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		34	59	0	0	0	0.005524	0	34	59				
SYT11	23208	broad.mit.edu	37	1	155838079	155838079	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:155838079G>T	ENST00000368324.4	+	2	611	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	120					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATCTTGTATAGACCAATTACC	0.537																																							uc001fmg.2		NA																	0				ovary(1)|skin(1)	2						c.(358-360)GAC>TAC		synaptotagmin XI							94.0	96.0	95.0					1																	155838079		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838079G>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.358G>T	1.37:g.155838079G>T	ENSP00000357307:p.Asp120Tyr					SYT11_uc010pgq.1_Intron	p.D120Y	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	621	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		120			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.358G>T	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373480	0.61624	.	.	ENSG00000132718	ENST00000368324	T	0.45276	0.9	5.14	5.14	0.70334	.	0.105228	0.64402	D	0.000004	T	0.27278	0.0669	L	0.40543	1.245	0.80722	D	1	P	0.44877	0.845	P	0.44732	0.459	T	0.09250	-1.0683	10	0.62326	D	0.03	.	11.0141	0.47679	0.0862:0.0:0.9138:0.0	.	120	Q9BT88	SYT11_HUMAN	Y	120	ENSP00000357307:D120Y	ENSP00000357307:D120Y	D	+	1	0	SYT11	154104703	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	4.529000	0.60588	2.671000	0.90904	0.655000	0.94253	GAC		0.537	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		44	66	1	0	5.20837e-25	0.00874	8.25655e-25	44	66				
SLC25A44	9673	broad.mit.edu	37	1	156169978	156169978	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:156169978G>T	ENST00000359511.4	+	2	512	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.V114L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	114					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CAAATCACTGGTGGCTGGTGG	0.527																																							uc001fnp.2		NA																	0				ovary(1)	1						c.(340-342)GTG>TTG		solute carrier family 25, member 44							77.0	70.0	72.0					1																	156169978		2203	4300	6503	SO:0001583	missense	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156169978G>T	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.340G>T	1.37:g.156169978G>T	ENSP00000352497:p.Val114Leu					SLC25A44_uc010phc.1_Intron|SLC25A44_uc009wrr.2_Missense_Mutation_p.V114L|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron	p.V114L	NM_014655	NP_055470	Q96H78	S2544_HUMAN			2	662	+	Hepatocellular(266;0.158)		114			Solcar 2.|Helical; Name=3; (Potential).		O75034	Missense_Mutation	SNP	ENST00000359511.4	37	c.340G>T	CCDS1133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.108851|3.108851	0.56398|0.56398	.|.	.|.	ENSG00000160785|ENSG00000160785	ENST00000412949|ENST00000359511;ENST00000423538	.|T;T	.|0.76448	.|-1.02;-0.99	5.9|5.9	4.93|4.93	0.64822|0.64822	.|Mitochondrial carrier domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.52386	.|0.1731	N|N	0.16790|0.16790	0.44|0.44	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.27910	.|0.101;0.1;0.193	.|B;B;B	.|0.38194	.|0.081;0.039;0.267	.|T	.|0.50890	.|-0.8774	.|10	.|0.09338	.|T	.|0.73	.|-3.3606	14.2543|14.2543	0.66040|0.66040	0.0:0.15:0.85:0.0|0.0:0.15:0.85:0.0	.|.	.|114;114;114	.|E9PGQ0;B4DGC4;Q96H78	.|.;.;S2544_HUMAN	.|L	-1|114	.|ENSP00000352497:V114L;ENSP00000407560:V114L	.|ENSP00000352497:V114L	.|V	+|+	.|1	.|0	SLC25A44|SLC25A44	154436602|154436602	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.682000|7.682000	0.84083|0.84083	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	.|GTG		0.527	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		24	24	1	0	2.44723e-14	0.004656	3.22188e-14	24	24				
SH2D2A	9047	broad.mit.edu	37	1	156779009	156779009	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:156779009C>A	ENST00000368199.3	-	7	1141	c.988G>T	c.(988-990)Gtc>Ttc	p.V330F	SH2D2A_ENST00000368198.3_Missense_Mutation_p.V312F|SH2D2A_ENST00000392306.2_Missense_Mutation_p.V340F	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	330	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCCTGGGACAGGCCTGGAC	0.587																																							uc001fqd.2		NA																	0					0						c.(988-990)GTC>TTC		SH2 domain protein 2A isoform 2							140.0	138.0	139.0					1																	156779009		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779009C>A	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.988G>T	1.37:g.156779009C>A	ENSP00000357182:p.Val330Phe					SH2D2A_uc001fqc.1_Missense_Mutation_p.V302F|SH2D2A_uc009wsh.2_Missense_Mutation_p.V340F|SH2D2A_uc001fqe.2_Missense_Mutation_p.V312F|SH2D2A_uc010phs.1_Missense_Mutation_p.V330F	p.V330F	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			7	1128	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		330			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.988G>T	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305172	0.23736	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.60299	0.24;0.2;0.67	3.57	0.524	0.17066	.	1.771600	0.03915	U	0.282635	T	0.23210	0.0561	N	0.24115	0.695	0.09310	N	1	B;B;B	0.20671	0.047;0.013;0.013	B;B;B	0.20955	0.032;0.007;0.007	T	0.31251	-0.9950	10	0.72032	D	0.01	-9.5231	6.6352	0.22879	0.0:0.6298:0.0:0.3702	.	340;312;330	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	F	330;312;340	ENSP00000357182:V330F;ENSP00000357181:V312F;ENSP00000376123:V340F	ENSP00000357181:V312F	V	-	1	0	SH2D2A	155045633	0.000000	0.05858	0.263000	0.24496	0.862000	0.49288	-0.500000	0.06405	0.293000	0.22520	-0.258000	0.10820	GTC		0.587	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		60	115	1	0	2.17656e-39	0.00361	3.84075e-39	60	115				
FCRL1	115350	broad.mit.edu	37	1	157772359	157772359	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:157772359C>A	ENST00000368176.3	-	4	482	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	FCRL1_ENST00000491942.1_Missense_Mutation_p.G139C|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.G139C	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	139	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTCCTGTGCCCATAGCAACT	0.542																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(415-417)GGC>TGC		Fc receptor-like 1 isoform 1 precursor							87.0	75.0	79.0					1																	157772359		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772359C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.415G>T	1.37:g.157772359C>A	ENSP00000357158:p.Gly139Cys					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.G139C|FCRL1_uc001fri.2_Missense_Mutation_p.G139C|FCRL1_uc001frj.2_Intron	p.G139C	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	528	-	all_hematologic(112;0.0378)		139			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.415G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180107	0.38511	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.17054	2.3;2.3;2.3	5.52	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.339320	0.25729	N	0.028697	T	0.40670	0.1126	H	0.95294	3.65	0.21220	N	0.999755	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.993	T	0.51957	-0.8639	10	0.87932	D	0	.	10.9975	0.47585	0.0:0.9124:0.0:0.0876	.	139;139;139	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	C	139	ENSP00000351039:G139C;ENSP00000357158:G139C;ENSP00000418130:G139C	ENSP00000351039:G139C	G	-	1	0	FCRL1	156038983	0.966000	0.33281	0.049000	0.19019	0.291000	0.27294	2.383000	0.44354	1.440000	0.47531	0.655000	0.94253	GGC		0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		18	26	1	0	2.48551e-13	0.00499	3.21321e-13	18	26				
FCRL1	115350	broad.mit.edu	37	1	157772447	157772447	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:157772447A>G	ENST00000368176.3	-	4	394	c.327T>C	c.(325-327)ccT>ccC	p.P109P	FCRL1_ENST00000491942.1_Silent_p.P109P|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Silent_p.P109P	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	109	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATCAGCGACAGGGACCCCTG	0.537																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(325-327)CCT>CCC		Fc receptor-like 1 isoform 1 precursor							35.0	34.0	34.0					1																	157772447		2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772447A>G	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.327T>C	1.37:g.157772447A>G						FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Silent_p.P109P|FCRL1_uc001fri.2_Silent_p.P109P|FCRL1_uc001frj.2_RNA	p.P109P	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	440	-	all_hematologic(112;0.0378)		109			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.327T>C	CCDS1170.1																																																																																				0.537	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		5	9	0	0	0	0.001168	0	5	9				
CD1C	911	broad.mit.edu	37	1	158261039	158261039	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158261039C>G	ENST00000368170.3	+	2	456	c.177C>G	c.(175-177)gaC>gaG	p.D59E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	59					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATGGCTGGGACAGTGAATCAG	0.478																																							uc001fru.2		NA																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(175-177)GAC>GAG		CD1C antigen precursor							115.0	101.0	106.0					1																	158261039		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261039C>G	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.177C>G	1.37:g.158261039C>G	ENSP00000357152:p.Asp59Glu					CD1C_uc001frv.2_5'Flank	p.D59E	NM_001765	NP_001756	P29017	CD1C_HUMAN			2	469	+	all_hematologic(112;0.0378)		59			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.177C>G	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	7.840	0.721686	0.15372	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.10288	2.89	3.08	-6.15	0.02105	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.815739	0.10022	N	0.725875	T	0.01387	0.0045	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43048	-0.9415	10	0.34782	T	0.22	.	3.8807	0.09077	0.2014:0.5023:0.1843:0.112	.	59	P29017	CD1C_HUMAN	E	59	ENSP00000357152:D59E	ENSP00000357151:D59E	D	+	3	2	CD1C	156527663	0.000000	0.05858	0.003000	0.11579	0.331000	0.28603	-5.374000	0.00127	-1.915000	0.01077	-0.140000	0.14226	GAC		0.478	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		20	37	0	0	0	0.008871	0	20	37				
CD1C	911	broad.mit.edu	37	1	158262139	158262139	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158262139G>T	ENST00000368170.3	+	3	873	c.594G>T	c.(592-594)atG>atT	p.M198I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	198					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.M198I(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGGGAAGATGTATGTACACA	0.453																																							uc001fru.2		NA																	2	Substitution - Missense(2)	p.M198I(1)	lung(1)|pancreas(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(592-594)ATG>ATT		CD1C antigen precursor							239.0	240.0	240.0					1																	158262139		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262139G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.594G>T	1.37:g.158262139G>T	ENSP00000357152:p.Met198Ile					CD1C_uc001frv.2_Missense_Mutation_p.M1I	p.M198I	NM_001765	NP_001756	P29017	CD1C_HUMAN			3	886	+	all_hematologic(112;0.0378)		198			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.594G>T	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.772|7.772	0.707583|0.707583	0.15239|0.15239	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192|ENST00000443761	T|.	0.06294|.	3.32|.	3.36|3.36	-0.751|-0.751	0.11076|0.11076	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.086350|.	0.07222|.	N|.	0.861005|.	T|T	0.19485|0.19485	0.0468|0.0468	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.003;0.002|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|5	0.87932|.	D|.	0|.	.|.	6.4064|6.4064	0.21666|0.21666	0.4694:0.0:0.5306:0.0|0.4694:0.0:0.5306:0.0	.|.	198;198|.	E9PGC9;P29017|.	.;CD1C_HUMAN|.	I|L	198;198;1|133	ENSP00000357152:M198I|.	ENSP00000357151:M198I|.	M|V	+|+	3|1	0|0	CD1C|CD1C	156528763|156528763	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-1.437000|-1.437000	0.02419|0.02419	-0.131000|-0.131000	0.11578|0.11578	-0.163000|-0.163000	0.13421|0.13421	ATG|GTA		0.453	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		85	154	1	0	6.31949e-53	0.00361	1.15957e-52	85	154				
CD1E	913	broad.mit.edu	37	1	158324271	158324272	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158324271_158324272GG>TT	ENST00000368167.3	+	2	402_403	c.163_164GG>TT	c.(163-165)GGc>TTc	p.G55F	CD1E_ENST00000368161.3_Missense_Mutation_p.G55F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G55F|CD1E_ENST00000368155.3_Missense_Mutation_p.G55F|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G55F|CD1E_ENST00000368165.3_Missense_Mutation_p.G55F|CD1E_ENST00000368156.1_Missense_Mutation_p.G55F|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G53F|CD1E_ENST00000444681.2_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	55					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACACAGTGAGGGCTCAGGATGG	0.569																																							uc001fse.2		NA																	0				skin(3)	3						c.(163-165)GGC>TTC		CD1E antigen isoform a precursor																																				SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324271_158324272GG>TT	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	Exception_encountered	1.37:g.158324271_158324272delinsTT	ENSP00000357149:p.Gly55Phe					CD1E_uc010pid.1_Missense_Mutation_p.G53F|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.G55F|CD1E_uc001fsk.2_Missense_Mutation_p.G55F|CD1E_uc001fsj.2_Missense_Mutation_p.G55F|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.G55F|CD1E_uc001fry.2_Missense_Mutation_p.G55F|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.G55F|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.G55F|CD1E_uc009wsw.2_5'Flank	p.G55F	NM_030893	NP_112155	P15812	CD1E_HUMAN			2	402_403	+	all_hematologic(112;0.0378)		55					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	DNP	ENST00000368167.3	37	c.163_164GG>TT	CCDS41417.1																																																																																				0.569	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		29	35	0	0	0	0.004672	0	29	35				
SPTA1	6708	broad.mit.edu	37	1	158609374	158609374	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158609374C>G	ENST00000368147.4	-	35	5158	c.4978G>C	c.(4978-4980)Gag>Cag	p.E1660Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1660					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACTTACCTCTCGAGCCAAC	0.483																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4978-4980)GAG>CAG		spectrin, alpha, erythrocytic 1							166.0	157.0	160.0					1																	158609374		1916	4131	6047	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158609374C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4978G>C	1.37:g.158609374C>G	ENSP00000357129:p.Glu1660Gln						p.E1660Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			35	5177	-	all_hematologic(112;0.0378)		1660			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4978G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353969	0.41700	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48522	0.81;0.81	5.35	-0.238	0.13055	.	0.566804	0.13340	N	0.395256	T	0.11965	0.0291	N	0.20845	0.615	0.36617	D	0.875556	B	0.13145	0.007	B	0.18871	0.023	T	0.12344	-1.0551	10	0.27082	T	0.32	.	6.175	0.20439	0.0:0.4792:0.2924:0.2284	.	1660	P02549	SPTA1_HUMAN	Q	1660	ENSP00000357130:E1660Q;ENSP00000357129:E1660Q	ENSP00000357129:E1660Q	E	-	1	0	SPTA1	156875998	0.981000	0.34729	0.992000	0.48379	0.960000	0.62799	0.473000	0.22132	-0.117000	0.11872	0.655000	0.94253	GAG		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		34	55	0	0	0	0.004289	0	34	55				
MNDA	4332	broad.mit.edu	37	1	158815556	158815556	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158815556A>T	ENST00000368141.4	+	5	1011	c.750A>T	c.(748-750)aaA>aaT	p.K250N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	250	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCATGTGAAAGTCTTCGACA	0.373																																							uc001fsz.1		NA																	0				ovary(2)|skin(2)	4						c.(748-750)AAA>AAT		myeloid cell nuclear differentiation antigen							88.0	89.0	89.0					1																	158815556		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815556A>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.750A>T	1.37:g.158815556A>T	ENSP00000357123:p.Lys250Asn						p.K250N	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	950	+	all_hematologic(112;0.0378)		250			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.750A>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945594	0.53079	.	.	ENSG00000163563	ENST00000368141	T	0.19806	2.12	4.28	-1.09	0.09904	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.40640	N	0.001053	T	0.25232	0.0613	M	0.83223	2.63	0.30433	N	0.776929	D	0.89917	1.0	D	0.97110	1.0	T	0.03221	-1.1059	10	0.87932	D	0	-14.7564	3.4744	0.07579	0.4194:0.0:0.4049:0.1758	.	250	P41218	MNDA_HUMAN	N	250	ENSP00000357123:K250N	ENSP00000357123:K250N	K	+	3	2	MNDA	157082180	0.996000	0.38824	0.753000	0.31225	0.049000	0.14656	-0.086000	0.11233	-0.314000	0.08716	-1.252000	0.01501	AAA		0.373	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		7	17	0	0	0	0.00308	0	7	17				
PYHIN1	149628	broad.mit.edu	37	1	158914788	158914788	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:158914788C>T	ENST00000368140.1	+	7	1560	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	PYHIN1_ENST00000392254.2_Missense_Mutation_p.P439S|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P430S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P430S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	439					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCTCAAGACTCCTCAGATGCC	0.493																																							uc001ftb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1315-1317)CCT>TCT		pyrin and HIN domain family, member 1 alpha 1							154.0	150.0	152.0					1																	158914788		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158914788C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1315C>T	1.37:g.158914788C>T	ENSP00000357122:p.Pro439Ser					PYHIN1_uc001ftc.2_Missense_Mutation_p.P430S|PYHIN1_uc001ftd.2_Missense_Mutation_p.P439S|PYHIN1_uc001fte.2_Missense_Mutation_p.P430S	p.P439S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			7	1560	+	all_hematologic(112;0.0378)		439					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1315C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748643	0.30955	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.09911	3.01;2.93;2.96;2.97	2.32	0.322	0.15888	.	.	.	.	.	T	0.02888	0.0086	L	0.32530	0.975	0.09310	N	0.999996	P;P;P;B	0.36086	0.536;0.536;0.536;0.401	B;B;B;B	0.39339	0.297;0.297;0.297;0.156	T	0.41378	-0.9512	9	0.72032	D	0.01	.	3.4264	0.07412	0.0:0.5616:0.2723:0.166	.	430;439;430;439	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	S	439;430;439;430	ENSP00000357122:P439S;ENSP00000357120:P430S;ENSP00000376083:P439S;ENSP00000376082:P430S	ENSP00000357120:P430S	P	+	1	0	PYHIN1	157181412	0.000000	0.05858	0.041000	0.18516	0.026000	0.11368	-0.794000	0.04584	0.082000	0.17018	-0.283000	0.09986	CCT		0.493	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		39	61	0	0	0	0.002522	0	39	61				
ACKR1	2532	broad.mit.edu	37	1	159175667	159175667	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:159175667G>T	ENST00000368122.2	+	2	1117	c.438G>T	c.(436-438)ctG>ctT	p.L146L	DARC_ENST00000368121.2_Silent_p.L148L|DARC_ENST00000537147.1_Silent_p.L146L|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		146					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGGCTTTGCTGCTAGGGTGCC	0.647																																							uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(436-438)CTG>CTT		Duffy blood group antigen isoform b							52.0	39.0	43.0					1																	159175667		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175667G>T																												ENST00000368122.2:c.438G>T	1.37:g.159175667G>T						DARC_uc001ftp.3_Silent_p.L148L	p.L146L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	678	+	all_hematologic(112;0.0429)		146			Helical; Name=3; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.438G>T	CCDS1183.1																																																																																				0.647	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			7	15	1	0	8.12818e-05	0.001984	8.70909e-05	7	15				
OR10J3	441911	broad.mit.edu	37	1	159283519	159283519	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:159283519C>A	ENST00000332217.5	-	1	930	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	311						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(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATTAAGGAGACAGAGTTTTTT	0.423																																							uc010piu.1		NA																	0				ovary(2)	2						c.(931-933)GTC>TTC		olfactory receptor, family 10, subfamily J,							69.0	67.0	68.0					1																	159283519		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283519C>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.931G>T	1.37:g.159283519C>A	ENSP00000331789:p.Val311Phe						p.V311F	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	931	-	all_hematologic(112;0.0429)		311			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.931G>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760358	0.31137	.	.	ENSG00000196266	ENST00000332217	T	0.00563	6.58	5.38	-5.51	0.02568	.	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12811	-1.0533	9	0.27785	T	0.31	.	5.4947	0.16795	0.2329:0.5249:0.1449:0.0973	.	311	Q5JRS4	O10J3_HUMAN	F	311	ENSP00000331789:V311F	ENSP00000331789:V311F	V	-	1	0	OR10J3	157550143	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.356000	0.02609	-0.804000	0.04410	-0.225000	0.12378	GTC		0.423	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			24	35	1	0	2.98393e-07	0.00278	3.40668e-07	24	35				
KCNJ9	3765	broad.mit.edu	37	1	160057416	160057416	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:160057416C>A	ENST00000368088.3	+	3	1233	c.991C>A	c.(991-993)Cct>Act	p.P331T		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	331					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGCCCACACCTTCGTGCAG	0.612																																							uc001fuy.1		NA																	0				ovary(1)|skin(1)	2						c.(991-993)CCT>ACT		potassium inwardly-rectifying channel subfamily							69.0	63.0	65.0					1																	160057416		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160057416C>A	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.991C>A	1.37:g.160057416C>A	ENSP00000357067:p.Pro331Thr						p.P331T	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	1233	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		331			Cytoplasmic (By similarity).		Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.991C>A	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.361407	0.82353	.	.	ENSG00000162728	ENST00000368088	D	0.95238	-3.65	4.21	4.21	0.49690	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.208186	0.41500	N	0.000866	D	0.97495	0.9180	H	0.95328	3.655	0.58432	D	0.999998	D	0.61697	0.99	P	0.60886	0.88	D	0.98657	1.0682	10	0.87932	D	0	.	15.358	0.74443	0.0:1.0:0.0:0.0	.	331	Q92806	IRK9_HUMAN	T	331	ENSP00000357067:P331T	ENSP00000357067:P331T	P	+	1	0	KCNJ9	158324040	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	5.959000	0.70339	1.909000	0.55274	0.550000	0.68814	CCT		0.612	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		24	47	1	0	4.4004e-07	0.00333	4.97101e-07	24	47				
FCGR2A	2212	broad.mit.edu	37	1	161479826	161479826	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:161479826C>A	ENST00000271450.6	+	4	619	c.581C>A	c.(580-582)aCg>aAg	p.T194K	FCGR2A_ENST00000367972.4_Missense_Mutation_p.T193K	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	194	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATAGGCTACACGCTGTTCTCA	0.517																																							uc001gan.2		NA																	0				ovary(1)	1						c.(580-582)ACG>AAG		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						115.0	98.0	104.0					1																	161479826		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479826C>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.581C>A	1.37:g.161479826C>A	ENSP00000271450:p.Thr194Lys					FCGR2A_uc001gam.2_Missense_Mutation_p.T193K|FCGR2A_uc001gao.2_RNA	p.T194K	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	634	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		194			Extracellular (Potential).|Ig-like C2-type 2.		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.581C>A	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	2.001	-0.429471	0.04701	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.09255	3.0;3.0	2.65	-3.41	0.04839	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	9.682070	0.00567	U	0.000299	T	0.01730	0.0055	N	0.25332	0.735	0.28769	N	0.900493	B;B	0.12013	0.001;0.005	B;B	0.08055	0.003;0.001	T	0.40608	-0.9554	9	0.20519	T	0.43	.	3.2711	0.06882	0.1908:0.2981:0.0:0.5112	.	194;193	P12318;P12318-2	FCG2A_HUMAN;.	K	193;194	ENSP00000356949:T193K;ENSP00000271450:T194K	ENSP00000271450:T194K	T	+	2	0	FCGR2A	159746450	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.342000	0.00130	-0.743000	0.04784	-0.300000	0.09419	ACG		0.517	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		25	39	1	0	2.98393e-07	0.00278	3.40668e-07	25	39				
SH2D1B	117157	broad.mit.edu	37	1	162381686	162381686	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:162381686A>G	ENST00000367929.2	-	1	230	c.121T>C	c.(121-123)Tgc>Cgc	p.C41R	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.C41R	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	41	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACACAGAGGCACAGGACTCCT	0.502																																							uc001gbz.1		NA																	0				pancreas(1)	1						c.(121-123)TGC>CGC		SH2 domain containing 1B							140.0	119.0	126.0					1																	162381686		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162381686A>G	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.121T>C	1.37:g.162381686A>G	ENSP00000356906:p.Cys41Arg					SH2D1B_uc001gca.1_Missense_Mutation_p.C41R	p.C41R	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	243	-	all_hematologic(112;0.115)		41			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.121T>C	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868857	0.72065	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.88354	-2.37;-2.37	5.26	5.26	0.73747	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.93841	0.8030	M	0.88105	2.93	0.29593	N	0.8482879999999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.994	D	0.95199	0.8315	9	0.87932	D	0	-28.5146	11.4896	0.50373	1.0:0.0:0.0:0.0	.	41;41	O14796-2;O14796	.;SH21B_HUMAN	R	41	ENSP00000356906:C41R;ENSP00000352571:C41R	ENSP00000352571:C41R	C	-	1	0	SH2D1B	160648310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.065000	0.57513	2.186000	0.69663	0.533000	0.62120	TGC		0.502	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		15	41	0	0	0	0.004007	0	15	41				
PBX1	5087	broad.mit.edu	37	1	164532548	164532548	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:164532548G>T	ENST00000420696.2	+	2	453	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	PBX1_ENST00000559240.1_Splice_Site_p.V89F|PBX1_ENST00000540236.1_Splice_Site_p.V89F|PBX1_ENST00000367897.1_Splice_Site_p.V89F|PBX1_ENST00000401534.1_Splice_Site_p.V89F	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	89		Breakpoint for translocation to form TCF3-PBX1 oncogene.			adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGAAAAAACAGGTAGGAATGA	0.313			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																		uc001gct.2		NA		Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	0				soft_tissue(3)|lung(1)|skin(1)	5						c.(265-267)GTT>TTT		pre-B-cell leukemia homeobox 1							103.0	110.0	107.0					1																	164532548		2203	4300	6503	SO:0001630	splice_region_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164532548G>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.265+1G>T	1.37:g.164532548G>T						PBX1_uc010pku.1_Missense_Mutation_p.V89F|PBX1_uc010pkv.1_Intron|PBX1_uc001gcs.2_Missense_Mutation_p.V89F	p.V89F	NM_002585	NP_002576	P40424	PBX1_HUMAN			2	523	+			89				Breakpoint for translocation to form CAA67062A-PBX1 oncogene.	B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.265G>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293348	0.40594	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	6.14	6.14	0.99180	PBX (1);	0.057726	0.64402	N	0.000002	T	0.30603	0.0770	M	0.72479	2.2	.	.	.	B;B;B	0.29341	0.171;0.122;0.242	B;B;B	0.32980	0.06;0.156;0.142	T	0.07520	-1.0768	9	0.56958	D	0.05	-2.1992	20.4548	0.99139	0.0:0.0:1.0:0.0	.	89;89;89	F5H4U9;P40424;Q53YC7	.;PBX1_HUMAN;.	F	89	ENSP00000341455:V89F;ENSP00000405890:V89F;ENSP00000356872:V89F;ENSP00000439943:V89F;ENSP00000384856:V89F	ENSP00000341455:V89F	V	+	1	0	PBX1	162799172	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.266000	0.95659	2.937000	0.99478	0.650000	0.86243	GTT		0.313	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585	Missense_Mutation	23	43	1	0	7.87624e-14	0.00278	1.02854e-13	23	43				
DUSP27	92235	broad.mit.edu	37	1	167095752	167095752	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167095752C>A	ENST00000361200.2	+	6	1550	c.1384C>A	c.(1384-1386)Cac>Aac	p.H462N	DUSP27_ENST00000271385.5_Missense_Mutation_p.H462N|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.H462N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	462					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCGCCCGGACCACGGCAGGAG	0.672																																							uc001geb.1		NA																	0				ovary(3)	3						c.(1384-1386)CAC>AAC		dual specificity phosphatase 27							17.0	18.0	18.0					1																	167095752		2201	4298	6499	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095752C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1384C>A	1.37:g.167095752C>A	ENSP00000354483:p.His462Asn						p.H462N	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1384	+			462					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1384C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	6.138	0.393652	0.11638	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02974	4.09;4.09;4.09	4.64	2.66	0.31614	.	0.828511	0.10135	N	0.711568	T	0.00754	0.0025	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49890	-0.8891	10	0.87932	D	0	0.285	12.2572	0.54631	0.6476:0.3524:0.0:0.0	.	462	Q5VZP5	DUS27_HUMAN	N	462	ENSP00000354483:H462N;ENSP00000271385:H462N;ENSP00000404874:H462N	ENSP00000271385:H462N	H	+	1	0	DUSP27	165362376	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.398000	0.20899	0.492000	0.27815	0.643000	0.83706	CAC		0.672	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		6	6	1	0	8.12818e-05	0.001984	8.70909e-05	6	6				
DUSP27	92235	broad.mit.edu	37	1	167096456	167096456	+	Silent	SNP	G	G	C	rs201239266		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167096456G>C	ENST00000361200.2	+	6	2254	c.2088G>C	c.(2086-2088)gcG>gcC	p.A696A	DUSP27_ENST00000271385.5_Silent_p.A696A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.A696A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	696					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCAACATAGCGGGGTGTTCAA	0.597																																							uc001geb.1		NA																	0				ovary(3)	3						c.(2086-2088)GCG>GCC		dual specificity phosphatase 27							57.0	62.0	60.0					1																	167096456		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096456G>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2088G>C	1.37:g.167096456G>C							p.A696A	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2088	+			696					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2088G>C	CCDS30932.1																																																																																				0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		13	23	0	0	0	0.001855	0	13	23				
DUSP27	92235	broad.mit.edu	37	1	167096930	167096930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167096930C>A	ENST00000361200.2	+	6	2728	c.2562C>A	c.(2560-2562)taC>taA	p.Y854*	DUSP27_ENST00000271385.5_Nonsense_Mutation_p.Y854*|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.Y854*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	854					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGTCTGAGTACAAAATGGAAA	0.498																																							uc001geb.1		NA																	0				ovary(3)	3						c.(2560-2562)TAC>TAA		dual specificity phosphatase 27							71.0	63.0	66.0					1																	167096930		2203	4300	6503	SO:0001587	stop_gained	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096930C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2562C>A	1.37:g.167096930C>A	ENSP00000354483:p.Tyr854*						p.Y854*	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2562	+			854					A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	c.2562C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	36	5.679014	0.96764	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.47	2.57	0.30868	.	0.088118	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3602	8.3836	0.32486	0.0:0.6145:0.0:0.3855	.	.	.	.	X	854	.	ENSP00000271385:Y854X	Y	+	3	2	DUSP27	165363554	0.938000	0.31826	0.988000	0.46212	0.160000	0.22226	0.028000	0.13644	0.641000	0.30601	0.551000	0.68910	TAC		0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		19	15	1	0	6.94344e-10	0.006122	8.39814e-10	19	15				
DUSP27	92235	broad.mit.edu	37	1	167097651	167097651	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167097651T>A	ENST00000361200.2	+	6	3449	c.3283T>A	c.(3283-3285)Tct>Act	p.S1095T	DUSP27_ENST00000271385.5_Missense_Mutation_p.S1095T|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.S1095T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1095					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTTTATGAGGTCTGAAGAAGA	0.517																																							uc001geb.1		NA																	0				ovary(3)	3						c.(3283-3285)TCT>ACT		dual specificity phosphatase 27							37.0	36.0	36.0					1																	167097651		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097651T>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3283T>A	1.37:g.167097651T>A	ENSP00000354483:p.Ser1095Thr						p.S1095T	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3283	+			1095					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3283T>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545318	0.65198	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03635	3.86;3.86;3.86	5.4	5.4	0.78164	.	0.152064	0.32093	N	0.006592	T	0.02012	0.0063	M	0.63428	1.95	0.29675	N	0.842155	P	0.42827	0.791	B	0.35114	0.196	T	0.29088	-1.0023	10	0.87932	D	0	-4.6542	9.877	0.41209	0.0:0.0762:0.0:0.9238	.	1095	Q5VZP5	DUS27_HUMAN	T	1095	ENSP00000354483:S1095T;ENSP00000271385:S1095T;ENSP00000404874:S1095T	ENSP00000271385:S1095T	S	+	1	0	DUSP27	165364275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.986000	0.40677	2.049000	0.60858	0.448000	0.29417	TCT		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		11	8	0	0	0	0.008291	0	11	8				
CD247	919	broad.mit.edu	37	1	167407857	167407857	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:167407857C>A	ENST00000362089.5	-	4	322	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.D84Y			P20963	CD3Z_HUMAN	CD247 molecule	84	ITAM 1. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	TCCAAAACATCGTACTCCTCT	0.552																																					Ovarian(192;1815 2869 36877 43334)	Ovarian(192;1815 2869 36877 43334)	uc001gei.3		NA																	0					0						c.(250-252)GAT>TAT		T-cell receptor zeta chain isoform 1 precursor							147.0	139.0	142.0					1																	167407857		2203	4300	6503	SO:0001583	missense	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167407857C>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.250G>T	1.37:g.167407857C>A	ENSP00000354782:p.Asp84Tyr					CD247_uc001gej.3_Missense_Mutation_p.D84Y|CD247_uc001gek.2_Missense_Mutation_p.D84Y	p.D84Y	NM_198053	NP_932170	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		4	395	-			84			Cytoplasmic (Potential).|ITAM 1.		B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	ENST00000362089.5	37	c.250G>T	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304517	0.60305	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	T;T	0.50001	0.76;0.76	4.52	4.52	0.55395	.	0.281885	0.21755	U	0.069611	T	0.56659	0.2000	L	0.59436	1.845	0.38910	D	0.957507	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.977;0.987	T	0.62253	-0.6893	9	0.72032	D	0.01	.	14.091	0.64990	0.0:1.0:0.0:0.0	.	84;84;84	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	Y	84	ENSP00000375969:D84Y;ENSP00000354782:D84Y	ENSP00000354782:D84Y	D	-	1	0	CD247	165674481	0.117000	0.22190	0.053000	0.19242	0.977000	0.68977	3.578000	0.53892	2.325000	0.78763	0.563000	0.77884	GAT		0.552	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		50	73	1	0	6.08268e-21	0.00361	9.1193e-21	50	73				
METTL18	92342	broad.mit.edu	37	1	169762469	169762469	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:169762469C>A	ENST00000310392.4	-	2	721	c.368G>T	c.(367-369)gGt>gTt	p.G123V	C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.G123V|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000456684.1_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	123						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						ATGCTGGAAACCTGGTAATGT	0.373																																							uc001ggn.2		NA																	0					0						c.(367-369)GGT>GTT		hypothetical protein MGC9084							66.0	67.0	67.0					1																	169762469		2203	4300	6503	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762469C>A	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.368G>T	1.37:g.169762469C>A	ENSP00000307975:p.Gly123Val					C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	p.G123V	NM_033418	NP_219486	O95568	MET18_HUMAN			2	646	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		123					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.368G>T	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	9.788	1.177097	0.21787	.	.	ENSG00000171806	ENST00000310392;ENST00000303469;ENST00000454472	T;T;T	0.46063	2.53;2.53;0.88	5.8	4.7	0.59300	.	0.257962	0.31760	N	0.007110	T	0.36413	0.0966	M	0.71581	2.175	0.54753	D	0.999986	P	0.51933	0.949	P	0.46585	0.521	T	0.10497	-1.0627	10	0.27785	T	0.31	2.8653	14.4928	0.67663	0.0:0.9159:0.0:0.0841	.	123	O95568	MET18_HUMAN	V	123	ENSP00000307975:G123V;ENSP00000307077:G123V;ENSP00000402305:G123V	ENSP00000307077:G123V	G	-	2	0	METTL18	168029093	0.243000	0.23878	0.955000	0.39395	0.370000	0.29829	0.363000	0.20301	2.742000	0.94016	0.655000	0.94253	GGT		0.373	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		20	26	1	0	5.03518e-11	0.007413	6.25436e-11	20	26				
C1orf105	92346	broad.mit.edu	37	1	172431345	172431345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:172431345G>T	ENST00000367727.4	+	5	499	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.D91Y	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	101										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GAAAATCCCAGATGATCCAAA	0.333																																							uc001gik.2		NA																	0				skin(1)	1						c.(301-303)GAT>TAT		hypothetical protein LOC92346							96.0	91.0	93.0					1																	172431345		2203	4300	6503	SO:0001583	missense	92346							g.chr1:172431345G>T	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.301G>T	1.37:g.172431345G>T	ENSP00000356700:p.Asp101Tyr						p.D101Y	NM_139240	NP_640333	O95561	CA105_HUMAN			5	497	+			101					Q8IY02	Missense_Mutation	SNP	ENST00000367727.4	37	c.301G>T	CCDS1301.1	.	.	.	.	.	.	.	.	.	.	G	8.669	0.902451	0.17760	.	.	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	T;T;T	0.37584	1.19;1.19;1.19	4.26	-0.946	0.10385	.	1.169550	0.06232	N	0.688833	T	0.13756	0.0333	N	0.24115	0.695	0.09310	N	1	P	0.48016	0.904	P	0.48571	0.582	T	0.12760	-1.0535	10	0.66056	D	0.02	0.2878	4.5314	0.12006	0.2799:0.336:0.3841:0.0	.	101	O95561	CA105_HUMAN	Y	101;72;91	ENSP00000356700:D101Y;ENSP00000431442:D72Y;ENSP00000356698:D91Y	ENSP00000356698:D91Y	D	+	1	0	C1orf105	170697968	0.071000	0.21146	0.005000	0.12908	0.040000	0.13550	0.024000	0.13555	-0.152000	0.11156	0.655000	0.94253	GAT		0.333	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		5	6	1	0	0.000602214	0.000602	0.000632636	5	6				
TNN	63923	broad.mit.edu	37	1	175046647	175046647	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175046647C>T	ENST00000239462.4	+	2	206	c.93C>T	c.(91-93)ccC>ccT	p.P31P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	31					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P31P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGAGCCTCCCGGCTGCAGCA	0.602																																							uc001gkl.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(91-93)CCC>CCT		tenascin N precursor							61.0	55.0	57.0					1																	175046647		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046647C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.93C>T	1.37:g.175046647C>T						TNN_uc010pmx.1_Silent_p.P31P	p.P31P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	206	+		Breast(1374;0.000962)	31					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.93C>T	CCDS30943.1																																																																																				0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		14	31	0	0	0	0.00499	0	14	31				
TNR	7143	broad.mit.edu	37	1	175335228	175335228	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175335228G>T	ENST00000367674.2	-	11	2808	c.2100C>A	c.(2098-2100)acC>acA	p.T700T	TNR_ENST00000263525.2_Silent_p.T700T			Q92752	TENR_HUMAN	tenascin R	700	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGAGATGGAGGTCTCCGAGG	0.532																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2098-2100)ACC>ACA		tenascin R precursor							123.0	101.0	109.0					1																	175335228		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175335228G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2100C>A	1.37:g.175335228G>T						TNR_uc009wwu.1_Silent_p.T700T	p.T700T	NM_003285	NP_003276	Q92752	TENR_HUMAN			9	2181	-	Renal(580;0.146)		700			Fibronectin type-III 5.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.2100C>A	CCDS1318.1																																																																																				0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		18	31	1	0	1.56452e-12	0.007413	1.99722e-12	18	31				
TNR	7143	broad.mit.edu	37	1	175360441	175360441	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175360441G>C	ENST00000367674.2	-	7	2198	c.1490C>G	c.(1489-1491)tCg>tGg	p.S497W	TNR_ENST00000263525.2_Missense_Mutation_p.S497W			Q92752	TENR_HUMAN	tenascin R	497	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GACGCTGGCCGAGGTAGGGGG	0.547																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1489-1491)TCG>TGG		tenascin R precursor							65.0	69.0	67.0					1																	175360441		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175360441G>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1490C>G	1.37:g.175360441G>C	ENSP00000356646:p.Ser497Trp					TNR_uc009wwu.1_Missense_Mutation_p.S497W	p.S497W	NM_003285	NP_003276	Q92752	TENR_HUMAN			5	1571	-	Renal(580;0.146)		497			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1490C>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279077	0.80692	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.55930	0.49;0.49	5.23	5.23	0.72850	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.144593	0.47093	D	0.000259	T	0.65852	0.2731	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	P	0.56916	0.809	T	0.69394	-0.5157	10	0.72032	D	0.01	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	497	Q92752	TENR_HUMAN	W	497	ENSP00000356646:S497W;ENSP00000263525:S497W	ENSP00000263525:S497W	S	-	2	0	TNR	173627064	1.000000	0.71417	0.989000	0.46669	0.702000	0.40608	9.333000	0.96459	2.429000	0.82318	0.655000	0.94253	TCG		0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		27	41	0	0	0	0.009535	0	27	41				
RFWD2	64326	broad.mit.edu	37	1	175957423	175957423	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:175957423C>A	ENST00000367669.3	-	17	2487		c.e17+1		RFWD2_ENST00000308769.8_Splice_Site	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTCACTTACCACAAGCTAT	0.368																																					Ovarian(134;1413 1765 5706 35534 51541)	Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NA																	0					0						c.e17+1		ring finger and WD repeat domain 2 isoform a							83.0	73.0	76.0					1																	175957423		2203	4300	6503	SO:0001630	splice_region_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:175957423C>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1972+1G>T	1.37:g.175957423C>A						RFWD2_uc001gkv.1_Splice_Site_p.G634_splice|RFWD2_uc001gkw.1_Splice_Site_p.G418_splice|RFWD2_uc009wwv.2_Splice_Site_p.G457_splice|RFWD2_uc001gkt.1_Splice_Site_p.G497_splice	p.G658_splice	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			17	2228	-								E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Splice_Site	SNP	ENST00000367669.3	37	c.1972_splice	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547154	0.86022	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8365	0.88699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFWD2	174224046	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.590000	0.82653	2.352000	0.79861	0.591000	0.81541	.		0.368	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457	Intron	8	12	1	0	0.00448238	0.004482	0.00462343	8	12				
PAPPA2	60676	broad.mit.edu	37	1	176563668	176563668	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176563668G>T	ENST00000367662.3	+	3	2092	c.928G>T	c.(928-930)Gat>Tat	p.D310Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D310Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	310					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						AGGTGTGTTTGATAACTGCTC	0.507																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(928-930)GAT>TAT		pappalysin 2 isoform 1							49.0	45.0	46.0					1																	176563668		1908	4125	6033	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563668G>T	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.928G>T	1.37:g.176563668G>T	ENSP00000356634:p.Asp310Tyr					PAPPA2_uc001gky.1_Missense_Mutation_p.D310Y|PAPPA2_uc009www.2_RNA	p.D310Y	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2092	+			310					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.928G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428397	0.83667	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.36699	4.49;1.24	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.109673	0.64402	D	0.000011	T	0.66577	0.2803	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.72001	-0.4422	10	0.87932	D	0	-19.0176	18.8948	0.92419	0.0:0.0:1.0:0.0	.	310;310	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Y	310	ENSP00000356634:D310Y;ENSP00000356633:D310Y	ENSP00000356633:D310Y	D	+	1	0	PAPPA2	174830291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.602000	0.74141	2.555000	0.86185	0.650000	0.86243	GAT		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			6	17	1	0	0.00116845	0.001168	0.00121886	6	17				
ASTN1	460	broad.mit.edu	37	1	176852122	176852122	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176852122G>A	ENST00000367654.3	-	20	3470	c.3259C>T	c.(3259-3261)Ctg>Ttg	p.L1087L	ASTN1_ENST00000367657.3_Silent_p.L1079L|ASTN1_ENST00000424564.2_Silent_p.L1079L|ASTN1_ENST00000361833.2_Silent_p.L1079L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1087	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACAAAGCTCAGCACTGTTTCT	0.483																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3235-3237)CTG>TTG		astrotactin isoform 1							125.0	114.0	118.0					1																	176852122		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176852122G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3259C>T	1.37:g.176852122G>A						ASTN1_uc001glb.1_Silent_p.L1079L|ASTN1_uc001gld.1_Silent_p.L1079L	p.L1079L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			20	3447	-			1087			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3235C>T																																																																																					0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		13	37	0	0	0	0.001368	0	13	37				
ASTN1	460	broad.mit.edu	37	1	176903322	176903322	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176903322C>G	ENST00000367654.3	-	16	2872	c.2661G>C	c.(2659-2661)cgG>cgC	p.R887R	ASTN1_ENST00000367657.3_Silent_p.R879R|ASTN1_ENST00000424564.2_Silent_p.R879R|ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000361833.2_Silent_p.R879R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	887					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCAGAGTCGCCGCTGGACCT	0.502																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2635-2637)CGG>CGC		astrotactin isoform 1							103.0	86.0	92.0					1																	176903322		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903322C>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2661G>C	1.37:g.176903322C>G						ASTN1_uc001glb.1_Silent_p.R879R|ASTN1_uc001gld.1_Silent_p.R879R	p.R879R	NM_004319	NP_004310	O14525	ASTN1_HUMAN			16	2849	-			887					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2637G>C																																																																																					0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		22	33	0	0	0	0.003954	0	22	33				
ASTN1	460	broad.mit.edu	37	1	176993767	176993767	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:176993767G>T	ENST00000367654.3	-	6	1433	c.1222C>A	c.(1222-1224)Ctc>Atc	p.L408I	ASTN1_ENST00000367657.3_Missense_Mutation_p.L408I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L408I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.L408I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	408					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGACAACGAGAGGGCAGTTG	0.537																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1222-1224)CTC>ATC		astrotactin isoform 1							148.0	119.0	129.0					1																	176993767		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993767G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1222C>A	1.37:g.176993767G>T	ENSP00000356626:p.Leu408Ile					ASTN1_uc001glb.1_Missense_Mutation_p.L408I|ASTN1_uc001gld.1_Missense_Mutation_p.L408I|ASTN1_uc009wwx.1_Missense_Mutation_p.L408I|ASTN1_uc001gle.3_RNA	p.L408I	NM_004319	NP_004310	O14525	ASTN1_HUMAN			6	1434	-			408					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1222C>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116930	0.77323	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.18810	2.19;2.6;2.6;2.19	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.27053	0.805	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.974;0.974	D;D;D	0.75484	0.986;0.969;0.969	T	0.05194	-1.0900	10	0.72032	D	0.01	-21.7349	11.4854	0.50350	0.0832:0.0:0.9168:0.0	.	408;408;408	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	I	408	ENSP00000356629:L408I;ENSP00000354536:L408I;ENSP00000356626:L408I;ENSP00000395041:L408I	ENSP00000354536:L408I	L	-	1	0	ASTN1	175260390	1.000000	0.71417	0.811000	0.32455	0.803000	0.45373	6.311000	0.72835	2.340000	0.79590	0.655000	0.94253	CTC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		19	22	1	0	1.67942e-08	0.006122	1.97446e-08	19	22				
NPHS2	7827	broad.mit.edu	37	1	179520525	179520525	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:179520525A>G	ENST00000367615.4	-	8	1003	c.935T>C	c.(934-936)cTg>cCg	p.L312P	NPHS2_ENST00000367616.4_Missense_Mutation_p.L244P|AXDND1_ENST00000367618.3_Intron|RP11-545A16.1_ENST00000569644.1_RNA	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	312					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGTGCCTGACAGAATCTCAGC	0.498																																							uc001gmq.3		NA																	0					0						c.(934-936)CTG>CCG		podocin							84.0	83.0	84.0					1																	179520525		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179520525A>G	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.935T>C	1.37:g.179520525A>G	ENSP00000356587:p.Leu312Pro					C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.L244P|C1orf125_uc001gmr.2_RNA	p.L312P	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			8	1020	-			312			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.935T>C	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662561	0.67700	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99637	-6.29;-6.29	5.7	5.7	0.88788	.	0.094151	0.45361	D	0.000368	D	0.99694	0.9884	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.97481	1.0047	10	0.87932	D	0	-11.8658	14.8005	0.69913	1.0:0.0:0.0:0.0	.	244;312	Q9NP85-2;Q9NP85	.;PODO_HUMAN	P	312;244	ENSP00000356587:L312P;ENSP00000356588:L244P	ENSP00000356587:L312P	L	-	2	0	NPHS2	177787148	0.999000	0.42202	0.956000	0.39512	0.588000	0.36517	7.537000	0.82033	2.172000	0.68678	0.533000	0.62120	CTG		0.498	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			29	32	0	0	0	0.00632	0	29	32				
CEP350	9857	broad.mit.edu	37	1	180034295	180034295	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:180034295C>T	ENST00000367607.3	+	27	5873	c.5455C>T	c.(5455-5457)Cct>Tct	p.P1819S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1819					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGCAACCAGTCCTGGTCCAAC	0.428																																							uc001gnt.2		NA																	0				ovary(4)	4						c.(5455-5457)CCT>TCT		centrosome-associated protein 350							69.0	67.0	68.0					1																	180034295		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180034295C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5455C>T	1.37:g.180034295C>T	ENSP00000356579:p.Pro1819Ser					CEP350_uc009wxl.2_Missense_Mutation_p.P1818S	p.P1819S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			27	5838	+			1819					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5455C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523871	0.85600	.	.	ENSG00000135837	ENST00000367607	T	0.46819	0.86	5.34	5.34	0.76211	.	0.000000	0.44097	D	0.000487	T	0.56337	0.1978	N	0.24115	0.695	0.42555	D	0.993123	D;P	0.89917	1.0;0.869	D;P	0.83275	0.996;0.589	T	0.54649	-0.8262	9	.	.	.	.	18.6505	0.91429	0.0:1.0:0.0:0.0	.	1819;1819	E7EU22;Q5VT06	.;CE350_HUMAN	S	1819	ENSP00000356579:P1819S	.	P	+	1	0	CEP350	178300918	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.297000	0.43593	2.494000	0.84150	0.557000	0.71058	CCT		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		5	17	0	0	0	0.000602	0	5	17				
CACNA1E	777	broad.mit.edu	37	1	181700366	181700366	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:181700366C>G	ENST00000367573.2	+	19	2296	c.2296C>G	c.(2296-2298)Ctg>Gtg	p.L766V	CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000357570.5_Splice_Site_p.L717V|CACNA1E_ENST00000367570.1_Splice_Site_p.L766V|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Splice_Site_p.L373V|CACNA1E_ENST00000360108.3_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	766					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCAGCCACCTGTATGTGTG	0.522																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2296-2298)CTG>GTG		calcium channel, voltage-dependent, R type,							173.0	194.0	187.0					1																	181700366		2184	4257	6441	SO:0001630	splice_region_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181700366C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2297+1C>G	1.37:g.181700366C>G						CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_5'Flank|CACNA1E_uc009wxt.2_5'Flank	p.L766V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			19	2461	+			766			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2296C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670011	0.29693	.	.	ENSG00000198216	ENST00000367570;ENST00000357570;ENST00000367567;ENST00000367573	D;D;D;D	0.96300	-3.88;-3.88;-3.97;-3.88	5.23	5.23	0.72850	.	3.411910	0.00769	N	0.001194	D	0.91988	0.7462	N	0.08118	0	0.34167	D	0.66931	B	0.02656	0.0	B	0.06405	0.002	T	0.71504	-0.4573	10	0.16420	T	0.52	.	14.0749	0.64885	0.0:0.849:0.1509:0.0	.	766	Q15878-3	.	V	766;717;373;766	ENSP00000356542:L766V;ENSP00000350183:L717V;ENSP00000356539:L373V;ENSP00000356545:L766V	ENSP00000350183:L717V	L	+	1	2	CACNA1E	179966989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.425000	0.66470	2.417000	0.82017	0.650000	0.86243	CTG		0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Missense_Mutation	9	10	0	0	0	0.001368	0	9	10				
CACNA1E	777	broad.mit.edu	37	1	181702613	181702613	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:181702613G>T	ENST00000367573.2	+	21	2989	c.2989G>T	c.(2989-2991)Gga>Tga	p.G997*	CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.G929*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.G948*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.G997*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.G978*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.G604*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.G978*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	997					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGGCTGGCAGGAGGCCTTGA	0.617																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2989-2991)GGA>TGA		calcium channel, voltage-dependent, R type,							49.0	56.0	54.0					1																	181702613		2089	4231	6320	SO:0001587	stop_gained	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702613G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2989G>T	1.37:g.181702613G>T	ENSP00000356545:p.Gly997*					CACNA1E_uc009wxs.2_Nonsense_Mutation_p.G885*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.G223*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.G223*	p.G997*	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			21	3154	+			997			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	ENST00000367573.2	37	c.2989G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	41	8.792053	0.98956	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	4.72	3.57	0.40892	.	0.787506	0.11978	N	0.511099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	8.7305	0.34496	0.1266:0.0:0.8734:0.0	.	.	.	.	X	997;978;948;929;604;978;997	.	ENSP00000350183:G948X	G	+	1	0	CACNA1E	179969236	0.854000	0.29725	0.871000	0.34182	0.223000	0.24884	2.311000	0.43717	2.154000	0.67381	0.462000	0.41574	GGA		0.617	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	27	1	0	0.000157383	0.00308	0.000167241	8	27				
ZNF648	127665	broad.mit.edu	37	1	182026788	182026788	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:182026788T>C	ENST00000339948.3	-	2	565	c.358A>G	c.(358-360)Agc>Ggc	p.S120G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGAGCTCTGCTTGCTCCCGGG	0.557																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	0				ovary(1)	1						c.(358-360)AGC>GGC		zinc finger protein 648							89.0	87.0	88.0					1																	182026788		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026788T>C	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.358A>G	1.37:g.182026788T>C	ENSP00000344129:p.Ser120Gly						p.S120G	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	566	-			120					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.358A>G	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	T	4.444	0.082137	0.08533	.	.	ENSG00000179930	ENST00000339948	T	0.07021	3.23	2.13	-0.538	0.11868	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46233	-0.9206	9	0.20046	T	0.44	.	2.4762	0.04576	0.0:0.2211:0.3194:0.4594	.	120	Q5T619	ZN648_HUMAN	G	120	ENSP00000344129:S120G	ENSP00000344129:S120G	S	-	1	0	ZNF648	180293411	0.424000	0.25490	0.001000	0.08648	0.017000	0.09413	0.903000	0.28475	-0.116000	0.11893	0.383000	0.25322	AGC		0.557	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		37	42	0	0	0	0.004878	0	37	42				
HMCN1	83872	broad.mit.edu	37	1	185815179	185815179	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:185815179C>A	ENST00000271588.4	+	2	519	c.290C>A	c.(289-291)aCc>aAc	p.T97N	HMCN1_ENST00000367492.2_Missense_Mutation_p.T97N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	97	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGACAATTACCACAGATCCC	0.363																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(289-291)ACC>AAC		hemicentin 1 precursor							107.0	105.0	106.0					1																	185815179		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185815179C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.290C>A	1.37:g.185815179C>A	ENSP00000271588:p.Thr97Asn						p.T97N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			2	519	+			97			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.290C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808276	0.90707	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.19394	2.15;2.15	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60424	-0.7266	10	0.87932	D	0	.	16.27	0.82612	0.0:1.0:0.0:0.0	.	97	Q96RW7	HMCN1_HUMAN	N	97	ENSP00000271588:T97N;ENSP00000356462:T97N	ENSP00000271588:T97N	T	+	2	0	HMCN1	184081802	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.252000	0.72447	2.562000	0.86427	0.563000	0.77884	ACC		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		21	16	1	0	1.50039e-11	0.001882	1.88181e-11	21	16				
HMCN1	83872	broad.mit.edu	37	1	185939626	185939626	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:185939626G>T	ENST00000271588.4	+	15	2600		c.e15+1		HMCN1_ENST00000367492.2_Splice_Site|HMCN1_ENST00000485744.1_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATGTTGGCTGTAAGCCTCCA	0.368																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.e15+1		hemicentin 1 precursor							109.0	109.0	109.0					1																	185939626		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185939626G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2371+1G>T	1.37:g.185939626G>T						HMCN1_uc001grr.1_Splice_Site_p.S132_splice	p.S791_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			15	2600	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.2371_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102230	0.76983	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.451	0.94867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184206249	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.463000	0.90377	2.593000	0.87608	0.655000	0.94253	.		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	91	59	1	0	1.13884e-41	0.00361	2.02438e-41	91	59				
HMCN1	83872	broad.mit.edu	37	1	186088942	186088942	+	Missense_Mutation	SNP	C	C	G	rs573793408		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186088942C>G	ENST00000271588.4	+	79	12251	c.12022C>G	c.(12022-12024)Cca>Gca	p.P4008A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4008A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4008	Ig-like C2-type 39.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATTTTATTACCATGTGAAGC	0.383																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(12022-12024)CCA>GCA		hemicentin 1 precursor							96.0	90.0	92.0					1																	186088942		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088942C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12022C>G	1.37:g.186088942C>G	ENSP00000271588:p.Pro4008Ala						p.P4008A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			79	12251	+			4008			Ig-like C2-type 39.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12022C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253911	0.80135	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65732	-0.17;-0.17	5.66	5.66	0.87406	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048736	0.85682	D	0.000000	T	0.71796	0.3382	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66666	-0.5866	10	0.30078	T	0.28	.	20.0973	0.97856	0.0:1.0:0.0:0.0	.	4008	Q96RW7	HMCN1_HUMAN	A	4008	ENSP00000271588:P4008A;ENSP00000356462:P4008A	ENSP00000271588:P4008A	P	+	1	0	HMCN1	184355565	1.000000	0.71417	0.828000	0.32881	0.655000	0.38815	7.758000	0.85224	2.830000	0.97506	0.585000	0.79938	CCA		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	44	0	0	0	0.00245	0	15	44				
HMCN1	83872	broad.mit.edu	37	1	186143709	186143709	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186143709G>T	ENST00000271588.4	+	103	16107	c.15878G>T	c.(15877-15879)aGa>aTa	p.R5293I	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5293I|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5293	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAATACAAGAGGCAGCTAT	0.418																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(15877-15879)AGA>ATA		hemicentin 1 precursor							176.0	147.0	157.0					1																	186143709		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186143709G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15878G>T	1.37:g.186143709G>T	ENSP00000271588:p.Arg5293Ile					HMCN1_uc001grs.1_Missense_Mutation_p.R862I	p.R5293I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			103	16107	+			5293			EGF-like 5; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15878G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171211	0.78452	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.91577	-2.87;-2.87;-2.19	5.7	5.7	0.88788	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.092549	0.64402	D	0.000001	D	0.84424	0.5469	N	0.00801	-1.175	0.58432	D	0.999999	D	0.71674	0.998	D	0.79784	0.993	D	0.87066	0.2156	10	0.54805	T	0.06	.	9.8874	0.41270	0.0713:0.0:0.7904:0.1383	.	5293	Q96RW7	HMCN1_HUMAN	I	5293;5293;85	ENSP00000271588:R5293I;ENSP00000356462:R5293I;ENSP00000406205:R85I	ENSP00000271588:R5293I	R	+	2	0	HMCN1	184410332	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	3.342000	0.52159	2.696000	0.92011	0.655000	0.94253	AGA		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	23	1	0	5.8336e-16	0.003271	7.97892e-16	34	23				
PLA2G4A	5321	broad.mit.edu	37	1	186901983	186901983	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186901983G>T	ENST00000367466.3	+	8	799	c.647G>T	c.(646-648)gGa>gTa	p.G216V	PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.G156V	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	216	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TACGAATCAGGAATTCTGGAT	0.418																																							uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(646-648)GGA>GTA		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						224.0	219.0	220.0					1																	186901983		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186901983G>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.647G>T	1.37:g.186901983G>T	ENSP00000356436:p.Gly216Val					PLA2G4A_uc010pos.1_Missense_Mutation_p.G156V	p.G216V	NM_024420	NP_077734	P47712	PA24A_HUMAN			8	852	+			216			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.647G>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798485	0.90538	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.51325	0.71;0.71	6.16	6.16	0.99307	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80701	-0.1265	10	0.87932	D	0	-25.7369	19.4236	0.94732	0.0:0.0:1.0:0.0	.	156;216	E7EU42;P47712	.;PA24A_HUMAN	V	216;156	ENSP00000356436:G216V;ENSP00000406892:G156V	ENSP00000356436:G216V	G	+	2	0	PLA2G4A	185168606	1.000000	0.71417	0.989000	0.46669	0.737000	0.42083	9.434000	0.97515	2.937000	0.99478	0.650000	0.86243	GGA		0.418	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		32	119	1	0	3.90053e-15	0.002445	5.24956e-15	32	119				
BRINP3	339479	broad.mit.edu	37	1	190068145	190068145	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:190068145C>A	ENST00000367462.3	-	8	1535	c.1304G>T	c.(1303-1305)tGc>tTc	p.C435F	BRINP3_ENST00000534846.1_Missense_Mutation_p.C333F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	435					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GAACGCGGTGCAGACCACCTG	0.602																																							uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1303-1305)TGC>TTC		family with sequence similarity 5, member C							57.0	45.0	49.0					1																	190068145		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068145C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1304G>T	1.37:g.190068145C>A	ENSP00000356432:p.Cys435Phe					FAM5C_uc010pot.1_Missense_Mutation_p.C333F	p.C435F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1536	-	Prostate(682;0.198)		435					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1304G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634347	0.67130	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.55588	0.51;0.51	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.979	T	0.74697	-0.3578	10	0.87932	D	0	.	17.2216	0.86959	0.0:1.0:0.0:0.0	.	333;435	B7Z260;Q76B58	.;FAM5C_HUMAN	F	435;333	ENSP00000356432:C435F;ENSP00000438022:C333F	ENSP00000356432:C435F	C	-	2	0	FAM5C	188334768	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.723000	0.84788	2.656000	0.90262	0.591000	0.81541	TGC		0.602	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		27	28	1	0	3.28513e-13	0.003954	4.2328e-13	27	28				
BRINP3	339479	broad.mit.edu	37	1	190129960	190129960	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:190129960A>G	ENST00000367462.3	-	7	1253	c.1022T>C	c.(1021-1023)aTa>aCa	p.I341T	BRINP3_ENST00000534846.1_Missense_Mutation_p.I239T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	341					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAAATGCATTATAGTAGATGT	0.323																																							uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1021-1023)ATA>ACA		family with sequence similarity 5, member C							108.0	117.0	114.0					1																	190129960		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190129960A>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1022T>C	1.37:g.190129960A>G	ENSP00000356432:p.Ile341Thr					FAM5C_uc010pot.1_Missense_Mutation_p.I239T	p.I341T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			7	1254	-	Prostate(682;0.198)		341					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1022T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676623	0.47886	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25912	2.03;1.77	5.75	5.75	0.90469	.	0.225063	0.41097	D	0.000941	T	0.29458	0.0734	L	0.60455	1.87	0.35591	D	0.807087	B;B	0.25609	0.13;0.041	B;B	0.26969	0.075;0.021	T	0.35475	-0.9787	10	0.87932	D	0	.	13.9985	0.64419	1.0:0.0:0.0:0.0	.	239;341	B7Z260;Q76B58	.;FAM5C_HUMAN	T	341;239	ENSP00000356432:I341T;ENSP00000438022:I239T	ENSP00000356432:I341T	I	-	2	0	FAM5C	188396583	1.000000	0.71417	0.009000	0.14445	0.996000	0.88848	8.859000	0.92264	2.194000	0.70268	0.467000	0.42956	ATA		0.323	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		14	93	0	0	0	0.006122	0	14	93				
RGS21	431704	broad.mit.edu	37	1	192335248	192335248	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:192335248T>G	ENST00000417209.2	+	5	627	c.453T>G	c.(451-453)ttT>ttG	p.F151L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	151					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GGCTCCCTTTTTTGTGAGGAA	0.328																																							uc001gsh.2		NA																	0				ovary(1)|skin(1)	2						c.(451-453)TTT>TTG		regulator of G-protein signaling 21							36.0	35.0	35.0					1																	192335248		1795	4061	5856	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192335248T>G	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.453T>G	1.37:g.192335248T>G	ENSP00000428343:p.Phe151Leu						p.F151L	NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN			5	627	+			151						Missense_Mutation	SNP	ENST00000417209.2	37	c.453T>G	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.780246	0.70222	.	.	ENSG00000253148	ENST00000417209	T	0.37752	1.18	5.53	0.241	0.15494	.	0.485143	0.14574	U	0.311290	T	0.47488	0.1448	M	0.75777	2.31	0.29371	N	0.864015	D	0.60575	0.988	P	0.54759	0.76	T	0.48258	-0.9051	10	0.87932	D	0	.	8.2052	0.31452	0.0:0.2873:0.0:0.7127	.	151	Q2M5E4	RGS21_HUMAN	L	151	ENSP00000428343:F151L	ENSP00000428343:F151L	F	+	3	2	RGS21	190601871	1.000000	0.71417	0.988000	0.46212	0.729000	0.41735	1.263000	0.33004	0.134000	0.18681	-0.326000	0.08463	TTT		0.328	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			27	20	0	0	0	0.003954	0	27	20				
KCNT2	343450	broad.mit.edu	37	1	196311306	196311306	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:196311306C>A	ENST00000294725.9	-	15	2371	c.1456G>T	c.(1456-1458)Ggg>Tgg	p.G486W	KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.G97W|KCNT2_ENST00000609185.1_Intron|KCNT2_ENST00000367433.5_Missense_Mutation_p.G486W			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	486	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTCATTCCCGGAGCATCTA	0.413																																							uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1456-1458)GGG>TGG		potassium channel, subfamily T, member 2							135.0	118.0	124.0					1																	196311306		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196311306C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1456G>T	1.37:g.196311306C>A	ENSP00000294725:p.Gly486Trp					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.G486W|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.G486W|KCNT2_uc001gth.1_Missense_Mutation_p.G7W	p.G486W	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			15	1516	-			486			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1456G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104087	0.94245	.	.	ENSG00000162687	ENST00000367433;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T	0.49720	0.77;0.77;0.77	5.87	5.87	0.94306	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.64402	D	0.000003	T	0.73745	0.3626	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.997;1.0	T	0.76189	-0.3050	10	0.87932	D	0	-15.3076	20.1991	0.98252	0.0:1.0:0.0:0.0	.	486;468;486;486	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3	.;.;.;KCNT2_HUMAN	W	486;307;97;486	ENSP00000356403:G486W;ENSP00000405474:G97W;ENSP00000294725:G486W	ENSP00000294725:G486W	G	-	1	0	KCNT2	194577929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.775000	0.95449	0.650000	0.86243	GGG		0.413	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		19	37	1	0	9.7654e-05	0.007413	0.000104575	19	37				
CFHR2	3080	broad.mit.edu	37	1	196928191	196928191	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:196928191C>A	ENST00000367415.5	+	5	894	c.794C>A	c.(793-795)cCc>cAc	p.P265H	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.P265H|CFHR2_ENST00000476712.2_Missense_Mutation_p.P249H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	265	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.P265H(1)		large_intestine(2)|ovary(1)|skin(3)	6						CTGGTATATCCCAGTTGTGAA	0.303																																							uc001gtq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(793-795)CCC>CAC		H factor (complement)-like 3 precursor							42.0	44.0	43.0					1																	196928191		2203	4296	6499	SO:0001583	missense	3080					extracellular region		g.chr1:196928191C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.794C>A	1.37:g.196928191C>A	ENSP00000356385:p.Pro265His					CFHR2_uc001gtr.1_Missense_Mutation_p.P141H	p.P265H	NM_005666	NP_005657	P36980	FHR2_HUMAN			5	871	+			265			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.794C>A	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.395984	0.42512	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	D;D	0.94497	-3.44;-3.44	3.52	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	D	0.97012	0.9024	M	0.85945	2.785	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.90701	0.4620	9	0.87932	D	0	.	10.4176	0.44331	0.0:1.0:0.0:0.0	.	238;265	P36980-2;P36980	.;FHR2_HUMAN	H	265	ENSP00000356391:P265H;ENSP00000356385:P265H	ENSP00000356385:P265H	P	+	2	0	CFHR2	195194814	0.892000	0.30473	0.045000	0.18777	0.014000	0.08584	1.956000	0.40382	1.782000	0.52362	0.543000	0.68304	CCC		0.303	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		7	31	1	0	0.00307968	0.00308	0.00318168	7	31				
ASPM	259266	broad.mit.edu	37	1	197073924	197073924	+	Missense_Mutation	SNP	T	T	C	rs368020945		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:197073924T>C	ENST00000367409.4	-	18	4713	c.4457A>G	c.(4456-4458)tAt>tGt	p.Y1486C	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1486					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCTAATATAAATATATTT	0.294																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(4456-4458)TAT>TGT		asp (abnormal spindle)-like, microcephaly		T	,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	51.0		,4457	5.4	0.3	1		51	1,8589	1.2+/-3.3	0,1,4294	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,194	0,2,6496	CC,CT,TT		0.0116,0.0227,0.0154	,probably-damaging	,1486/3478	197073924	2,12994	2203	4295	6498	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073924T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4457A>G	1.37:g.197073924T>C	ENSP00000356379:p.Tyr1486Cys					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.Y1486C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	4714	-			1486					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4457A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343986	0.41498	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.71934	-0.61	5.41	5.41	0.78517	.	0.333388	0.28977	N	0.013533	T	0.79021	0.4376	M	0.64997	1.995	0.33275	D	0.561552	D	0.69078	0.997	D	0.63192	0.912	D	0.84058	0.0373	10	0.44086	T	0.13	.	11.6966	0.51546	0.0:0.0717:0.0:0.9283	.	1486	Q8IZT6	ASPM_HUMAN	C	1486	ENSP00000356379:Y1486C	ENSP00000356379:Y1486C	Y	-	2	0	ASPM	195340547	0.002000	0.14202	0.322000	0.25334	0.946000	0.59487	0.908000	0.28545	2.183000	0.69458	0.477000	0.44152	TAT		0.294	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		30	15	0	0	0	0.008361	0	30	15				
ASPM	259266	broad.mit.edu	37	1	197091635	197091635	+	Missense_Mutation	SNP	T	T	A	rs199422156		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:197091635T>A	ENST00000367409.4	-	14	3737	c.3481A>T	c.(3481-3483)Ata>Tta	p.I1161L	ASPM_ENST00000367408.1_Missense_Mutation_p.I411L|ASPM_ENST00000294732.7_Missense_Mutation_p.I1161L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1161	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGCTGACATATAGCGTCAAAT	0.413																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(3481-3483)ATA>TTA		asp (abnormal spindle)-like, microcephaly							106.0	92.0	97.0					1																	197091635		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091635T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3481A>T	1.37:g.197091635T>A	ENSP00000356379:p.Ile1161Leu					ASPM_uc001gtv.2_Missense_Mutation_p.I1161L|ASPM_uc001gtw.3_Intron	p.I1161L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			14	3738	-			1161			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3481A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521111	0.44866	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.56275	0.47;0.47;0.47	5.96	4.83	0.62350	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (4);	0.071699	0.56097	D	0.000021	T	0.47875	0.1469	N	0.12471	0.22	0.23936	N	0.996413	D;D	0.59357	0.962;0.985	P;P	0.61070	0.726;0.883	T	0.35176	-0.9799	10	0.49607	T	0.09	.	7.9681	0.30111	0.0:0.2282:0.0:0.7718	.	1161;1161	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	L	1161;1161;411	ENSP00000356379:I1161L;ENSP00000294732:I1161L;ENSP00000356378:I411L	ENSP00000294732:I1161L	I	-	1	0	ASPM	195358258	0.992000	0.36948	0.142000	0.22268	0.637000	0.38172	1.797000	0.38804	1.087000	0.41251	0.477000	0.44152	ATA		0.413	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		11	13	0	0	0	0.008291	0	11	13				
CACNA1S	779	broad.mit.edu	37	1	201013584	201013584	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:201013584C>A	ENST00000362061.3	-	39	4895	c.4669G>T	c.(4669-4671)Gca>Tca	p.A1557S	CACNA1S_ENST00000367338.3_Splice_Site_p.A1538S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1557					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCAGCCCTGCCTGGGGATGA	0.577																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4669-4671)GCA>TCA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						59.0	56.0	57.0					1																	201013584		2203	4300	6503	SO:0001630	splice_region_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201013584C>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4669-1G>T	1.37:g.201013584C>A							p.A1557S	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			39	4896	-			1557			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4669G>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	18.92	3.724818	0.68959	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97505	-4.41;-4.37	4.89	4.89	0.63831	.	0.555420	0.18937	N	0.127057	D	0.98369	0.9458	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99497	1.0952	10	0.62326	D	0.03	.	18.0493	0.89343	0.0:1.0:0.0:0.0	.	1557	Q13698	CAC1S_HUMAN	S	1557;1538	ENSP00000355192:A1557S;ENSP00000356307:A1538S	ENSP00000355192:A1557S	A	-	1	0	CACNA1S	199280207	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	7.443000	0.80521	2.256000	0.74724	0.555000	0.69702	GCA		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Missense_Mutation	29	37	1	0	3.1745e-13	0.008361	4.09571e-13	29	37				
MYOG	4656	broad.mit.edu	37	1	203055013	203055013	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:203055013T>A	ENST00000241651.4	-	1	151	c.77A>T	c.(76-78)cAc>cTc	p.H26L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	26					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GCCCTGGAGGTGGACAGGCAG	0.627																																							uc001gzd.2		NA																	0				skin(2)	2						c.(76-78)CAC>CTC		myogenin							51.0	46.0	48.0					1																	203055013		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203055013T>A	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.77A>T	1.37:g.203055013T>A	ENSP00000241651:p.His26Leu						p.H26L	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	365	-			26					Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.77A>T	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	t	16.35	3.097444	0.56075	.	.	ENSG00000122180	ENST00000241651	T	0.76316	-1.01	5.68	3.41	0.39046	Myogenic basic muscle-specific protein (2);	0.167588	0.49916	D	0.000126	T	0.63426	0.2510	L	0.38175	1.15	0.32218	N	0.575599	B	0.25772	0.134	B	0.23018	0.043	T	0.65573	-0.6135	10	0.49607	T	0.09	.	5.0332	0.14421	0.0:0.3132:0.0:0.6868	.	26	P15173	MYOG_HUMAN	L	26	ENSP00000241651:H26L	ENSP00000241651:H26L	H	-	2	0	MYOG	201321636	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.738000	0.55067	2.164000	0.68074	0.456000	0.33151	CAC		0.627	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		27	48	0	0	0	0.004656	0	27	48				
ADORA1	134	broad.mit.edu	37	1	203134963	203134963	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:203134963C>A	ENST00000367236.4	+	3	1837	c.916C>A	c.(916-918)Cat>Aat	p.H306N	ADORA1_ENST00000309502.3_Missense_Mutation_p.H306N|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.H306N|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	306					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TTGGAATGACCATTTCCGCTG	0.572																																							uc001gze.1		NA																	0				large_intestine(1)	1						c.(916-918)CAT>AAT		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						151.0	113.0	126.0					1																	203134963		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134963C>A	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.916C>A	1.37:g.203134963C>A	ENSP00000356205:p.His306Asn					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.H306N|ADORA1_uc010pqg.1_Missense_Mutation_p.H238N|ADORA1_uc009xak.1_3'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.H339N	p.H306N	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	1349	+			306			Cytoplasmic (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.916C>A	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162191	0.38217	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.36699	1.24;1.24;1.24	5.37	3.49	0.39957	.	0.115962	0.64402	N	0.000011	T	0.19846	0.0477	L	0.36672	1.1	0.34518	D	0.707902	B;P;B	0.39391	0.246;0.671;0.114	B;B;B	0.29862	0.073;0.108;0.043	T	0.25502	-1.0130	10	0.33940	T	0.23	-30.5954	4.0184	0.09654	0.3631:0.4745:0.0:0.1624	.	339;238;306	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	N	306	ENSP00000308549:H306N;ENSP00000356205:H306N;ENSP00000338435:H306N	ENSP00000308549:H306N	H	+	1	0	ADORA1	201401586	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	3.966000	0.56795	0.630000	0.30394	-0.127000	0.14921	CAT		0.572	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		21	61	1	0	2.89027e-11	0.002299	3.60864e-11	21	61				
PRELP	5549	broad.mit.edu	37	1	203452734	203452734	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:203452734T>C	ENST00000343110.2	+	2	549	c.422T>C	c.(421-423)aTa>aCa	p.I141T		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	141					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCCGCAAGATAGACCAGAGG	0.567																																							uc001gzs.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(421-423)ATA>ACA		proline arginine-rich end leucine-rich repeat							89.0	88.0	89.0					1																	203452734		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452734T>C	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.422T>C	1.37:g.203452734T>C	ENSP00000343924:p.Ile141Thr					PRELP_uc001gzt.2_Missense_Mutation_p.I141T	p.I141T	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	622	+			141			LRR 3.		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.422T>C	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.887785	0.52014	.	.	ENSG00000188783	ENST00000343110	T	0.66099	-0.19	4.56	4.56	0.56223	.	0.698201	0.12849	N	0.434128	T	0.66197	0.2765	M	0.71871	2.18	0.32874	D	0.50963	B	0.26775	0.159	B	0.34536	0.185	T	0.73701	-0.3900	10	0.72032	D	0.01	-9.7281	12.755	0.57331	0.0:0.0:0.0:1.0	.	141	P51888	PRELP_HUMAN	T	141	ENSP00000343924:I141T	ENSP00000343924:I141T	I	+	2	0	PRELP	201719357	1.000000	0.71417	0.797000	0.32132	0.965000	0.64279	4.311000	0.59147	1.696000	0.51158	0.379000	0.24179	ATA		0.567	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		38	76	0	0	0	0.00623	0	38	76				
REN	5972	broad.mit.edu	37	1	204128682	204128682	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:204128682C>G	ENST00000272190.8	-	5	562	c.534G>C	c.(532-534)acG>acC	p.T178T	REN_ENST00000367195.2_Silent_p.T178T	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	178					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CGGGCATCTCCGTGACCTCTC	0.577																																							uc001haq.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(532-534)ACG>ACC		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						128.0	110.0	116.0					1																	204128682		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204128682C>G	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.534G>C	1.37:g.204128682C>G							p.T178T	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	578	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		178					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.534G>C	CCDS30981.1																																																																																				0.577	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		15	34	0	0	0	0.004007	0	15	34				
PIK3C2B	5287	broad.mit.edu	37	1	204402453	204402453	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:204402453T>C	ENST00000367187.3	-	27	4500	c.3944A>G	c.(3943-3945)tAc>tGc	p.Y1315C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Y1287C|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1315	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCTAGTGAAGTAGGTAGTGGC	0.537																																							uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(3943-3945)TAC>TGC		phosphoinositide-3-kinase, class 2 beta							119.0	105.0	110.0					1																	204402453		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204402453T>C	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3944A>G	1.37:g.204402453T>C	ENSP00000356155:p.Tyr1315Cys					PIK3C2B_uc010pqv.1_Missense_Mutation_p.Y1287C	p.Y1315C	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		27	4423	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1315			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3944A>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593283	0.66219	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	D;D	0.81908	-1.55;-1.55	5.89	3.47	0.39725	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.226237	0.38492	N	0.001677	D	0.89361	0.6693	M	0.84433	2.695	0.35467	D	0.79702	D;D	0.67145	0.996;0.994	P;P	0.61328	0.887;0.819	D	0.90483	0.4461	10	0.42905	T	0.14	.	10.6765	0.45789	0.2731:0.0:0.0:0.7269	.	1287;1315	F5GWN5;O00750	.;P3C2B_HUMAN	C	1315;93;1287	ENSP00000356155:Y1315C;ENSP00000400561:Y1287C	ENSP00000356155:Y1315C	Y	-	2	0	PIK3C2B	202669076	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.872000	0.28037	0.416000	0.25844	0.533000	0.62120	TAC		0.537	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		34	23	0	0	0	0.002836	0	34	23				
CD34	947	broad.mit.edu	37	1	208084384	208084384	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:208084384C>T	ENST00000310833.7	-	1	363	c.42G>A	c.(40-42)ccG>ccA	p.P14P	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000356522.4_Silent_p.P14P	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	14					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TCCAGCCCCGCGGCATCCTGG	0.711																																							uc001hgw.1		NA																	0				ovary(1)	1						c.(40-42)CCG>CCA		CD34 antigen isoform a							6.0	8.0	8.0					1																	208084384		2108	4139	6247	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208084384C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.42G>A	1.37:g.208084384C>T						CD34_uc001hgx.1_Silent_p.P14P|CD34_uc010psj.1_5'UTR	p.P14P	NM_001025109	NP_001020280	P28906	CD34_HUMAN			1	300	-			14					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.42G>A	CCDS31011.1																																																																																				0.711	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		7	18	0	0	0	0.00308	0	7	18				
MIR205HG	642587	broad.mit.edu	37	1	209605662	209605662	+	lincRNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:209605662G>A	ENST00000384891.1	+	0	220					NR_029622.1				MIR205 host gene (non-protein coding)																		agcagcagcagcagcagcagc	0.572																																							uc009xcn.2		NA																	0					0						c.(277-279)GCA>ACA		hypothetical protein LOC642587							7.0	8.0	7.0					1																	209605662		1271	2257	3528			642587							g.chr1:209605662G>A			1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605662G>A							p.A93T	NM_001104548	NP_001098018				OV - Ovarian serous cystadenocarcinoma(81;0.0422)	4	660	+									Missense_Mutation	SNP	ENST00000384891.1	37	c.277G>A																																																																																					0.572	MIR205HG-202	KNOWN	basic	miRNA	lincRNA				3	12	0	0	0	0.004672	0	3	12				
LAMB3	3914	broad.mit.edu	37	1	209803114	209803114	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:209803114C>T	ENST00000356082.4	-	10	1234	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R367H|LAMB3_ENST00000391911.1_Missense_Mutation_p.R367H	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	367	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R367H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCTCCCGGGCGCCGGTTCCG	0.572																																							uc001hhg.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(1099-1101)CGC>CAC		laminin, beta 3 precursor							72.0	76.0	75.0					1																	209803114		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209803114C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1100G>A	1.37:g.209803114C>T	ENSP00000348384:p.Arg367His					LAMB3_uc009xco.2_Missense_Mutation_p.R367H|LAMB3_uc001hhh.2_Missense_Mutation_p.R367H|LAMB3_uc010psl.1_RNA	p.R367H	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	9	1490	-			367			Laminin EGF-like 2.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1100G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557826	0.65425	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61980	0.06;0.06;0.06	5.26	4.35	0.52113	EGF-like, laminin (4);	0.106561	0.64402	D	0.000003	T	0.79246	0.4413	M	0.82716	2.605	0.35750	D	0.819371	D	0.89917	1.0	D	0.77557	0.99	D	0.85312	0.1079	10	0.49607	T	0.09	.	13.5171	0.61547	0.0:0.9235:0.0:0.0765	.	367	Q13751	LAMB3_HUMAN	H	367	ENSP00000375778:R367H;ENSP00000348384:R367H;ENSP00000355997:R367H	ENSP00000348384:R367H	R	-	2	0	LAMB3	207869737	0.891000	0.30450	0.936000	0.37596	0.560000	0.35617	1.624000	0.37018	1.237000	0.43756	-0.268000	0.10319	CGC		0.572	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		15	61	0	0	0	0.00245	0	15	61				
HSD11B1	3290	broad.mit.edu	37	1	209879219	209879219	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:209879219C>G	ENST00000367028.2	+	3	321	c.152C>G	c.(151-153)gCt>gGt	p.A51G	HSD11B1_ENST00000367027.3_Missense_Mutation_p.A51G|HSD11B1_ENST00000261465.1_Missense_Mutation_p.A51G|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	51					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AGAGAGATGGCTTATCATCTG	0.512																																							uc001hhj.2		NA																	0				breast(1)	1						c.(151-153)GCT>GGT		11-beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)						147.0	138.0	141.0					1																	209879219		2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding	g.chr1:209879219C>G	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.152C>G	1.37:g.209879219C>G	ENSP00000355995:p.Ala51Gly					HSD11B1_uc001hhk.2_Missense_Mutation_p.A51G	p.A51G	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	3	259	+			51			Lumenal (Potential).|NADP.		B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.152C>G	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152506	0.57259	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	T;T;T	0.70282	-0.47;-0.47;-0.47	3.95	3.95	0.45737	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	M	0.93507	3.425	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.91773	0.5429	10	0.87932	D	0	.	16.8669	0.86032	0.0:1.0:0.0:0.0	.	51	P28845	DHI1_HUMAN	G	51	ENSP00000355995:A51G;ENSP00000261465:A51G;ENSP00000355994:A51G	ENSP00000261465:A51G	A	+	2	0	HSD11B1	207945842	1.000000	0.71417	0.936000	0.37596	0.252000	0.25951	5.717000	0.68446	2.151000	0.67156	0.442000	0.29010	GCT		0.512	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		55	40	0	0	0	0.00361	0	55	40				
KCNH1	3756	broad.mit.edu	37	1	211280628	211280628	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:211280628C>A	ENST00000271751.4	-	2	198	c.171G>T	c.(169-171)agG>agT	p.R57S	KCNH1_ENST00000367007.4_Missense_Mutation_p.R57S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	57	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCACTTCTGCCCTGTGATAGC	0.388																																							uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(169-171)AGG>AGT		potassium voltage-gated channel, subfamily H,							136.0	138.0	137.0					1																	211280628		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211280628C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.171G>T	1.37:g.211280628C>A	ENSP00000271751:p.Arg57Ser					KCNH1_uc001hic.2_Missense_Mutation_p.R57S	p.R57S	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	2	341	-			57			Cytoplasmic (Potential).|PAS.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.171G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505849	0.64410	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99607	-6.27;-6.27	5.62	3.73	0.42828	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99211	0.9726	L	0.58428	1.81	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	D	0.99232	1.0882	10	0.59425	D	0.04	.	6.1252	0.20176	0.0:0.671:0.0:0.329	.	57;57	Q14CL3;O95259	.;KCNH1_HUMAN	S	57	ENSP00000271751:R57S;ENSP00000355974:R57S	ENSP00000271751:R57S	R	-	3	2	KCNH1	209347251	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.346000	0.19997	1.337000	0.45525	0.655000	0.94253	AGG		0.388	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		33	78	1	0	4.2108e-06	0.009535	4.6562e-06	33	78				
TRAF5	7188	broad.mit.edu	37	1	211526639	211526639	+	Missense_Mutation	SNP	G	G	T	rs148579195	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:211526639G>T	ENST00000261464.5	+	2	112	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.G20C|TRAF5_ENST00000336184.2_Missense_Mutation_p.G20C|TRAF5_ENST00000427925.2_Missense_Mutation_p.G20C	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	20					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CCAGAATTCCGGCAACTCCAT	0.493											OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hih.2		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(58-60)GGC>TGC		TNF receptor-associated factor 5							132.0	130.0	131.0					1																	211526639		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211526639G>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.58G>T	1.37:g.211526639G>T	ENSP00000261464:p.Gly20Cys		OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2198	TRAF5_uc001hii.2_Missense_Mutation_p.G20C|TRAF5_uc010psx.1_Missense_Mutation_p.G20C|TRAF5_uc010psy.1_Missense_Mutation_p.G20C|TRAF5_uc001hij.2_Missense_Mutation_p.G20C	p.G20C	NM_004619	NP_004610	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	2	118	+			20					B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.58G>T	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978601	0.53720	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.36878	2.08;1.23;2.08;2.08	4.85	-4.69	0.03299	.	0.896444	0.09603	N	0.780039	T	0.24547	0.0595	N	0.14661	0.345	0.09310	N	1	P;D;P	0.57899	0.91;0.981;0.938	P;P;P	0.48368	0.575;0.466;0.466	T	0.34403	-0.9830	10	0.62326	D	0.03	-11.4094	10.0905	0.42445	0.6656:0.0:0.2376:0.0967	.	20;20;20	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	C	20	ENSP00000336825:G20C;ENSP00000389891:G20C;ENSP00000261464:G20C;ENSP00000355971:G20C	ENSP00000261464:G20C	G	+	1	0	TRAF5	209593262	0.009000	0.17119	0.396000	0.26296	0.988000	0.76386	-0.070000	0.11523	-0.796000	0.04456	0.655000	0.94253	GGC		0.493	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		78	87	1	0	1.92282e-43	0.00361	3.44009e-43	78	87				
KCNK2	3776	broad.mit.edu	37	1	215408333	215408333	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:215408333G>C	ENST00000444842.2	+	7	1276	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	KCNK2_ENST00000391895.2_Missense_Mutation_p.E372Q|KCNK2_ENST00000391894.2_Missense_Mutation_p.E361Q	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	376	Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CCACAATCAGGAGCTGACTCC	0.537																																							uc001hkq.2		NA																	0					0						c.(1126-1128)GAG>CAG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						73.0	72.0	72.0					1																	215408333		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408333G>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1126G>C	1.37:g.215408333G>C	ENSP00000394033:p.Glu376Gln					KCNK2_uc001hko.2_Missense_Mutation_p.E372Q|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.E361Q	p.E376Q	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1295	+			376			Cytoplasmic (Potential).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1126G>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113239	0.56398	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.21734	1.99;2.0;1.99	5.72	5.72	0.89469	.	0.220595	0.46145	D	0.000310	T	0.16300	0.0392	N	0.14661	0.345	0.54753	D	0.999988	B;B;B	0.11235	0.001;0.003;0.004	B;B;B	0.18871	0.023;0.017;0.023	T	0.07558	-1.0766	10	0.30078	T	0.28	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	361;376;372	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	Q	372;361;376	ENSP00000375765:E372Q;ENSP00000375764:E361Q;ENSP00000394033:E376Q	ENSP00000375764:E361Q	E	+	1	0	KCNK2	213474956	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.708000	0.92522	0.561000	0.74099	GAG		0.537	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		13	7	0	0	0	0.001368	0	13	7				
USH2A	7399	broad.mit.edu	37	1	216219883	216219883	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:216219883A>T	ENST00000307340.3	-	32	6601	c.6215T>A	c.(6214-6216)cTg>cAg	p.L2072Q	USH2A_ENST00000366943.2_Missense_Mutation_p.L2072Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2072	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAGGAGAGCAGCAAAGAACT	0.423										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6214-6216)CTG>CAG		usherin isoform B							97.0	88.0	91.0					1																	216219883		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216219883A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6215T>A	1.37:g.216219883A>T	ENSP00000305941:p.Leu2072Gln	HNSCC(13;0.011)					p.L2072Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6602	-			2072			Extracellular (Potential).|Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6215T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671043	0.29693	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55760	0.5;0.5	5.48	3.1	0.35709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.491568	0.14724	N	0.302178	T	0.36166	0.0957	L	0.45051	1.395	0.09310	N	1	P	0.38642	0.641	B	0.36030	0.216	T	0.14980	-1.0453	10	0.10636	T	0.68	.	4.78	0.13197	0.63:0.0:0.0796:0.2904	.	2072	O75445	USH2A_HUMAN	Q	2072	ENSP00000305941:L2072Q;ENSP00000355910:L2072Q	ENSP00000305941:L2072Q	L	-	2	0	USH2A	214286506	0.821000	0.29204	0.189000	0.23252	0.873000	0.50193	2.381000	0.44336	0.431000	0.26258	0.533000	0.62120	CTG		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		38	3	0	0	0	0.009718	0	38	3				
USH2A	7399	broad.mit.edu	37	1	216405386	216405386	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:216405386C>A	ENST00000307340.3	-	14	3288	c.2902G>T	c.(2902-2904)Ggt>Tgt	p.G968C	USH2A_ENST00000366942.3_Missense_Mutation_p.G968C|USH2A_ENST00000366943.2_Missense_Mutation_p.G968C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	968	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACACTGACCAGTCAGGCTA	0.448										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2902-2904)GGT>TGT		usherin isoform B							140.0	125.0	130.0					1																	216405386		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216405386C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2902G>T	1.37:g.216405386C>A	ENSP00000305941:p.Gly968Cys	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.G968C	p.G968C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	14	3289	-			968			Extracellular (Potential).|Laminin EGF-like 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2902G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172356	0.78452	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.76060	-0.99;-0.99;-0.99	5.93	5.01	0.66863	EGF-like, laminin (3);	0.000000	0.45867	D	0.000331	D	0.91613	0.7350	H	0.98849	4.35	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	D	0.94146	0.7401	10	0.87932	D	0	.	14.5338	0.67944	0.0:0.9303:0.0:0.0697	.	968;968	O75445-2;O75445	.;USH2A_HUMAN	C	968	ENSP00000305941:G968C;ENSP00000355910:G968C;ENSP00000355909:G968C	ENSP00000305941:G968C	G	-	1	0	USH2A	214472009	0.997000	0.39634	0.773000	0.31616	0.938000	0.57974	2.824000	0.48088	2.803000	0.96430	0.650000	0.86243	GGT		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		61	11	1	0	3.89483e-19	0.00361	5.66361e-19	61	11				
SLC30A10	55532	broad.mit.edu	37	1	220101623	220101623	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:220101623C>G	ENST00000366926.3	-	1	321	c.160G>C	c.(160-162)Ggc>Cgc	p.G54R	SLC30A10_ENST00000536992.1_Missense_Mutation_p.G54R|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	54					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCGCTCAGGCCCACGCACAGC	0.697																																					Colon(76;360 1614 43677 51136)	Colon(76;360 1614 43677 51136)	uc001hlw.2		NA																	0					0						c.(160-162)GGC>CGC		solute carrier family 30 (zinc transporter),							26.0	31.0	29.0					1																	220101623		2196	4298	6494	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220101623C>G	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.160G>C	1.37:g.220101623C>G	ENSP00000355893:p.Gly54Arg					SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR	p.G54R	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	1	371	-			54			Helical; (Potential).		Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.160G>C	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261314	0.95368	.	.	ENSG00000196660	ENST00000366926;ENST00000536992	T;T	0.64438	-0.1;-0.1	3.94	3.94	0.45596	.	0.068988	0.56097	D	0.000028	T	0.82130	0.4970	M	0.90542	3.125	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	D	0.86527	0.1819	9	.	.	.	-19.2995	16.1064	0.81225	0.0:1.0:0.0:0.0	.	54	Q6XR72	ZNT10_HUMAN	R	54	ENSP00000355893:G54R;ENSP00000440627:G54R	.	G	-	1	0	SLC30A10	218168246	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.288000	0.78691	2.178000	0.69098	0.491000	0.48974	GGC		0.697	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		11	2	0	0	0	0.008291	0	11	2				
OBSCN	84033	broad.mit.edu	37	1	228434381	228434381	+	Missense_Mutation	SNP	G	G	T	rs199746237	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:228434381G>T	ENST00000422127.1	+	13	3954	c.3910G>T	c.(3910-3912)Gtg>Ttg	p.V1304L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1304L|OBSCN_ENST00000570156.2_Missense_Mutation_p.V1396L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1304	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGTTCGAAAGTGCGCATAGA	0.647																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3910-3912)GTG>TTG		obscurin, cytoskeletal calmodulin and							89.0	93.0	91.0					1																	228434381		2075	4212	6287	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228434381G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3910G>T	1.37:g.228434381G>T	ENSP00000409493:p.Val1304Leu					OBSCN_uc001hsn.2_Missense_Mutation_p.V1304L	p.V1304L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			13	3954	+		Prostate(94;0.0405)	1304			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3910G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	8.601	0.886759	0.17540	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.67345	-0.26;-0.26	5.01	4.1	0.47936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.319059	0.25894	N	0.027607	T	0.69486	0.3116	L	0.58101	1.795	0.80722	D	1	D;P	0.56746	0.977;0.928	P;P	0.62014	0.897;0.719	T	0.66814	-0.5828	10	0.12766	T	0.61	.	5.4792	0.16713	0.0808:0.1304:0.6374:0.1513	.	1304;1304	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1304	ENSP00000284548:V1304L;ENSP00000409493:V1304L	ENSP00000284548:V1304L	V	+	1	0	OBSCN	226501004	0.008000	0.16893	0.278000	0.24718	0.005000	0.04900	0.005000	0.13129	1.091000	0.41335	0.563000	0.77884	GTG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		69	19	1	0	1.55545e-33	0.00361	2.65745e-33	69	19				
OBSCN	84033	broad.mit.edu	37	1	228479742	228479742	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:228479742A>G	ENST00000422127.1	+	39	10527	c.10483A>G	c.(10483-10485)Atc>Gtc	p.I3495V	OBSCN_ENST00000570156.2_Missense_Mutation_p.I3924V|OBSCN_ENST00000359599.6_Missense_Mutation_p.I2342V|OBSCN_ENST00000284548.11_Missense_Mutation_p.I3495V|OBSCN_ENST00000366707.4_Missense_Mutation_p.I614V|OBSCN_ENST00000366709.4_Missense_Mutation_p.I614V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3495	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACAGATACATCCTGAGGCA	0.632																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(10483-10485)ATC>GTC		obscurin, cytoskeletal calmodulin and							102.0	106.0	105.0					1																	228479742		2074	4186	6260	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479742A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10483A>G	1.37:g.228479742A>G	ENSP00000409493:p.Ile3495Val					OBSCN_uc001hsn.2_Missense_Mutation_p.I3495V|OBSCN_uc001hsq.1_Missense_Mutation_p.I751V	p.I3495V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			39	10527	+		Prostate(94;0.0405)	3495			Ig-like 35.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.10483A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868294	0.51588	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.1	2.79	0.32731	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444503	0.26503	N	0.024006	T	0.33731	0.0873	N	0.03071	-0.42	0.09310	N	0.999994	B;B	0.22800	0.075;0.001	B;B	0.27380	0.079;0.004	T	0.21861	-1.0233	10	0.25751	T	0.34	.	7.4048	0.26985	0.7538:0.0:0.2462:0.0	.	3495;3495	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3495;3495;614;614;2342	ENSP00000284548:I3495V;ENSP00000409493:I3495V;ENSP00000355668:I614V;ENSP00000355670:I614V;ENSP00000352613:I2342V	ENSP00000284548:I3495V	I	+	1	0	OBSCN	226546365	0.000000	0.05858	0.794000	0.32065	0.916000	0.54674	-0.062000	0.11674	0.423000	0.26033	0.418000	0.28097	ATC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		71	12	0	0	0	0.00361	0	71	12				
NUP133	55746	broad.mit.edu	37	1	229622275	229622276	+	Splice_Site	DNP	CC	CC	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:229622275_229622276CC>AA	ENST00000261396.3	-	11	1434	c.1343_1343GG>TT	c.(1342-1344)gGGg>gTTgg	p.G448V	NUP133_ENST00000537506.1_Splice_Site_p.G432V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	448			G -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AACACTATCTCCTAAAAGAAAG	0.351																																							uc001htn.2		NA																	0				breast(4)|skin(2)|ovary(1)	7						c.e11-1		nucleoporin 133kDa																																				SO:0001630	splice_region_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229622275_229622276CC>AA		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1343_1343delinsAA	1.37:g.229622275_229622276delinsAA							p.G448_splice	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			11	1435	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)						B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Splice_Site	DNP	ENST00000261396.3	37	c.1343_splice	CCDS1579.1																																																																																				0.351	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	Missense_Mutation	19	5	0	0	0	0.004672	0	19	5				
RBM34	23029	broad.mit.edu	37	1	235324532	235324532	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:235324532C>T	ENST00000408888.3	-	1	240	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	RBM34_ENST00000366606.3_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	4						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTCATCCCTTCCAAGGCCATT	0.627																																							uc001hwn.2		NA																	0				central_nervous_system(1)	1						c.(10-12)GAA>AAA		RNA binding motif protein 34 isoform 1							131.0	145.0	140.0					1																	235324532		2043	4182	6225	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235324532C>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.10G>A	1.37:g.235324532C>T	ENSP00000386226:p.Glu4Lys					RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.E4K	p.E4K	NM_015014	NP_055829	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		1	40	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	4					A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.10G>A	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808327	0.70797	.	.	ENSG00000188739	ENST00000408888;ENST00000400947;ENST00000447801;ENST00000429912	T;T	0.18502	2.48;2.21	4.84	1.27	0.21489	.	0.827926	0.10475	N	0.670357	T	0.17023	0.0409	L	0.60455	1.87	0.09310	N	0.999995	B;B	0.26318	0.046;0.146	B;B	0.24974	0.019;0.057	T	0.25467	-1.0131	10	0.54805	T	0.06	-7.1485	6.3742	0.21499	0.0:0.6158:0.0:0.3842	.	4;4	P42696-2;P42696	.;RBM34_HUMAN	K	4;4;2;4	ENSP00000386226:E4K;ENSP00000400000:E2K	ENSP00000383731:E4K	E	-	1	0	RBM34	233391155	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.225000	0.09151	0.138000	0.18790	0.655000	0.94253	GAA		0.627	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		90	16	0	0	0	0.00361	0	90	16				
NID1	4811	broad.mit.edu	37	1	236201413	236201413	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:236201413C>A	ENST00000264187.6	-	5	1358	c.1276G>T	c.(1276-1278)Gtt>Ttt	p.V426F	NID1_ENST00000366595.3_Missense_Mutation_p.V426F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	426	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCTTCTGCAACACATTGCCTG	0.522																																							uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1276-1278)GTT>TTT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						91.0	85.0	87.0					1																	236201413		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236201413C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1276G>T	1.37:g.236201413C>A	ENSP00000264187:p.Val426Phe					NID1_uc009xgd.2_Missense_Mutation_p.V426F	p.V426F	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		5	1378	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	426			EGF-like 1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1276G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706995	0.68615	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88124	-2.34;-2.34	5.52	5.52	0.82312	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.107851	0.64402	D	0.000009	D	0.92277	0.7550	L	0.56199	1.76	0.50171	D	0.999855	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.985	D	0.92596	0.6087	10	0.72032	D	0.01	.	19.4461	0.94847	0.0:1.0:0.0:0.0	.	426;426	P14543-2;P14543	.;NID1_HUMAN	F	426	ENSP00000264187:V426F;ENSP00000355554:V426F	ENSP00000264187:V426F	V	-	1	0	NID1	234268036	1.000000	0.71417	0.981000	0.43875	0.436000	0.31835	3.789000	0.55454	2.602000	0.87976	0.650000	0.86243	GTT		0.522	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		51	19	1	0	7.34454e-26	0.00361	1.17683e-25	51	19				
RYR2	6262	broad.mit.edu	37	1	237965165	237965165	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:237965165C>A	ENST00000366574.2	+	98	14417	c.14100C>A	c.(14098-14100)tcC>tcA	p.S4700S	RYR2_ENST00000542537.1_Silent_p.S4684S|RYR2_ENST00000360064.6_Silent_p.S4706S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4700					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACTGAACTCCATTGATGTGA	0.393																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14098-14100)TCC>TCA		cardiac muscle ryanodine receptor							94.0	87.0	89.0					1																	237965165		1871	4121	5992	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237965165C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14100C>A	1.37:g.237965165C>A						RYR2_uc010pyb.1_Silent_p.S133S	p.S4700S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		98	14220	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4700					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.14100C>A	CCDS55691.1																																																																																				0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	3	1	0	6.21321e-17	0.00278	8.63244e-17	22	3				
FMN2	56776	broad.mit.edu	37	1	240255968	240255968	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:240255968C>T	ENST00000319653.9	+	1	789	c.559C>T	c.(559-561)Cat>Tat	p.H187Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	187					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTATAGCTTCCATTCGGCTAC	0.622																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(559-561)CAT>TAT		formin 2							73.0	72.0	72.0					1																	240255968		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255968C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.559C>T	1.37:g.240255968C>T	ENSP00000318884:p.His187Tyr					FMN2_uc010pye.1_Missense_Mutation_p.H187Y	p.H187Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	784	+	Ovarian(103;0.127)	all_cancers(173;0.013)	187					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.559C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243020	0.39697	.	.	ENSG00000155816	ENST00000319653	T	0.68765	-0.35	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000007	T	0.79046	0.4380	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.82573	-0.0390	10	0.87932	D	0	.	15.9248	0.79609	0.0:1.0:0.0:0.0	.	187	Q9NZ56	FMN2_HUMAN	Y	187	ENSP00000318884:H187Y	ENSP00000318884:H187Y	H	+	1	0	FMN2	238322591	1.000000	0.71417	0.989000	0.46669	0.798000	0.45092	6.826000	0.75298	2.046000	0.60703	0.313000	0.20887	CAT		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		43	12	0	0	0	0.00361	0	43	12				
RGS7	6000	broad.mit.edu	37	1	240975230	240975230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:240975230G>T	ENST00000407727.1	-	13	1069	c.1070C>A	c.(1069-1071)tCg>tAg	p.S357*	RGS7_ENST00000366565.1_Nonsense_Mutation_p.S357*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.S304*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.S273*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.S357*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.S331*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.S357*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.S357*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.S304*			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	357	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAAATTTTCCGAGCTGAATTC	0.398																																							uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(1069-1071)TCG>TAG		regulator of G-protein signaling 7							70.0	74.0	73.0					1																	240975230		2203	4299	6502	SO:0001587	stop_gained	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240975230G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1070C>A	1.37:g.240975230G>T	ENSP00000384428:p.Ser357*					RGS7_uc010pyh.1_Nonsense_Mutation_p.S331*|RGS7_uc010pyj.1_Nonsense_Mutation_p.S273*|RGS7_uc001hyu.2_Nonsense_Mutation_p.S357*|RGS7_uc009xgn.1_Nonsense_Mutation_p.S304*|RGS7_uc001hyw.2_Nonsense_Mutation_p.S357*|RGS7_uc001hyt.2_Nonsense_Mutation_p.S189*	p.S357*	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		14	1400	-		all_cancers(173;0.0131)	357			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Nonsense_Mutation	SNP	ENST00000407727.1	37	c.1070C>A		.	.	.	.	.	.	.	.	.	.	G	36	5.952036	0.97139	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	19.0419	0.93004	0.0:0.0:1.0:0.0	.	.	.	.	X	331;357;357;357;188;304;273;357;357;304	.	ENSP00000331485:S331X	S	-	2	0	RGS7	239041853	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.758000	0.94735	0.561000	0.74099	TCG		0.398	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		33	9	1	0	2.42023e-17	0.003271	3.39676e-17	33	9				
WDR64	128025	broad.mit.edu	37	1	241943305	241943305	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:241943305G>C	ENST00000366552.2	+	21	2713		c.e21-1		WDR64_ENST00000437684.2_Splice_Site	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATTTTATACAGAAGGACATGT	0.284																																							uc001hzf.1		NA																	0				skin(1)	1						c.e11-1		WD repeat domain 64							64.0	66.0	65.0					1																	241943305		2203	4300	6503	SO:0001630	splice_region_variant	128025							g.chr1:241943305G>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2507-1G>C	1.37:g.241943305G>C						WDR64_uc001hzg.1_Splice_Site_p.E302_splice	p.E389_splice	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		11	1319	+	Ovarian(103;0.103)	all_cancers(173;0.0121)						B1ANT0|Q7Z573|Q96LY9	Splice_Site	SNP	ENST00000366552.2	37	c.1166_splice		.	.	.	.	.	.	.	.	.	.	G	18.98	3.737344	0.69304	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635;ENST00000425826	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6763	0.85280	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR64	240009928	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.228000	0.65310	2.732000	0.93576	0.650000	0.86243	.		0.284	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	Intron	8	2	0	0	0	0.008291	0	8	2				
CEP170	9859	broad.mit.edu	37	1	243349110	243349110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:243349110C>A	ENST00000366542.1	-	10	1588	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	513						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCTTCCACTTCCTCACTGTTG	0.353																																							uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1537-1539)GAA>TAA		centrosomal protein 170kDa isoform alpha							123.0	122.0	122.0					1																	243349110		1854	4102	5956	SO:0001587	stop_gained	9859					centriole|microtubule|spindle		g.chr1:243349110C>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1537G>T	1.37:g.243349110C>A	ENSP00000355500:p.Glu513*					CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	p.E513*	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		10	1945	-	all_neural(11;0.101)	all_cancers(173;0.003)	513					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Nonsense_Mutation	SNP	ENST00000366542.1	37	c.1537G>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.057041|7.057041	0.98032|0.98032	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542|ENST00000336415	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.050858|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74981	.|0.3788	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73842	.|-0.3855	.|4	0.10902|.	T|.	0.67|.	-19.2752|-19.2752	18.9535|18.9535	0.92649|0.92649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	513|476	.|.	ENSP00000355500:E513X|.	E|R	-|-	1|3	0|2	CEP170|CEP170	241415733|241415733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.456000|7.456000	0.80751|0.80751	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GAA|AGG		0.353	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		72	22	1	0	1.17611e-34	0.00361	2.02547e-34	72	22				
VN1R5	317705	broad.mit.edu	37	1	247419950	247419950	+	IGR	SNP	C	C	A	rs369825150		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:247419950C>A								RP11-488L18.8 (14825 upstream) : Y_RNA (38186 downstream)																							CCCAGTGAAACGGGGCCAGTC	0.463																																						GBM(98;63 1399 4825 21305 33017)	uc010pyu.1		NA																	0					0						c.(577-579)CGG>AGG		vomeronasal 1 receptor 5							255.0	240.0	245.0					1																	247419950		1917	4140	6057	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419950C>A																													1.37:g.247419950C>A							p.R193R	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	577	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	193			Cytoplasmic (Potential).			Silent	SNP		37	c.577C>A																																																																																				0	0.463									172	41	1	0	2.41315e-71	0.00361	4.51357e-71	172	41				
ZNF496	84838	broad.mit.edu	37	1	247464180	247464180	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:247464180C>T	ENST00000294753.4	-	9	1869	c.1405G>A	c.(1405-1407)Ggg>Agg	p.G469R	ZNF496_ENST00000366498.2_Missense_Mutation_p.G505R|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	469					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AAGCTCTTCCCGCAGGCACCA	0.657																																							uc001ico.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1405-1407)GGG>AGG		zinc finger protein 496							62.0	66.0	64.0					1																	247464180		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464180C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1405G>A	1.37:g.247464180C>T	ENSP00000294753:p.Gly469Arg					ZNF496_uc009xgv.2_Missense_Mutation_p.G505R|ZNF496_uc001icp.2_Missense_Mutation_p.G469R	p.G469R	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1870	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		469			C2H2-type 3.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1405G>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520547	0.64747	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.03524	3.9;3.9	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120571	0.37809	N	0.001931	T	0.13586	0.0329	L	0.56199	1.76	0.47737	D	0.999505	D;D	0.89917	1.0;0.99	D;P	0.74348	0.983;0.628	T	0.00448	-1.1733	10	0.87932	D	0	-47.6964	14.5539	0.68086	0.0:1.0:0.0:0.0	.	505;469	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	R	469;505	ENSP00000294753:G469R;ENSP00000355454:G505R	ENSP00000294753:G469R	G	-	1	0	ZNF496	245530803	0.992000	0.36948	0.983000	0.44433	0.174000	0.22865	4.278000	0.58946	2.352000	0.79861	0.655000	0.94253	GGG		0.657	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		40	4	0	0	0	0.007835	0	40	4				
OR2T3	343173	broad.mit.edu	37	1	248636956	248636956	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:248636956G>T	ENST00000359594.2	+	1	330	c.305G>T	c.(304-306)tGt>tTt	p.C102F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	102						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(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGTCAGGCTGTGGGATCCAG	0.557																																							uc001iel.1		NA																	0				skin(1)	1						c.(304-306)TGT>TTT		olfactory receptor, family 2, subfamily T,							110.0	99.0	102.0					1																	248636956		2190	4298	6488	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636956G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.305G>T	1.37:g.248636956G>T	ENSP00000352604:p.Cys102Phe						p.C102F	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	305	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		102			Extracellular (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.305G>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	14.51	2.555992	0.45487	.	.	ENSG00000196539	ENST00000359594	T	0.00547	6.66	2.65	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04679	0.0127	H	0.99058	4.415	0.37251	D	0.906573	D	0.89917	1.0	D	0.91635	0.999	T	0.08953	-1.0697	9	0.87932	D	0	.	12.31	0.54924	0.0:0.0:1.0:0.0	.	102	Q8NH03	OR2T3_HUMAN	F	102	ENSP00000352604:C102F	ENSP00000352604:C102F	C	+	2	0	OR2T3	246703579	1.000000	0.71417	0.149000	0.22428	0.119000	0.20118	4.999000	0.63934	1.173000	0.42796	0.186000	0.17326	TGT		0.557	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		37	8	1	0	1.48734e-19	0.003214	2.17259e-19	37	8				
OR2T3	343173	broad.mit.edu	37	1	248637363	248637363	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:248637363G>T	ENST00000359594.2	+	1	737	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	238						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(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTGCCGCCGGCCACAGGAA	0.562																																							uc001iel.1		NA																	0				skin(1)	1						c.(712-714)GGC>TGC		olfactory receptor, family 2, subfamily T,							194.0	164.0	174.0					1																	248637363		2201	4296	6497	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637363G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.712G>T	1.37:g.248637363G>T	ENSP00000352604:p.Gly238Cys						p.G238C	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	712	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		238			Cytoplasmic (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.712G>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	12.10	1.835596	0.32421	.	.	ENSG00000196539	ENST00000359594	T	0.00378	7.67	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01730	0.0055	H	0.98089	4.145	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16837	-1.0389	9	0.87932	D	0	.	10.4397	0.44457	0.0:0.0:1.0:0.0	.	238	Q8NH03	OR2T3_HUMAN	C	238	ENSP00000352604:G238C	ENSP00000352604:G238C	G	+	1	0	OR2T3	246703986	0.000000	0.05858	0.018000	0.16275	0.029000	0.11900	0.426000	0.21363	1.014000	0.39417	0.186000	0.17326	GGC		0.562	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		156	39	1	0	4.10442e-84	0.00361	7.73679e-84	156	39				
PITRM1	10531	broad.mit.edu	37	10	3206021	3206021	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:3206021G>A	ENST00000224949.4	-	7	721	c.687C>T	c.(685-687)caC>caT	p.H229H	PITRM1_ENST00000451104.2_Silent_p.H197H|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.H229H			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	229					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGAGTACGTGTGGTCAGGAA	0.448																																							uc010qah.1		NA																	0				pancreas(1)	1						c.(589-591)CAC>CAT		SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;							119.0	118.0	119.0					10																	3206021		1936	4135	6071	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3206021G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.687C>T	10.37:g.3206021G>A						PITRM1_uc001igr.1_Silent_p.H229H|PITRM1_uc001igt.1_Silent_p.H229H|PITRM1_uc001igu.1_Silent_p.H221H|PITRM1_uc010qai.1_Silent_p.H200H|PITRM1_uc001igw.1_Silent_p.H229H|uc001igx.1_5'Flank	p.H197H			E7ES23	E7ES23_HUMAN			6	623	-			197					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.591C>T	CCDS59208.1																																																																																				0.448	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			40	13	0	0	0	0.004878	0	40	13				
IL2RA	3559	broad.mit.edu	37	10	6104107	6104107	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:6104107G>C	ENST00000379959.3	-	1	181	c.8C>G	c.(7-9)tCa>tGa	p.S3*	IL2RA_ENST00000256876.6_Nonsense_Mutation_p.S3*|IL2RA_ENST00000379954.1_Nonsense_Mutation_p.S3*	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	3					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CAGCAGGTATGAATCCATCTT	0.612																																							uc001iiz.1		NA																	0				ovary(1)|skin(1)	2						c.(7-9)TCA>TGA		interleukin 2 receptor, alpha chain precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						73.0	66.0	68.0					10																	6104107		2203	4300	6503	SO:0001587	stop_gained	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6104107G>C	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.8C>G	10.37:g.6104107G>C	ENSP00000369293:p.Ser3*					IL2RA_uc009xih.1_Nonsense_Mutation_p.S3*	p.S3*	NM_000417	NP_000408	P01589	IL2RA_HUMAN			1	167	-			3					Q5W007	Nonsense_Mutation	SNP	ENST00000379959.3	37	c.8C>G	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904599	0.72868	.	.	ENSG00000134460	ENST00000379959;ENST00000379954;ENST00000256876	.	.	.	4.71	3.76	0.43208	.	0.188541	0.26362	N	0.024815	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.8835	9.9492	0.41628	0.0:0.2245:0.7755:0.0	.	.	.	.	X	3	.	ENSP00000256876:S3X	S	-	2	0	IL2RA	6144113	0.001000	0.12720	0.682000	0.30024	0.007000	0.05969	0.989000	0.29629	2.432000	0.82394	0.557000	0.71058	TCA		0.612	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		13	47	0	0	0	0.004007	0	13	47				
ITIH5	80760	broad.mit.edu	37	10	7608211	7608211	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:7608211C>A	ENST00000256861.6	-	13	2387	c.2309G>T	c.(2308-2310)aGa>aTa	p.R770I	ITIH5_ENST00000298441.6_Missense_Mutation_p.R556I|ITIH5_ENST00000446830.2_Missense_Mutation_p.R552I|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	770					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAGCACCAGTCTGTCCCCACC	0.582																																							uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2308-2310)AGA>ATA		inter-alpha trypsin inhibitor heavy chain							106.0	80.0	89.0					10																	7608211		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608211C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2309G>T	10.37:g.7608211C>A	ENSP00000256861:p.Arg770Ile					ITIH5_uc001ijp.2_Missense_Mutation_p.R556I	p.R770I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			13	2388	-			770					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2309G>T		.	.	.	.	.	.	.	.	.	.	C	35	5.440063	0.96168	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12569	2.67;2.67;2.67	5.84	5.84	0.93424	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05550	-1.0878	9	0.48119	T	0.1	-42.7133	20.1165	0.97939	0.0:1.0:0.0:0.0	.	770;556	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	I	770;556;552	ENSP00000256861:R770I;ENSP00000298441:R556I;ENSP00000387969:R552I	ENSP00000256861:R770I	R	-	2	0	ITIH5	7648217	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.356000	0.79445	2.746000	0.94184	0.655000	0.94253	AGA		0.582	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		17	2	1	0	0.00400662	0.004007	0.00413491	17	2				
ITIH5	80760	broad.mit.edu	37	10	7611676	7611676	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:7611676G>T	ENST00000256861.6	-	12	2182	c.2104C>A	c.(2104-2106)Cag>Aag	p.Q702K	ITIH5_ENST00000298441.6_Missense_Mutation_p.Q488K|ITIH5_ENST00000446830.2_Missense_Mutation_p.Q484K|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000434980.1_5'Flank	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	702					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCCCGGGCTGCCCATCAATG	0.547																																							uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2104-2106)CAG>AAG		inter-alpha trypsin inhibitor heavy chain							70.0	61.0	64.0					10																	7611676		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7611676G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2104C>A	10.37:g.7611676G>T	ENSP00000256861:p.Gln702Lys					ITIH5_uc001ijp.2_Missense_Mutation_p.Q488K	p.Q702K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			12	2183	-			702					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2104C>A		.	.	.	.	.	.	.	.	.	.	G	9.056	0.993366	0.19043	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.01647	4.92;4.71;4.71	5.52	-3.75	0.04372	.	0.377447	0.31438	N	0.007644	T	0.02012	0.0063	.	.	.	0.80722	D	1	B;B	0.21309	0.054;0.026	B;B	0.26310	0.031;0.068	T	0.41431	-0.9509	9	0.29301	T	0.29	-12.4138	19.3467	0.94365	0.0:0.6897:0.2304:0.0799	.	702;488	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	K	702;488;484	ENSP00000256861:Q702K;ENSP00000298441:Q488K;ENSP00000387969:Q484K	ENSP00000256861:Q702K	Q	-	1	0	ITIH5	7651682	0.044000	0.20184	0.221000	0.23827	0.154000	0.21943	0.220000	0.17660	-0.380000	0.07894	-0.266000	0.10368	CAG		0.547	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		25	4	1	0	4.26978e-12	0.00333	5.40075e-12	25	4				
ITIH5	80760	broad.mit.edu	37	10	7679202	7679202	+	Missense_Mutation	SNP	C	C	A	rs374950629		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:7679202C>A	ENST00000256861.6	-	5	719	c.641G>T	c.(640-642)gGg>gTg	p.G214V	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.G214V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.G214V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	214					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCCCCGCGCCCACTGCCCCT	0.622																																							uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(640-642)GGG>GTG		inter-alpha trypsin inhibitor heavy chain							97.0	102.0	100.0					10																	7679202		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679202C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.641G>T	10.37:g.7679202C>A	ENSP00000256861:p.Gly214Val					ITIH5_uc001ijr.1_Missense_Mutation_p.G214V	p.G214V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			5	720	-			214					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.641G>T		.	.	.	.	.	.	.	.	.	.	C	2.503	-0.314641	0.05422	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.02579	4.78;4.24;4.25	5.88	3.99	0.46301	.	0.601900	0.19381	N	0.115661	T	0.02571	0.0078	.	.	.	0.30486	N	0.771832	B;B	0.14438	0.01;0.009	B;B	0.20384	0.029;0.01	T	0.25779	-1.0122	9	0.30078	T	0.28	-25.4834	7.8408	0.29397	0.0:0.726:0.1343:0.1397	.	214;214	G5E9D8;Q86UX2	.;ITIH5_HUMAN	V	214	ENSP00000256861:G214V;ENSP00000380333:G214V;ENSP00000380332:G214V	ENSP00000256861:G214V	G	-	2	0	ITIH5	7719208	0.000000	0.05858	0.047000	0.18901	0.181000	0.23173	0.735000	0.26115	0.783000	0.33636	0.655000	0.94253	GGG		0.622	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		88	25	1	0	5.88579e-26	0.00361	9.43874e-26	88	25				
UCMA	221044	broad.mit.edu	37	10	13264168	13264168	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:13264168G>T	ENST00000378681.3	-	5	424	c.352C>A	c.(352-354)Cag>Aag	p.Q118K	UCMA_ENST00000463405.2_Missense_Mutation_p.Q96K	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	118					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGGCGCCACTGCTCCACAGCC	0.607																																							uc001imd.2		NA																	0					0						c.(352-354)CAG>AAG		upper zone of growth plate and cartilage matrix							108.0	94.0	99.0					10																	13264168		2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13264168G>T	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.352C>A	10.37:g.13264168G>T	ENSP00000367952:p.Gln118Lys						p.Q118K	NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN			5	425	-			118			Potential.			Missense_Mutation	SNP	ENST00000378681.3	37	c.352C>A	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477742	0.84640	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.72118	2.19	0.53688	D	0.999978	D	0.71674	0.998	D	0.78314	0.991	T	0.80607	-0.1307	9	0.87932	D	0	-5.0589	15.5703	0.76330	0.0:0.0:1.0:0.0	.	118	Q8WVF2	UCMA_HUMAN	K	118	.	ENSP00000367952:Q118K	Q	-	1	0	UCMA	13304174	1.000000	0.71417	0.989000	0.46669	0.892000	0.51952	6.819000	0.75262	2.412000	0.81896	0.448000	0.29417	CAG		0.607	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		91	11	1	0	3.61922e-38	0.00361	6.32873e-38	91	11				
FAM171A1	221061	broad.mit.edu	37	10	15296861	15296861	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:15296861G>T	ENST00000378116.4	-	4	442	c.436C>A	c.(436-438)Cgc>Agc	p.R146S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	146						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AAATGAACGCGAGGCTGTGGC	0.552																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(436-438)CGC>AGC		hypothetical protein LOC221061 precursor							47.0	46.0	47.0					10																	15296861		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15296861G>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.436C>A	10.37:g.15296861G>T	ENSP00000367356:p.Arg146Ser						p.R146S	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			4	443	-			146			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.436C>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261302	0.39995	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.28895	1.59	5.11	5.11	0.69529	.	0.298640	0.31531	N	0.007483	T	0.22513	0.0543	N	0.25144	0.715	0.39501	D	0.968209	P	0.44946	0.846	B	0.39904	0.313	T	0.04347	-1.0958	10	0.42905	T	0.14	-22.37	14.6258	0.68621	0.0:0.0:0.8538:0.1462	.	146	Q5VUB5	F1711_HUMAN	S	146;147	ENSP00000367356:R146S	ENSP00000367356:R146S	R	-	1	0	FAM171A1	15336867	0.944000	0.32072	0.990000	0.47175	0.614000	0.37383	3.114000	0.50383	2.545000	0.85829	0.650000	0.86243	CGC		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		16	3	1	0	1.45105e-14	0.006122	1.9182e-14	16	3				
ITGA8	8516	broad.mit.edu	37	10	15658514	15658514	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:15658514T>A	ENST00000378076.3	-	14	1797	c.1444A>T	c.(1444-1446)Aga>Tga	p.R482*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	482					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCACATACCTGTAAACAGCG	0.343																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1444-1446)AGA>TGA		integrin, alpha 8 precursor							126.0	113.0	117.0					10																	15658514		2203	4300	6503	SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15658514T>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1445+1A>T	10.37:g.15658514T>A						ITGA8_uc010qcb.1_Nonsense_Mutation_p.R467*	p.R482*	NM_003638	NP_003629	P53708	ITA8_HUMAN			14	1444	-			482			Extracellular (Potential).|FG-GAP 7.		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	c.1444A>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	42	9.180129	0.99091	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9373	0.64032	0.0:0.0:0.0:1.0	.	.	.	.	X	482;467	.	ENSP00000367316:R482X	R	-	1	2	ITGA8	15698520	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.349000	0.66010	2.117000	0.64856	0.533000	0.62120	AGA		0.343	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Nonsense_Mutation	33	1	0	0	0	0.003271	0	33	1				
PLXDC2	84898	broad.mit.edu	37	10	20335798	20335798	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:20335798G>C	ENST00000377252.4	+	3	1166	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	109					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E109*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATTATTGCAGGAGGATACAGA	0.313																																							uc001iqg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(325-327)GAG>CAG		plexin domain containing 2 precursor							90.0	99.0	96.0					10																	20335798		2203	4300	6503	SO:0001630	splice_region_variant	84898					integral to membrane		g.chr10:20335798G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.325-1G>C	10.37:g.20335798G>C						PLXDC2_uc001iqh.1_Intron	p.E109Q	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			3	962	+			109			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.325G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495797	0.85069	.	.	ENSG00000120594	ENST00000377252;ENST00000536022	T	0.25414	1.8	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.52126	1.63	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.07366	-1.0776	9	.	.	.	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	109	Q6UX71	PXDC2_HUMAN	Q	109;95	ENSP00000366460:E109Q	.	E	+	1	0	PLXDC2	20375804	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.586000	0.82596	2.459000	0.83118	0.650000	0.86243	GAG		0.313	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	Missense_Mutation	86	10	0	0	0	0.00361	0	86	10				
MLLT10	8028	broad.mit.edu	37	10	21903816	21903816	+	Missense_Mutation	SNP	A	A	G	rs370945996		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:21903816A>G	ENST00000307729.7	+	7	744	c.566A>G	c.(565-567)cAa>cGa	p.Q189R	MLLT10_ENST00000446906.2_Missense_Mutation_p.Q189R|MLLT10_ENST00000377072.3_Missense_Mutation_p.Q189R|MLLT10_ENST00000377059.3_Missense_Mutation_p.Q189R			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	189	Interaction with FSTL3.|Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GATAATGTCCAATACTGTGGC	0.338			T	"""MLL, PICALM, CDK6"""	AL																																		uc001iqs.2		NA		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		0				lung(1)|skin(1)	2						c.(565-567)CAA>CGA		myeloid/lymphoid or mixed-lineage leukemia		A	ARG/GLN,ARG/GLN	0,4406		0,0,2203	136.0	137.0	137.0		566,566	5.3	1.0	10		137	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MLLT10	NM_001195626.1,NM_004641.3	43,43	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	189/1069,189/1028	21903816	2,13004	2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21903816A>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.566A>G	10.37:g.21903816A>G	ENSP00000307411:p.Gln189Arg					MLLT10_uc001iqt.2_Missense_Mutation_p.Q189R|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.Q189R|MLLT10_uc001ira.2_5'Flank|MLLT10_uc001iqz.2_5'UTR	p.Q189R	NM_004641	NP_004632	P55197	AF10_HUMAN			7	914	+			189			Interaction with FSTL3.|Self-association.|PHD-type 2.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.566A>G	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782368	0.70222	0.0	2.33E-4	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.3	5.3	0.74995	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.120017	0.56097	D	0.000031	T	0.16171	0.0389	N	0.17872	0.535	0.49213	D	0.99976	P;P;P	0.52170	0.873;0.951;0.873	P;P;P	0.52109	0.677;0.69;0.677	T	0.02378	-1.1168	10	0.51188	T	0.08	.	13.81	0.63256	1.0:0.0:0.0:0.0	.	189;189;189	E9PBP4;Q5VX90;P55197	.;.;AF10_HUMAN	R	189;189;189;35;189	ENSP00000366272:Q189R;ENSP00000401406:Q189R;ENSP00000307411:Q189R;ENSP00000366258:Q189R	ENSP00000307411:Q189R	Q	+	2	0	MLLT10	21943822	1.000000	0.71417	0.971000	0.41717	0.939000	0.58152	9.108000	0.94275	2.006000	0.58801	0.460000	0.39030	CAA		0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			4	52	0	0	0	0.000602	0	4	52				
GAD2	2572	broad.mit.edu	37	10	26507994	26507994	+	Silent	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:26507994A>C	ENST00000376261.3	+	4	812	c.309A>C	c.(307-309)ggA>ggC	p.G103G	GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Silent_p.G103G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	103					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTGTGATGGAGAAAGGCCCA	0.363																																							uc001isp.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(307-309)GGA>GGC		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						92.0	88.0	90.0					10																	26507994		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26507994A>C	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.309A>C	10.37:g.26507994A>C						GAD2_uc009xkr.2_Silent_p.G103G|GAD2_uc001isq.2_Silent_p.G103G	p.G103G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			4	812	+			103					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.309A>C	CCDS7149.1																																																																																				0.363	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		47	30	0	0	0	0.00361	0	47	30				
KIAA1462	57608	broad.mit.edu	37	10	30316682	30316682	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:30316682G>T	ENST00000375377.1	-	3	2496	c.2395C>A	c.(2395-2397)Cgg>Agg	p.R799R		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	799					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCACCTCCCGCTTAGGCCCA	0.612																																							uc001iux.2		NA																	0				ovary(4)	4						c.(2395-2397)CGG>AGG		hypothetical protein LOC57608							76.0	80.0	79.0					10																	30316682		1952	4142	6094	SO:0001819	synonymous_variant	57608							g.chr10:30316682G>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2395C>A	10.37:g.30316682G>T						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.R661R|KIAA1462_uc009xle.1_Silent_p.R799R	p.R799R	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2454	-			799					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2395C>A	CCDS41500.1																																																																																				0.612	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		107	64	1	0	2.66069e-56	0.00361	4.89607e-56	107	64				
FZD8	8325	broad.mit.edu	37	10	35929082	35929082	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:35929082C>A	ENST00000374694.1	-	1	1280	c.1276G>T	c.(1276-1278)Ggt>Tgt	p.G426C	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	426					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CACTTCATACCGGCCGCCAGG	0.632																																							uc001iyz.1		NA																	0					0						c.(1276-1278)GGT>TGT		frizzled 8 precursor							48.0	47.0	47.0					10																	35929082		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929082C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1276G>T	10.37:g.35929082C>A	ENSP00000363826:p.Gly426Cys						p.G426C	NM_031866	NP_114072	Q9H461	FZD8_HUMAN			1	1281	-			426			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000374694.1	37	c.1276G>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674037	0.47781	.	.	ENSG00000177283	ENST00000374694	D	0.83419	-1.72	3.74	3.74	0.42951	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000002	D	0.93680	0.7981	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95806	0.8837	10	0.87932	D	0	.	15.6696	0.77262	0.0:1.0:0.0:0.0	.	426	Q9H461	FZD8_HUMAN	C	426	ENSP00000363826:G426C	ENSP00000363826:G426C	G	-	1	0	FZD8	35969088	1.000000	0.71417	0.998000	0.56505	0.178000	0.23041	7.192000	0.77771	2.067000	0.61834	0.289000	0.19496	GGT		0.632	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		9	43	1	0	1.12685e-05	0.004482	1.23405e-05	9	43				
ZNF33A	7581	broad.mit.edu	37	10	38343357	38343357	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:38343357A>T	ENST00000458705.2	+	5	460	c.302A>T	c.(301-303)cAt>cTt	p.H101L	ZNF33A_ENST00000374618.3_Missense_Mutation_p.H102L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H101L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H108L|ZNF33A_ENST00000469037.2_Missense_Mutation_p.H102L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAATCTAAACATTTGTGGGAA	0.348																																							uc001izh.2		NA																	0				ovary(2)|skin(1)	3						c.(301-303)CAT>CTT		zinc finger protein 33A isoform b							94.0	95.0	95.0					10																	38343357		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343357A>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.302A>T	10.37:g.38343357A>T	ENSP00000387713:p.His101Leu					ZNF33A_uc001izg.2_Missense_Mutation_p.H102L|ZNF33A_uc010qev.1_Missense_Mutation_p.H108L|ZNF33A_uc001izi.1_Missense_Mutation_p.H102L	p.H101L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	480	+			101					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.302A>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	6.429	0.447280	0.12223	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.05447	3.44;3.46;3.46;3.46	1.68	0.49	0.16861	.	0.747888	0.10981	N	0.612700	T	0.06325	0.0163	L	0.42581	1.335	0.24380	N	0.994799	D;P;P;B	0.53462	0.96;0.651;0.883;0.13	P;B;B;B	0.47573	0.55;0.153;0.348;0.057	T	0.28235	-1.0050	10	0.15499	T	0.54	.	2.4674	0.04556	0.52:0.2921:0.1879:0.0	.	108;102;101;102	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	L	102;108;101;102;101	ENSP00000363747:H102L;ENSP00000402467:H108L;ENSP00000387713:H101L;ENSP00000304268:H101L	ENSP00000277672:H102L	H	+	2	0	ZNF33A	38383363	0.023000	0.18921	0.982000	0.44146	0.974000	0.67602	1.203000	0.32284	0.118000	0.18165	0.377000	0.23210	CAT		0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		68	29	0	0	0	0.00361	0	68	29				
ZNF37A	7587	broad.mit.edu	37	10	38406450	38406450	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:38406450G>T	ENST00000361085.5	+	7	716	c.371G>T	c.(370-372)gGg>gTg	p.G124V	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G124V	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATAAAAATGGGAACAGCTTC	0.338																																							uc001izk.2		NA																	0				breast(1)	1						c.(370-372)GGG>GTG		zinc finger protein 37a							72.0	84.0	80.0					10																	38406450		2202	4298	6500	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406450G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.371G>T	10.37:g.38406450G>T	ENSP00000354377:p.Gly124Val					ZNF37A_uc001izl.2_Missense_Mutation_p.G124V|ZNF37A_uc001izm.2_Missense_Mutation_p.G124V	p.G124V	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	1190	+			124					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.371G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741346	0.15642	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.08102	3.13;3.13	2.62	0.675	0.17952	.	.	.	.	.	T	0.18759	0.0450	H	0.94385	3.53	0.41440	D	0.987912	P	0.45348	0.856	B	0.43575	0.424	T	0.05289	-1.0894	9	0.87932	D	0	.	6.3766	0.21511	0.2713:0.0:0.7287:0.0	.	124	P17032	ZN37A_HUMAN	V	124	ENSP00000329141:G124V;ENSP00000354377:G124V	ENSP00000329141:G124V	G	+	2	0	ZNF37A	38446456	0.033000	0.19621	0.213000	0.23690	0.205000	0.24178	0.185000	0.16958	0.034000	0.15491	-0.229000	0.12294	GGG		0.338	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		72	41	1	0	1.43675e-24	0.00361	2.26462e-24	72	41				
HNRNPA3P1	10151	broad.mit.edu	37	10	44285076	44285076	+	IGR	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:44285076C>G								RP11-272J7.4 (10803 upstream) : LINC00619 (55677 downstream)																							ctgctgccaccacctccacca	0.498																																							uc010qfe.1		NA																	0					0						c.(760-762)GGT>CGT		SubName: Full=cDNA FLJ52659, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=cDNA, FLJ79333, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=Heterogeneous nuclear ribonucleoprotein A3, isoform CRA_a;																																				SO:0001628	intergenic_variant	10151							g.chr10:44285076C>G																													10.37:g.44285076C>G							p.G254R	NR_002726						1	790	-									Missense_Mutation	SNP		37	c.760G>C																																																																																				0	0.498									25	48	0	0	0	0.004656	0	25	48				
RBP3	5949	broad.mit.edu	37	10	48382182	48382182	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:48382182T>C	ENST00000224600.4	-	4	3580	c.3467A>G	c.(3466-3468)tAt>tGt	p.Y1156C		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1156	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTTCATGATATAGGTGAACTC	0.592																																							uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(3466-3468)TAT>TGT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						51.0	55.0	53.0					10																	48382182		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48382182T>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3467A>G	10.37:g.48382182T>C	ENSP00000224600:p.Tyr1156Cys						p.Y1156C	NM_002900	NP_002891	P10745	RET3_HUMAN			4	3581	-			1156			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.3467A>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510012	0.44660	.	.	ENSG00000107618	ENST00000224600	T	0.66099	-0.19	5.66	4.46	0.54185	Interphotoreceptor retinol-binding (2);	0.373443	0.31507	N	0.007531	T	0.78717	0.4327	M	0.89968	3.075	0.33151	D	0.545683	D	0.89917	1.0	D	0.65323	0.934	D	0.85483	0.1180	10	0.87932	D	0	-11.1909	8.2996	0.32006	0.1299:0.0:0.1351:0.735	.	1156	P10745	RET3_HUMAN	C	1156	ENSP00000224600:Y1156C	ENSP00000224600:Y1156C	Y	-	2	0	RBP3	48002188	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	2.464000	0.45067	2.171000	0.68590	0.529000	0.55759	TAT		0.592	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		17	50	0	0	0	0.002299	0	17	50				
RBP3	5949	broad.mit.edu	37	10	48389347	48389347	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:48389347C>T	ENST00000224600.4	-	1	1644	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	511	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGCGGCGATCATAGGTGGTG	0.657																																							uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1531-1533)GAT>AAT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						34.0	39.0	37.0					10																	48389347		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389347C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1531G>A	10.37:g.48389347C>T	ENSP00000224600:p.Asp511Asn						p.D511N	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1645	-			511			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1531G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952984	0.34471	.	.	ENSG00000107618	ENST00000224600	T	0.63417	-0.04	5.43	2.56	0.30785	Interphotoreceptor retinol-binding (2);	0.230411	0.42548	N	0.000694	T	0.48466	0.1501	L	0.39514	1.22	0.50039	D	0.999842	B	0.19817	0.039	B	0.23150	0.044	T	0.34254	-0.9836	10	0.32370	T	0.25	-33.5001	7.633	0.28251	0.0:0.6759:0.0:0.3241	.	511	P10745	RET3_HUMAN	N	511	ENSP00000224600:D511N	ENSP00000224600:D511N	D	-	1	0	RBP3	48009353	0.787000	0.28750	0.982000	0.44146	0.905000	0.53344	1.203000	0.32284	0.674000	0.31244	0.561000	0.74099	GAT		0.657	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		29	28	0	0	0	0.007291	0	29	28				
FRMPD2	143162	broad.mit.edu	37	10	49431294	49431294	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:49431294C>A	ENST00000374201.3	-	11	1490	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	FRMPD2_ENST00000305531.3_Silent_p.L372L|FRMPD2_ENST00000407470.4_Silent_p.L365L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	396	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTTCACTGTCCAGGAAAAAGA	0.468																																							uc001jgi.2		NA																	0				large_intestine(1)	1						c.(1186-1188)CTG>CTT		FERM and PDZ domain containing 2 isoform 3							73.0	68.0	70.0					10																	49431294		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49431294C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1188G>T	10.37:g.49431294C>A						FRMPD2_uc001jgh.2_Silent_p.L365L|FRMPD2_uc001jgj.2_Silent_p.L374L	p.L396L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	11	1295	-			396			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.1188G>T	CCDS31195.1																																																																																				0.468	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		33	32	1	0	9.65021e-13	0.002096	1.23681e-12	33	32				
LRRC18	474354	broad.mit.edu	37	10	50121911	50121911	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50121911C>T	ENST00000374160.3	-	1	366	c.290G>A	c.(289-291)aGc>aAc	p.S97N	LRRC18_ENST00000298124.3_Missense_Mutation_p.S97N|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	97						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTAGAGCAGGCTGGTCATCTG	0.567																																							uc001jhd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(289-291)AGC>AAC		leucine rich repeat containing 18							97.0	82.0	87.0					10																	50121911		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121911C>T	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.290G>A	10.37:g.50121911C>T	ENSP00000363275:p.Ser97Asn					WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.S97N	p.S97N	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			1	370	-			97			LRR 4.		Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.290G>A	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	C	6.503	0.461019	0.12342	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.07444	3.19;3.19	6.07	1.93	0.25924	.	0.857508	0.10787	N	0.634209	T	0.04588	0.0125	N	0.05619	-0.005	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.45934	-0.9227	9	.	.	.	.	10.4614	0.44581	0.0:0.5025:0.2425:0.255	.	97	Q8N456	LRC18_HUMAN	N	97	ENSP00000363275:S97N;ENSP00000298124:S97N	.	S	-	2	0	LRRC18	49791917	0.000000	0.05858	0.924000	0.36721	0.842000	0.47809	0.343000	0.19944	0.416000	0.25844	-0.136000	0.14681	AGC		0.567	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		20	20	0	0	0	0.008871	0	20	20				
VSTM4	196740	broad.mit.edu	37	10	50272760	50272760	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50272760C>A	ENST00000332853.4	-	5	679	c.656G>T	c.(655-657)tGc>tTc	p.C219F		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTTCTGAGGGCATTTCACCAA	0.308																																							uc001jhf.2		NA																	0					0						c.(655-657)TGC>TTC		hypothetical protein LOC196740 isoform 1							95.0	97.0	97.0					10																	50272760		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50272760C>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.656G>T	10.37:g.50272760C>A	ENSP00000331062:p.Cys219Phe						p.C219F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			5	685	-			219			Cytoplasmic (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.656G>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986900	0.35036	.	.	ENSG00000165633	ENST00000332853	T	0.08102	3.13	5.4	5.4	0.78164	.	0.101165	0.64402	D	0.000002	T	0.07773	0.0195	N	0.14661	0.345	0.80722	D	1	P	0.45348	0.856	P	0.44477	0.451	T	0.21449	-1.0245	10	0.54805	T	0.06	-21.2806	14.5479	0.68044	0.0:1.0:0.0:0.0	.	219	Q8IW00	VSTM4_HUMAN	F	219	ENSP00000331062:C219F	ENSP00000331062:C219F	C	-	2	0	VSTM4	49942766	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.390000	0.44416	2.822000	0.97130	0.650000	0.86243	TGC		0.308	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		23	34	1	0	2.21704e-12	0.00278	2.82089e-12	23	34				
C10orf128	170371	broad.mit.edu	37	10	50374978	50374978	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50374978C>G	ENST00000474718.1	-	3	196	c.174G>C	c.(172-174)atG>atC	p.M58I	C10orf128_ENST00000374153.2_Missense_Mutation_p.M58I|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374151.3_Missense_Mutation_p.M58I|C10orf128_ENST00000374148.1_Missense_Mutation_p.M58I	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	58						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						GCCTCCTGATCATGCAGATCT	0.577																																							uc001jhn.3		NA																	0				lung(1)	1						c.(172-174)ATG>ATC		hypothetical protein LOC170371 precursor							69.0	75.0	73.0					10																	50374978		2081	4201	6282	SO:0001583	missense	170371					integral to membrane		g.chr10:50374978C>G	BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.174G>C	10.37:g.50374978C>G	ENSP00000417246:p.Met58Ile					C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Missense_Mutation_p.M58I|C10orf128_uc010qgo.1_Missense_Mutation_p.M58I|C10orf128_uc001jho.3_Missense_Mutation_p.M58I	p.M58I	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN			3	200	-			58			Helical; (Potential).		A6XND2|Q5T289|Q5T291	Missense_Mutation	SNP	ENST00000474718.1	37	c.174G>C	CCDS41519.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865525	0.32977	.	.	ENSG00000204161	ENST00000374153;ENST00000474718;ENST00000453436;ENST00000374149;ENST00000374151;ENST00000374148	T;T;T;T;T	0.55413	0.55;0.61;0.55;0.52;0.53	4.23	2.27	0.28462	.	0.713727	0.11490	N	0.558819	T	0.38612	0.1047	L	0.34521	1.04	0.29793	N	0.833058	B;B;B;B	0.25312	0.123;0.123;0.017;0.123	B;B;B;B	0.16289	0.015;0.015;0.005;0.015	T	0.37337	-0.9710	10	0.87932	D	0	.	6.8414	0.23965	0.2018:0.6031:0.1952:0.0	.	58;58;58;58	Q5T292-2;Q5T292-3;Q5T292;Q5T292-4	.;.;CJ128_HUMAN;.	I	58;58;50;52;58;58	ENSP00000363268:M58I;ENSP00000417246:M58I;ENSP00000395067:M50I;ENSP00000363266:M58I;ENSP00000363263:M58I	ENSP00000363263:M58I	M	-	3	0	C10orf128	50044984	1.000000	0.71417	0.993000	0.49108	0.569000	0.35902	1.899000	0.39818	0.390000	0.25115	0.471000	0.43371	ATG		0.577	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047978.1	NM_001010863		16	43	0	0	0	0.004007	0	16	43				
PGBD3	267004	broad.mit.edu	37	10	50723798	50723798	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50723798C>A	ENST00000374127.3	-	2	1564	c.1363G>T	c.(1363-1365)Gtg>Ttg	p.V455L	PGBD3_ENST00000603152.1_Missense_Mutation_p.V923L|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.V923L|PGBD3_ENST00000508005.2_Missense_Mutation_p.V455L|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.V923L	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	455										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGGTTATACACTTTGATCATG	0.438																																							uc001jht.2		NA																	0				pancreas(1)|breast(1)|skin(1)	3						c.(1363-1365)GTG>TTG		hypothetical protein LOC267004							184.0	171.0	175.0					10																	50723798		2203	4300	6503	SO:0001583	missense	267004							g.chr10:50723798C>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1363G>T	10.37:g.50723798C>A	ENSP00000363242:p.Val455Leu					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.V923L|PGBD3_uc001jhu.2_Missense_Mutation_p.V923L	p.V455L	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	1618	-			455					B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1363G>T	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	6.604	0.479870	0.12581	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	0.468	0.468	0.16732	.	.	.	.	.	T	0.05227	0.0139	N	0.01576	-0.805	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.0	T	0.42189	-0.9466	8	0.22109	T	0.4	-14.2252	.	.	.	.	923;455	E7EV46;Q8N328	.;PGBD3_HUMAN	L	455;455;923;923	ENSP00000363242:V455L;ENSP00000426963:V455L;ENSP00000423550:V923L;ENSP00000387966:V923L	ENSP00000387966:V923L	V	-	1	0	PGBD3;RP11-123B3.6	50393804	0.044000	0.20184	0.920000	0.36463	0.911000	0.54048	-0.036000	0.12185	0.488000	0.27723	0.491000	0.48974	GTG		0.438	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			100	54	1	0	1.85599e-38	0.00361	3.25134e-38	100	54				
OGDHL	55753	broad.mit.edu	37	10	50964944	50964944	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:50964944A>T	ENST00000374103.4	-	3	338	c.253T>A	c.(253-255)Tct>Act	p.S85T	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	85					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCTGAGCAGAGCCAGAAAAG	0.587																																							uc001jie.2		NA																	0				pancreas(1)	1						c.(253-255)TCT>ACT		oxoglutarate dehydrogenase-like isoform a							82.0	82.0	82.0					10																	50964944		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50964944A>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.253T>A	10.37:g.50964944A>T	ENSP00000363216:p.Ser85Thr					OGDHL_uc009xog.2_Missense_Mutation_p.S112T|OGDHL_uc010qgt.1_Intron|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_5'UTR	p.S85T	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			3	395	-			85					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.253T>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505033	0.26949	.	.	ENSG00000197444	ENST00000374103	T	0.44083	0.93	4.77	1.4	0.22301	.	1.786630	0.03019	N	0.150524	T	0.21427	0.0516	N	0.04805	-0.155	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.15780	-1.0425	10	0.13108	T	0.6	.	5.0145	0.14330	0.2096:0.3097:0.4807:0.0	.	85	Q9ULD0	OGDHL_HUMAN	T	85	ENSP00000363216:S85T	ENSP00000363216:S85T	S	-	1	0	OGDHL	50634950	0.000000	0.05858	0.000000	0.03702	0.914000	0.54420	0.001000	0.13038	-0.022000	0.13986	0.482000	0.46254	TCT		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		28	30	0	0	0	0.00632	0	28	30				
PCDH15	65217	broad.mit.edu	37	10	55566820	55566820	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55566820C>G	ENST00000373965.2	-	36	4968	c.4574G>C	c.(4573-4575)aGt>aCt	p.S1525T	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1522T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	588					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCAGGAGCACTGTCTTCTCC	0.388										HNSCC(58;0.16)																													uc010qhq.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4567-4569)AGT>ACT		protocadherin 15 isoform CD3-1 precursor							62.0	57.0	59.0					10																	55566820		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566820C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4574G>C	10.37:g.55566820C>G	ENSP00000363076:p.Ser1525Thr	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Missense_Mutation_p.S1518T	p.S1523T	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	4963	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4568G>C		.	.	.	.	.	.	.	.	.	.	C	12.73	2.024375	0.35701	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.67523	-0.27;-0.25	5.86	5.86	0.93980	.	.	.	.	.	T	0.61862	0.2381	L	0.50333	1.59	0.80722	D	1	P;P	0.38020	0.615;0.615	B;B	0.29267	0.1;0.1	T	0.66806	-0.5830	9	0.87932	D	0	.	19.797	0.96490	0.0:1.0:0.0:0.0	.	1516;1522	C6ZEF7;C9J4F3	.;.	T	1525;1522;1518	ENSP00000363076:S1525T;ENSP00000410304:S1522T	ENSP00000363076:S1525T	S	-	2	0	PCDH15	55236826	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	5.747000	0.68689	2.776000	0.95493	0.655000	0.94253	AGT		0.388	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		7	25	0	0	0	0.001984	0	7	25				
PCDH15	65217	broad.mit.edu	37	10	55570367	55570367	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55570367C>A	ENST00000373965.2	-	35	4846	c.4452G>T	c.(4450-4452)gaG>gaT	p.E1484D	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1484D|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1112M|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1501M|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1481D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACCATATTCCTCCTGTCCAG	0.363										HNSCC(58;0.16)																													uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4465-4467)GAG>GAT		protocadherin 15 isoform CD2-1 precursor							178.0	164.0	168.0					10																	55570367		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55570367C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4452G>T	10.37:g.55570367C>A	ENSP00000363076:p.Glu1484Asp	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.E1482D|PCDH15_uc010qhr.1_Missense_Mutation_p.E1477D|PCDH15_uc010qht.1_Missense_Mutation_p.E1482D|PCDH15_uc010qhu.1_Missense_Mutation_p.R1501M	p.E1489D	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			36	4862	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4467G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.360|9.360	1.067662|1.067662	0.20067|0.20067	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395445|ENST00000395438;ENST00000409834	T;T;T|T;T	0.58358|0.59364	0.74;0.73;0.34|0.3;0.27	6.16|6.16	2.15|2.15	0.27550|0.27550	.|.	.|.	.|.	.|.	.|.	T|T	0.34077|0.34077	0.0885|0.0885	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B;B;B|B	0.14012|0.13145	0.009;0.009;0.005;0.005|0.007	B;B;B;B|B	0.10450|0.11329	0.005;0.005;0.003;0.003|0.006	T|T	0.15464|0.15464	-1.0436|-1.0436	9|9	0.22109|0.87932	T|D	0.4|0	.|.	3.9673|3.9673	0.09437|0.09437	0.2176:0.4873:0.0:0.2951|0.2176:0.4873:0.0:0.2951	.|.	1482;1484;1475;1481|1501	C6ZEF5;A2A3E2;C6ZEF7;C9J4F3|A2A3E3	.;.;.;.|.	D|M	1484;1481;1477;1484|1501;1112	ENSP00000363076:E1484D;ENSP00000410304:E1481D;ENSP00000378832:E1484D|ENSP00000378826:R1501M;ENSP00000386693:R1112M	ENSP00000363076:E1484D|ENSP00000378826:R1501M	E|R	-|-	3|2	2|0	PCDH15|PCDH15	55240373|55240373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.494000|0.494000	0.33585|0.33585	1.073000|1.073000	0.30691|0.30691	0.506000|0.506000	0.28125|0.28125	-0.127000|-0.127000	0.14921|0.14921	GAG|AGG		0.363	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		81	23	1	0	2.78983e-34	0.00361	4.78328e-34	81	23				
PCDH15	65217	broad.mit.edu	37	10	55591103	55591103	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55591103T>A	ENST00000320301.6	-	30	4568	c.4174A>T	c.(4174-4176)Atc>Ttc	p.I1392F	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1370F|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1399F|PCDH15_ENST00000373965.2_Missense_Mutation_p.I1399F|PCDH15_ENST00000409834.1_Missense_Mutation_p.I1003F|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1392F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1321F|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1392F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1392F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.I1397F|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1355F	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1392					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCACCAAGATGGCAGGAATG	0.463										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4174-4176)ATC>TTC		protocadherin 15 isoform CD1-4 precursor							240.0	208.0	219.0					10																	55591103		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591103T>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4174A>T	10.37:g.55591103T>A	ENSP00000322604:p.Ile1392Phe	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.I1397F|PCDH15_uc010qhr.1_Missense_Mutation_p.I1392F|PCDH15_uc010qhs.1_Missense_Mutation_p.I1404F|PCDH15_uc010qht.1_Missense_Mutation_p.I1399F|PCDH15_uc010qhu.1_Missense_Mutation_p.I1392F|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.I1392F|PCDH15_uc010qhw.1_Missense_Mutation_p.I1355F|PCDH15_uc010qhx.1_Missense_Mutation_p.I1321F|PCDH15_uc010qhy.1_Missense_Mutation_p.I1397F|PCDH15_uc010qhz.1_Missense_Mutation_p.I1392F|PCDH15_uc010qia.1_Missense_Mutation_p.I1370F|PCDH15_uc010qib.1_Missense_Mutation_p.I1370F	p.I1392F	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			30	4569	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1392			Helical; (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4174A>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258970	0.80246	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.62788	0.26;0.37;0.21;0.23;0.2;0.17;0.06;0.2;0.06;0.14;-0.0	5.87	3.54	0.40534	.	.	.	.	.	T	0.66509	0.2796	L	0.36672	1.1	0.80722	D	1	P;D;D;D;D;D;P;P;P;P;P;P;D	0.62365	0.923;0.991;0.991;0.991;0.981;0.991;0.923;0.865;0.955;0.955;0.92;0.92;0.991	P;D;D;D;D;D;P;P;P;P;P;P;D	0.63703	0.754;0.917;0.917;0.917;0.917;0.917;0.754;0.588;0.821;0.821;0.701;0.756;0.917	T	0.66392	-0.5935	9	0.87932	D	0	.	10.1888	0.43013	0.0:0.136:0.0:0.864	.	1370;1392;1392;1397;1321;1355;1392;1392;1399;1399;1392;1397;1392	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	F	1399;1397;1392;1392;1003;1399;1355;1392;1370;1392;1392;1397;1321	ENSP00000363076:I1399F;ENSP00000410304:I1397F;ENSP00000378826:I1392F;ENSP00000386693:I1003F;ENSP00000378832:I1399F;ENSP00000378820:I1355F;ENSP00000354950:I1392F;ENSP00000378821:I1370F;ENSP00000322604:I1392F;ENSP00000378818:I1392F;ENSP00000412628:I1321F	ENSP00000322604:I1392F	I	-	1	0	PCDH15	55261109	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.170000	0.64990	0.481000	0.27557	0.482000	0.46254	ATC		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		37	8	0	0	0	0.007835	0	37	8				
PCDH15	65217	broad.mit.edu	37	10	55912946	55912946	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:55912946G>T	ENST00000320301.6	-	14	2092	c.1698C>A	c.(1696-1698)acC>acA	p.T566T	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.T544T|PCDH15_ENST00000395445.1_Silent_p.T573T|PCDH15_ENST00000373965.2_Silent_p.T573T|PCDH15_ENST00000409834.1_Silent_p.T177T|PCDH15_ENST00000361849.3_Silent_p.T566T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.T566T|PCDH15_ENST00000395438.1_Silent_p.T566T|PCDH15_ENST00000373955.1_Silent_p.T566T|PCDH15_ENST00000373957.3_Silent_p.T544T|PCDH15_ENST00000395430.1_Silent_p.T566T|PCDH15_ENST00000395446.1_Silent_p.T566T|PCDH15_ENST00000414778.1_Silent_p.T571T|PCDH15_ENST00000395432.2_Silent_p.T529T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	566	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGGAGCGATGGTGATAAGCC	0.498										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1696-1698)ACC>ACA		protocadherin 15 isoform CD1-4 precursor							156.0	138.0	144.0					10																	55912946		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55912946G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1698C>A	10.37:g.55912946G>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.T571T|PCDH15_uc010qhr.1_Silent_p.T566T|PCDH15_uc010qhs.1_Silent_p.T578T|PCDH15_uc010qht.1_Silent_p.T573T|PCDH15_uc010qhu.1_Silent_p.T566T|PCDH15_uc001jjv.1_Silent_p.T544T|PCDH15_uc010qhv.1_Silent_p.T566T|PCDH15_uc010qhw.1_Silent_p.T529T|PCDH15_uc010qhx.1_Silent_p.T566T|PCDH15_uc010qhy.1_Silent_p.T571T|PCDH15_uc010qhz.1_Silent_p.T566T|PCDH15_uc010qia.1_Silent_p.T544T|PCDH15_uc010qib.1_Silent_p.T544T|PCDH15_uc001jjw.2_Silent_p.T566T	p.T566T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			14	2093	-		Melanoma(3;0.117)|Lung SC(717;0.238)	566			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.1698C>A	CCDS7248.1																																																																																				0.498	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		42	9	1	0	4.67007e-22	0.00874	7.12858e-22	42	9				
NEUROG3	50674	broad.mit.edu	37	10	71332416	71332416	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:71332416G>T	ENST00000242462.4	-	2	413	c.384C>A	c.(382-384)gcC>gcA	p.A128A		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	128	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TGTAGTTGTGGGCGAAGCGCA	0.662																																							uc001jpp.2		NA																	0					0						c.(382-384)GCC>GCA		neurogenin 3							82.0	71.0	75.0					10																	71332416		2203	4300	6503	SO:0001819	synonymous_variant	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332416G>T	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.384C>A	10.37:g.71332416G>T							p.A128A	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	542	-			128			Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	ENST00000242462.4	37	c.384C>A	CCDS31212.1																																																																																				0.662	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		29	3	1	0	1.39806e-14	0.008361	1.85576e-14	29	3				
ADAMTS14	140766	broad.mit.edu	37	10	72520564	72520564	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:72520564G>C	ENST00000373207.1	+	22	3627	c.3627G>C	c.(3625-3627)ctG>ctC	p.L1209L	ADAMTS14_ENST00000373208.1_Silent_p.L1212L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1209	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGAAGACCTGAGACATCCCG	0.642																																							uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3625-3627)CTG>CTC		ADAM metallopeptidase with thrombospondin type 1							59.0	56.0	57.0					10																	72520564		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72520564G>C	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3627G>C	10.37:g.72520564G>C						ADAMTS14_uc001jrg.2_Silent_p.L1212L	p.L1209L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			22	3627	+			1209			Pro-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.3627G>C	CCDS7306.1																																																																																				0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		25	8	0	0	0	0.005443	0	25	8				
UNC5B	219699	broad.mit.edu	37	10	73050686	73050686	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:73050686G>T	ENST00000335350.6	+	9	1530	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W	UNC5B_ENST00000373192.4_Missense_Mutation_p.G361W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	372					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGAGGCCTCAGGGGATGCGGC	0.672																																							uc001jro.2		NA																	0				ovary(2)|lung(1)	3						c.(1114-1116)GGG>TGG		unc-5 homolog B precursor							116.0	122.0	120.0					10																	73050686		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050686G>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1114G>T	10.37:g.73050686G>T	ENSP00000334329:p.Gly372Trp					UNC5B_uc001jrp.2_Missense_Mutation_p.G361W	p.G372W	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			9	1559	+			372			Extracellular (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1114G>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988846	0.74589	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.52057	0.75;0.68	5.26	5.26	0.73747	.	0.223537	0.47093	D	0.000259	T	0.66426	0.2788	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.935	T	0.68864	-0.5296	10	0.72032	D	0.01	-30.6308	18.8547	0.92247	0.0:0.0:1.0:0.0	.	361;372	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	W	372;361	ENSP00000334329:G372W;ENSP00000362288:G361W	ENSP00000334329:G372W	G	+	1	0	UNC5B	72720692	1.000000	0.71417	0.479000	0.27329	0.520000	0.34377	7.963000	0.87922	2.466000	0.83321	0.563000	0.77884	GGG		0.672	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		131	38	1	0	1.5108e-63	0.00361	2.80951e-63	131	38				
SPOCK2	9806	broad.mit.edu	37	10	73826741	73826741	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:73826741G>A	ENST00000373109.2	-	8	1291	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	SPOCK2_ENST00000536168.1_Missense_Mutation_p.R283C|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.R283C	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	283					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGAAGGGACGGATGCAGACC	0.587																																							uc001jso.1		NA																	0					0						c.(847-849)CGT>TGT		sparc/osteonectin, cwcv and kazal-like domains							135.0	122.0	126.0					10																	73826741		2203	4300	6503	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73826741G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.847C>T	10.37:g.73826741G>A	ENSP00000362201:p.Arg283Cys					SPOCK2_uc001jsp.2_Missense_Mutation_p.R283C	p.R283C	NM_014767	NP_055582	Q92563	TICN2_HUMAN			8	1292	-			283					C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.847C>T	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266338	0.80358	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.56275	0.47;0.47	5.02	5.02	0.67125	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.117908	0.64402	D	0.000019	T	0.74176	0.3682	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78398	-0.2219	10	0.87932	D	0	.	17.9455	0.89036	0.0:0.0:1.0:0.0	.	283	Q92563	TICN2_HUMAN	C	280;283;283	ENSP00000321108:R283C;ENSP00000439445:R283C	ENSP00000321108:R283C	R	-	1	0	SPOCK2	73496747	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.704000	0.61831	2.331000	0.79229	0.462000	0.41574	CGT		0.587	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			28	44	0	0	0	0.005443	0	28	44				
KCNMA1	3778	broad.mit.edu	37	10	78832898	78832898	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:78832898G>T	ENST00000286628.8	-	14	1705	c.1706C>A	c.(1705-1707)tCc>tAc	p.S569Y	KCNMA1_ENST00000354353.5_Missense_Mutation_p.S569Y|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S569Y|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S569Y|KCNMA1_ENST00000286627.5_Missense_Mutation_p.S569Y|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S569Y|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S569Y|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S569Y	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	569	Segment S7.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AAGCATGGTGGAGAGGCCTTG	0.507																																							uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1705-1707)TCC>TAC		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						117.0	94.0	102.0					10																	78832898		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78832898G>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1706C>A	10.37:g.78832898G>T	ENSP00000286628:p.Ser569Tyr					KCNMA1_uc001jxj.2_Missense_Mutation_p.S569Y|KCNMA1_uc001jxk.1_Missense_Mutation_p.S184Y|KCNMA1_uc009xrt.1_Missense_Mutation_p.S389Y|KCNMA1_uc001jxl.1_Missense_Mutation_p.S223Y|KCNMA1_uc001jxo.2_Missense_Mutation_p.S569Y|KCNMA1_uc001jxm.2_Missense_Mutation_p.S569Y|KCNMA1_uc001jxq.2_Missense_Mutation_p.S569Y	p.S569Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		14	1883	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		569			Segment S7.|Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1706C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.951907|3.951907	0.73787|0.73787	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403;ENST00000428546|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|T;T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.87|5.87	4.97|4.97	0.65823|0.65823	.|Potassium channel, calcium-activated, BK, alpha subunit (2);NAD(P)-binding domain (1);	.|0.113360	.|0.64402	.|D	.|0.000006	T|T	0.70228|0.70228	0.3200|0.3200	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.995;0.996;0.993;0.999;0.995;0.997;0.994;0.996	T|T	0.75531|0.75531	-0.3285|-0.3285	5|10	.|0.87932	.|D	.|0	-8.7869|-8.7869	16.5067|16.5067	0.84274|0.84274	0.0:0.0:0.8682:0.1318|0.0:0.0:0.8682:0.1318	.|.	.|569;569;569;569;569;351;569;569	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	T|Y	520;53|569;506;504;543;506;569;569;543;569;569;569;351	.|ENSP00000361517:S569Y;ENSP00000361485:S506Y;ENSP00000361514:S504Y;ENSP00000396608:S543Y;ENSP00000361520:S569Y;ENSP00000286627:S569Y;ENSP00000385552:S569Y;ENSP00000346321:S569Y;ENSP00000385806:S569Y	.|ENSP00000286627:S569Y	P|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78502904|78502904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	1.481000|1.481000	0.48307|0.48307	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.507	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		24	5	1	0	7.87624e-14	0.00278	1.02854e-13	24	5				
ZMIZ1	57178	broad.mit.edu	37	10	80976007	80976007	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:80976007G>A	ENST00000334512.5	+	7	828	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	86					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCAAACCGAGACAAGTTCAC	0.597																																							uc001kaf.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(256-258)GAC>AAC		retinoic acid induced 17							100.0	78.0	85.0					10																	80976007		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:80976007G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.256G>A	10.37:g.80976007G>A	ENSP00000334474:p.Asp86Asn					ZMIZ1_uc001kae.2_Missense_Mutation_p.D86N	p.D86N	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		7	828	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		86					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.256G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513904	0.96402	.	.	ENSG00000108175	ENST00000334512;ENST00000394592	T	0.34275	1.37	5.3	5.3	0.74995	.	0.000000	0.34959	N	0.003560	T	0.59404	0.2191	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.87578	0.956;0.998	T	0.60717	-0.7208	10	0.66056	D	0.02	-22.5125	18.0744	0.89423	0.0:0.0:1.0:0.0	.	86;86	Q9ULJ6;A0JLS3	ZMIZ1_HUMAN;.	N	86	ENSP00000334474:D86N	ENSP00000334474:D86N	D	+	1	0	ZMIZ1	80646013	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.879000	0.92398	2.632000	0.89209	0.563000	0.77884	GAC		0.597	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		16	4	0	0	0	0.00499	0	16	4				
GRID1	2894	broad.mit.edu	37	10	87379728	87379728	+	Silent	SNP	C	C	T	rs142646668		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:87379728C>T	ENST00000327946.7	-	14	2341	c.2256G>A	c.(2254-2256)acG>acA	p.T752T	GRID1_ENST00000536331.1_Silent_p.T323T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	752					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGTCGTCATCCGTCAGGGCTG	0.567										Multiple Myeloma(13;0.14)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		21624	0.0		0.0	False		,,,				2504	0.0						uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2254-2256)ACG>ACA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	C		4,4402	9.9+/-24.2	0,4,2199	136.0	97.0	111.0		2256	-9.4	0.0	10	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRID1	NM_017551.2		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		752/1010	87379728	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87379728C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2256G>A	10.37:g.87379728C>T		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Silent_p.T323T	p.T752T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			14	2357	-			752			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2256G>A	CCDS31236.1																																																																																				0.567	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		41	7	0	0	0	0.002522	0	41	7				
PTEN	5728	broad.mit.edu	37	10	89653808	89653808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:89653808G>T	ENST00000371953.3	+	2	1463	c.106G>T	c.(106-108)Gga>Tga	p.G36*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in glioma). {ECO:0000269|PubMed:9090379}.|G -> R (in endometrial hyperplasia). {ECO:0000269|PubMed:9635567}.		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.?(8)|p.G36R(4)|p.Y27fs*1(2)|p.G36*(1)|p.A34_G36del(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)		TATTGCTATGGGATTTCCTGC	0.284		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.2		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		53	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(4)|Deletion - Frameshift(2)|Deletion - In frame(1)|Substitution - Nonsense(1)	p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1)	prostate(14)|central_nervous_system(12)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM004280	PTEN	M		c.(106-108)GGA>TGA		phosphatase and tensin homolog							108.0	109.0	108.0					10																	89653808		2203	4296	6499	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|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.chr10:89653808G>T	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.106G>T	10.37:g.89653808G>T	ENSP00000361021:p.Gly36*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G36*	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)	3	1137	+		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)	36		G -> R (in endometrial hyperplasia).|G -> E (in glioma).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.106G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	48	14.124719	0.99780	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2255	17.4682	0.87639	0.0:0.0:1.0:0.0	.	.	.	.	X	36	.	.	G	+	1	0	PTEN	89643788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.018000	0.93657	2.421000	0.82119	0.655000	0.94253	GGA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		24	6	1	0	2.79863e-10	0.004656	3.4235e-10	24	6				
LIPF	8513	broad.mit.edu	37	10	90429683	90429683	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:90429683A>T	ENST00000238983.4	+	5	558	c.512A>T	c.(511-513)cAt>cTt	p.H171L	LIPF_ENST00000394375.3_Missense_Mutation_p.H181L|LIPF_ENST00000608620.1_Missense_Mutation_p.H138L|LIPF_ENST00000355843.2_Missense_Mutation_p.H148L	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	171					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TATGTTGGCCATTCCCAGGGC	0.438																																							uc001kfg.1		NA																	0					0						c.(511-513)CAT>CTT		lipase, gastric precursor							217.0	202.0	207.0					10																	90429683		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90429683A>T	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.512A>T	10.37:g.90429683A>T	ENSP00000238983:p.His171Leu					LIPF_uc001kfh.1_Missense_Mutation_p.H148L|LIPF_uc010qmt.1_Missense_Mutation_p.H181L|LIPF_uc010qmu.1_Missense_Mutation_p.H138L	p.H171L	NM_004190	NP_004181	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	5	678	+		Colorectal(252;0.0161)	171					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.512A>T	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777509	0.70107	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.77489	-1.1;-1.1;-1.1	5.24	5.24	0.73138	Alpha/beta hydrolase fold-1 (1);	0.000000	0.56097	D	0.000024	D	0.92580	0.7643	H	0.98295	4.195	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.91635	0.982;0.998;0.982;0.999	D	0.95118	0.8244	10	0.87932	D	0	-30.5626	14.2637	0.66102	1.0:0.0:0.0:0.0	.	138;181;148;171	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	L	181;171;138	ENSP00000377900:H181L;ENSP00000238983:H171L;ENSP00000348101:H138L	ENSP00000238983:H171L	H	+	2	0	LIPF	90419663	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	8.620000	0.90943	2.194000	0.70268	0.528000	0.53228	CAT		0.438	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			130	33	0	0	0	0.00361	0	130	33				
TLL2	7093	broad.mit.edu	37	10	98157013	98157013	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98157013G>A	ENST00000357947.3	-	11	1539	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	438	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGAGCCGGCTGTCCGTGGAGA	0.577																																							uc001kml.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1312-1314)GAC>GAT		tolloid-like 2 precursor							61.0	53.0	56.0					10																	98157013		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157013G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1314C>T	10.37:g.98157013G>A						TLL2_uc009xvf.1_Silent_p.D416D	p.D438D	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1540	-		Colorectal(252;0.0846)	438			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.1314C>T	CCDS7449.1																																																																																				0.577	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			26	8	0	0	0	0.00333	0	26	8				
TLL2	7093	broad.mit.edu	37	10	98170154	98170154	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98170154G>T	ENST00000357947.3	-	9	1351	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	376	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CAGACGCAGTGGGAGTAAGAT	0.567																																							uc001kml.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1126-1128)CAC>AAC		tolloid-like 2 precursor							88.0	83.0	85.0					10																	98170154		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98170154G>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1126C>A	10.37:g.98170154G>T	ENSP00000350630:p.His376Asn					TLL2_uc009xvf.1_Missense_Mutation_p.H354N	p.H376N	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	9	1352	-		Colorectal(252;0.0846)	376			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1126C>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686034	0.88639	.	.	ENSG00000095587	ENST00000357947	T	0.16597	2.33	5.4	5.4	0.78164	CUB (5);	0.000000	0.47852	D	0.000207	T	0.23572	0.0570	N	0.16201	0.385	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	T	0.06338	-1.0832	10	0.10111	T	0.7	.	18.5289	0.90984	0.0:0.0:1.0:0.0	.	376	Q9Y6L7	TLL2_HUMAN	N	376	ENSP00000350630:H376N	ENSP00000350630:H376N	H	-	1	0	TLL2	98160144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.775000	0.85489	2.711000	0.92665	0.561000	0.74099	CAC		0.567	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			22	8	1	0	1.10923e-09	0.00278	1.33494e-09	22	8				
PIK3AP1	118788	broad.mit.edu	37	10	98411116	98411116	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98411116T>C	ENST00000339364.5	-	6	996	c.877A>G	c.(877-879)Aac>Gac	p.N293D	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.N115D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	293	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.N293Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCTCTGTGTTGTAGGGCACA	0.448																																							uc001kmq.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(877-879)AAC>GAC		phosphoinositide-3-kinase adaptor protein 1							145.0	146.0	146.0					10																	98411116		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98411116T>C	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.877A>G	10.37:g.98411116T>C	ENSP00000339826:p.Asn293Asp					PIK3AP1_uc001kmp.2_Missense_Mutation_p.N115D	p.N293D	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	6	1005	-		Colorectal(252;0.0442)	293			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.877A>G	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241919	0.22796	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.16457	3.02;2.34	5.85	5.85	0.93711	DBB domain (1);	0.267468	0.43919	D	0.000512	T	0.10078	0.0247	N	0.16790	0.44	0.80722	D	1	B	0.25955	0.138	B	0.21917	0.037	T	0.05649	-1.0872	10	0.02654	T	1	-31.0417	15.4167	0.74974	0.0:0.0:0.0:1.0	.	293	Q6ZUJ8	BCAP_HUMAN	D	293;115	ENSP00000339826:N293D;ENSP00000360151:N115D	ENSP00000339826:N293D	N	-	1	0	PIK3AP1	98401106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.988000	0.40697	2.238000	0.73509	0.533000	0.62120	AAC		0.448	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		15	22	0	0	0	0.003163	0	15	22				
C10orf12	26148	broad.mit.edu	37	10	98741316	98741316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:98741316G>T	ENST00000286067.2	+	1	276	c.169G>T	c.(169-171)Gag>Tag	p.E57*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	57										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCTGACAAAGAGAATACTTT	0.413																																							uc001kmv.2		NA																	0				skin(2)	2						c.(169-171)GAG>TAG		hypothetical protein LOC26148							83.0	79.0	80.0					10																	98741316		2203	4300	6503	SO:0001587	stop_gained	26148							g.chr10:98741316G>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.169G>T	10.37:g.98741316G>T	ENSP00000286067:p.Glu57*					C10orf12_uc009xvg.1_Nonsense_Mutation_p.E367*	p.E57*	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	276	+		Colorectal(252;0.172)	57					Q9H945|Q9Y457	Nonsense_Mutation	SNP	ENST00000286067.2	37	c.169G>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013592	0.75161	.	.	ENSG00000155640	ENST00000286067	.	.	.	5.95	5.04	0.67666	.	0.000000	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.2843	15.3447	0.74327	0.067:0.0:0.933:0.0	.	.	.	.	X	57	.	ENSP00000286067:E57X	E	+	1	0	C10orf12	98731306	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	6.752000	0.74898	1.524000	0.49035	0.655000	0.94253	GAG		0.413	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		14	24	1	0	0.00244969	0.00245	0.00253897	14	24				
ABCC2	1244	broad.mit.edu	37	10	101610458	101610458	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:101610458A>G	ENST00000370449.4	+	31	4526	c.4413A>G	c.(4411-4413)acA>acG	p.T1471T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1471	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|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)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATCTAGAGACAGACAACCTCA	0.572																																							uc001kqf.2		NA																	0				ovary(1)	1						c.(4411-4413)ACA>ACG		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						139.0	114.0	123.0					10																	101610458		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101610458A>G	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4413A>G	10.37:g.101610458A>G							p.T1471T	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	31	4552	+		Colorectal(252;0.234)	1471			Cytoplasmic (By similarity).|ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.4413A>G	CCDS7484.1																																																																																				0.572	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		50	22	0	0	0	0.00361	0	50	22				
PKD2L1	9033	broad.mit.edu	37	10	102054763	102054763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:102054763C>T	ENST00000318222.3	-	8	1856	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A417T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A492T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	492					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCGAGTTGGGCATAGGCGAAG	0.547																																							uc001kqx.1		NA																	0				ovary(4)	4						c.(1474-1476)GCC>ACC		polycystic kidney disease 2-like 1							136.0	128.0	131.0					10																	102054763		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054763C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1474G>A	10.37:g.102054763C>T	ENSP00000325296:p.Ala492Thr					PKD2L1_uc009xwm.1_Missense_Mutation_p.A445T	p.A492T	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	8	1857	-		Colorectal(252;0.117)	492			Helical; (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1474G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667166	0.96745	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.98400	-4.91;-4.91;-4.91	5.93	5.93	0.95920	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.992	D	0.99278	1.0895	10	0.45353	T	0.12	-19.1782	19.3319	0.94293	0.0:1.0:0.0:0.0	.	445;492	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	T	417;492;492;490	ENSP00000345068:A417T;ENSP00000266049:A492T;ENSP00000325296:A492T	ENSP00000325296:A492T	A	-	1	0	PKD2L1	102044753	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.764000	0.85297	2.815000	0.96918	0.561000	0.74099	GCC		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		44	6	0	0	0	0.00874	0	44	6				
KAZALD1	81621	broad.mit.edu	37	10	102822830	102822830	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:102822830A>T	ENST00000370200.5	+	2	807	c.481A>T	c.(481-483)Act>Tct	p.T161S	RP11-108L7.15_ENST00000609242.1_lincRNA	NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	161	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TGCCAACCTCACTGTGGCACA	0.692																																							uc001ksr.2		NA																	0					0						c.(481-483)ACT>TCT		Kazal-type serine peptidase inhibitor domain 1							10.0	13.0	12.0					10																	102822830		2167	4222	6389	SO:0001583	missense	81621				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding	g.chr10:102822830A>T	AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.481A>T	10.37:g.102822830A>T	ENSP00000359219:p.Thr161Ser					KAZALD1_uc001kss.3_RNA|KAZALD1_uc001kst.1_Missense_Mutation_p.T161S	p.T161S	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	2	1406	+			161			Kazal-like.		D3DR74|Q6ZMB1|Q9BQ73	Missense_Mutation	SNP	ENST00000370200.5	37	c.481A>T	CCDS7509.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053784	0.36277	.	.	ENSG00000107821	ENST00000313664;ENST00000370200	T	0.74106	-0.81	4.9	4.9	0.64082	Proteinase inhibitor I1, Kazal (2);	0.414749	0.27223	N	0.020354	T	0.63558	0.2521	L	0.28400	0.85	0.41751	D	0.989668	B	0.11235	0.004	B	0.12837	0.008	T	0.59247	-0.7490	10	0.27785	T	0.31	-0.4927	14.6936	0.69103	1.0:0.0:0.0:0.0	.	161	Q96I82	KAZD1_HUMAN	S	161	ENSP00000359219:T161S	ENSP00000313288:T161S	T	+	1	0	KAZALD1	102812820	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.662000	0.61525	2.071000	0.62044	0.454000	0.30748	ACT		0.692	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049891.2	NM_030929		26	9	0	0	0	0.004656	0	26	9				
FBXW4	6468	broad.mit.edu	37	10	103372211	103372211	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:103372211C>A	ENST00000331272.7	-	7	1478	c.860G>T	c.(859-861)gGc>gTc	p.G287V	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	287					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AAAGTCACTGCCCAAGTGTGT	0.562																																							uc001kto.2		NA																	0				skin(1)	1						c.(859-861)GGC>GTC		F-box and WD repeat domain containing 4							157.0	136.0	143.0					10																	103372211		2203	4300	6503	SO:0001583	missense	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103372211C>A	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.860G>T	10.37:g.103372211C>A	ENSP00000359149:p.Gly287Val						p.G287V	NM_022039	NP_071322	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	7	1206	-		Colorectal(252;0.123)	287					Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	c.860G>T	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327334	0.81690	.	.	ENSG00000107829	ENST00000331272;ENST00000389046	T	0.17370	2.28	4.28	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05084	-1.0907	10	0.30078	T	0.28	-18.6154	16.8962	0.86101	0.0:1.0:0.0:0.0	.	287	P57775	FBXW4_HUMAN	V	287	ENSP00000359149:G287V	ENSP00000359149:G287V	G	-	2	0	FBXW4	103362201	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.353000	0.66034	2.207000	0.71202	0.313000	0.20887	GGC		0.562	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		51	11	1	0	8.99859e-20	0.00361	1.31743e-19	51	11				
CFAP58	159686	broad.mit.edu	37	10	106207461	106207461	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:106207461G>T	ENST00000369704.3	+	16	2396	c.2262G>T	c.(2260-2262)aaG>aaT	p.K754N		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		754						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAGGAAAAGGAGAAACTCT	0.542																																							uc001kyh.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(2260-2262)AAG>AAT		coiled-coil domain containing 147							72.0	71.0	72.0					10																	106207461		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106207461G>T																												ENST00000369704.3:c.2262G>T	10.37:g.106207461G>T	ENSP00000358718:p.Lys754Asn						p.K754N	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	16	2396	+		Colorectal(252;0.103)|Breast(234;0.122)	754			Potential.		D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.2262G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644611	0.67358	.	.	ENSG00000120051	ENST00000369704	T	0.51817	0.69	5.24	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66763	-0.5841	10	0.17832	T	0.49	-26.477	9.7308	0.40359	0.2435:0.0:0.7565:0.0	.	754	Q5T655	CC147_HUMAN	N	754	ENSP00000358718:K754N	ENSP00000358718:K754N	K	+	3	2	CCDC147	106197451	0.999000	0.42202	1.000000	0.80357	0.958000	0.62258	0.467000	0.22035	0.493000	0.27837	0.655000	0.94253	AAG		0.542	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			60	11	1	0	1.64573e-32	0.00361	2.78953e-32	60	11				
SORCS1	114815	broad.mit.edu	37	10	108521397	108521397	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:108521397C>A	ENST00000263054.6	-	5	915	c.908G>T	c.(907-909)gGg>gTg	p.G303V	SORCS1_ENST00000344440.6_Missense_Mutation_p.G303V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	303					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCATCTTCTCCCAAATTCAGC	0.373																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(907-909)GGG>GTG		SORCS receptor 1 isoform a							138.0	120.0	126.0					10																	108521397		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108521397C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.908G>T	10.37:g.108521397C>A	ENSP00000263054:p.Gly303Val					SORCS1_uc001kyl.2_Missense_Mutation_p.G303V|SORCS1_uc009xxs.2_Missense_Mutation_p.G303V|SORCS1_uc001kyn.1_Missense_Mutation_p.G303V|SORCS1_uc001kyo.2_Missense_Mutation_p.G303V	p.G303V	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	5	916	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	303			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.908G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259773	0.80246	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	D;D	0.87256	-2.23;-2.23	5.97	5.97	0.96955	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.93478	0.7919	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.83275	0.991;0.996;0.996;0.991;0.996	D	0.93149	0.6548	9	.	.	.	-24.6778	15.9389	0.79739	0.0:1.0:0.0:0.0	.	303;303;303;303;303	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	303	ENSP00000263054:G303V;ENSP00000345964:G303V	.	G	-	2	0	SORCS1	108511387	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.736000	0.68597	2.836000	0.97738	0.655000	0.94253	GGG		0.373	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		18	2	1	0	1.50039e-11	0.001882	1.88181e-11	18	2				
ATRNL1	26033	broad.mit.edu	37	10	116919881	116919881	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:116919881G>T	ENST00000355044.3	+	6	1036	c.910G>T	c.(910-912)Ggt>Tgt	p.G304C	ATRNL1_ENST00000527407.1_Missense_Mutation_p.G304C|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	304					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCCTTCTGTAGGTCGGGCTTC	0.368																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(910-912)GGT>TGT		attractin-like 1 precursor							203.0	210.0	208.0					10																	116919881		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116919881G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.910G>T	10.37:g.116919881G>T	ENSP00000347152:p.Gly304Cys					ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.G304C|ATRNL1_uc009xyq.2_Missense_Mutation_p.G304C	p.G304C	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	6	1296	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	304			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.910G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072422	0.76415	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.68479	1.15;-0.33	5.83	5.83	0.93111	.	0.147316	0.64402	D	0.000010	T	0.75221	0.3820	L	0.58101	1.795	0.80722	D	1	D;D;D	0.71674	0.997;0.975;0.998	P;P;P	0.60415	0.751;0.671;0.874	T	0.76408	-0.2970	10	0.62326	D	0.03	-24.2295	12.591	0.56443	0.0758:0.0:0.9242:0.0	.	237;304;304	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	C	237;304	ENSP00000431423:G237C;ENSP00000347152:G304C	ENSP00000347152:G304C	G	+	1	0	ATRNL1	116909871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	2.763000	0.94921	0.555000	0.69702	GGT		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		119	19	1	0	2.09629e-50	0.00361	3.82474e-50	119	19				
CCDC172	374355	broad.mit.edu	37	10	118117397	118117397	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:118117397G>T	ENST00000333254.3	+	7	851	c.600G>T	c.(598-600)gaG>gaT	p.E200D		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	200																	AATATCTAGAGGCAGAAAAAA	0.274																																							uc001lck.2		NA																	0				ovary(2)	2						c.(598-600)GAG>GAT		hypothetical protein LOC374355							47.0	50.0	49.0					10																	118117397		2199	4284	6483	SO:0001583	missense	374355							g.chr10:118117397G>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.600G>T	10.37:g.118117397G>T	ENSP00000329860:p.Glu200Asp						p.E200D	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	7	851	+		Lung NSC(174;0.204)|all_lung(145;0.248)	200						Missense_Mutation	SNP	ENST00000333254.3	37	c.600G>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525077	0.64747	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.38	3.53	0.40419	.	0.123761	0.53938	D	0.000042	T	0.52175	0.1718	M	0.71581	2.175	0.33449	D	0.583456	D	0.55385	0.971	P	0.50934	0.654	T	0.65096	-0.6251	9	0.62326	D	0.03	-30.2684	6.6193	0.22794	0.4032:0.0:0.5968:0.0	.	200	P0C7W6	CJ096_HUMAN	D	200	.	ENSP00000329860:E200D	E	+	3	2	C10orf96	118107387	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.900000	0.28431	0.658000	0.30925	0.655000	0.94253	GAG		0.274	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		7	6	1	0	0.00198382	0.001984	0.00205832	7	6				
HSPA12A	259217	broad.mit.edu	37	10	118464761	118464761	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:118464761T>G	ENST00000369209.3	-	3	259	c.155A>C	c.(154-156)cAg>cCg	p.Q52P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	52						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AAATGACTGCTGTTCTGAGAC	0.577																																							uc001lct.2		NA																	0				ovary(1)	1						c.(154-156)CAG>CCG		heat shock 70kDa protein 12A							179.0	191.0	187.0					10																	118464761		2154	4269	6423	SO:0001583	missense	259217						ATP binding	g.chr10:118464761T>G	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.155A>C	10.37:g.118464761T>G	ENSP00000358211:p.Gln52Pro					HSPA12A_uc001lcu.2_5'UTR	p.Q52P	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	3	260	-			52						Missense_Mutation	SNP	ENST00000369209.3	37	c.155A>C	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748370	0.30955	.	.	ENSG00000165868	ENST00000369209	T	0.44881	0.91	5.93	5.93	0.95920	.	0.279939	0.40302	N	0.001124	T	0.31231	0.0790	N	0.21373	0.66	0.42532	D	0.993049	B	0.02656	0.0	B	0.04013	0.001	T	0.09015	-1.0694	10	0.21540	T	0.41	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	52	O43301	HS12A_HUMAN	P	52	ENSP00000358211:Q52P	ENSP00000358211:Q52P	Q	-	2	0	HSPA12A	118454751	1.000000	0.71417	0.985000	0.45067	0.297000	0.27493	4.133000	0.57983	2.265000	0.75225	0.533000	0.62120	CAG		0.577	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		35	69	0	0	0	0.004878	0	35	69				
HSPA12A	259217	broad.mit.edu	37	10	118464790	118464790	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:118464790C>A	ENST00000369209.3	-	3	231		c.e3-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A							extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAGTGTCGTTCTGCAGATATA	0.582																																							uc001lct.2		NA																	0				ovary(1)	1						c.e3-1		heat shock 70kDa protein 12A							158.0	169.0	165.0					10																	118464790		2141	4266	6407	SO:0001630	splice_region_variant	259217						ATP binding	g.chr10:118464790C>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.127-1G>T	10.37:g.118464790C>A						HSPA12A_uc001lcu.2_Splice_Site	p.N43_splice	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	3	232	-									Splice_Site	SNP	ENST00000369209.3	37	c.127_splice	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397606	0.42512	.	.	ENSG00000165868	ENST00000369209	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA12A	118454780	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	5.920000	0.70017	2.808000	0.96608	0.655000	0.94253	.		0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	Intron	77	24	1	0	9.90312e-32	0.00361	1.67272e-31	77	24				
SEC23IP	11196	broad.mit.edu	37	10	121662451	121662451	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:121662451A>G	ENST00000369075.3	+	3	909	c.837A>G	c.(835-837)gtA>gtG	p.V279V	SEC23IP_ENST00000543134.1_Silent_p.V68V	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	279	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCAAGGAGGTAGAATACAAAC	0.418																																							uc001leu.1		NA																	0				ovary(3)	3						c.(835-837)GTA>GTG		Sec23-interacting protein p125							124.0	115.0	118.0					10																	121662451		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121662451A>G	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.837A>G	10.37:g.121662451A>G						SEC23IP_uc010qtc.1_Silent_p.V68V	p.V279V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	3	909	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	279			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.837A>G	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.428445	0.25726	.	.	ENSG00000107651	ENST00000442952	.	.	.	5.25	-3.12	0.05282	.	.	.	.	.	T	0.50171	0.1600	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45600	-0.9250	4	.	.	.	-7.4788	6.7651	0.23562	0.3482:0.2439:0.4079:0.0	.	.	.	.	G	45	.	.	R	+	1	2	SEC23IP	121652441	0.974000	0.33945	0.983000	0.44433	0.979000	0.70002	0.087000	0.14958	-0.491000	0.06697	0.533000	0.62120	AGA		0.418	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			40	10	0	0	0	0.00874	0	40	10				
DMBT1	1755	broad.mit.edu	37	10	124351009	124351009	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:124351009A>G	ENST00000338354.3	+	19	2258	c.2152A>G	c.(2152-2154)Atc>Gtc	p.I718V	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.I718V|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.I708V|DMBT1_ENST00000344338.3_Missense_Mutation_p.I708V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	718					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTTGTCGACCATCACGTTACC	0.438																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(2152-2154)ATC>GTC		deleted in malignant brain tumors 1 isoform b							445.0	312.0	355.0					10																	124351009		1941	4082	6023	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124351009A>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2152A>G	10.37:g.124351009A>G	ENSP00000342210:p.Ile718Val					DMBT1_uc001lgl.1_Missense_Mutation_p.I708V|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.I718V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	p.I718V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			19	2258	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	718					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2152A>G		.	.	.	.	.	.	.	.	.	.	A	0.032	-1.330988	0.01298	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.21932	2.0;1.98;2.0;1.98	1.26	-0.0601	0.13790	.	.	.	.	.	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P;B;B	0.48911	0.917;0.079;0.0	P;B;B	0.45639	0.488;0.045;0.0	T	0.14117	-1.0484	9	0.15066	T	0.55	.	3.2146	0.06695	0.623:0.0:0.0:0.3769	.	718;708;718	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	V	718;718;718;718;718;718;708;718;708	ENSP00000342210:I718V;ENSP00000343175:I708V;ENSP00000357905:I718V;ENSP00000357951:I708V	ENSP00000342210:I718V	I	+	1	0	DMBT1	124340999	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.056000	0.11787	-0.033000	0.13736	0.260000	0.18958	ATC		0.438	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		160	43	0	0	0	0.00361	0	160	43				
EDRF1	26098	broad.mit.edu	37	10	127426992	127426992	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:127426992G>T	ENST00000356792.4	+	15	2191	c.1959G>T	c.(1957-1959)caG>caT	p.Q653H	C10orf137_ENST00000337623.3_Missense_Mutation_p.Q619H	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TAGAGAAGCAGATGGCCTTGT	0.428																																							uc001liq.1		NA																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.(1957-1959)CAG>CAT		erythroid differentiation-related factor 1							57.0	63.0	61.0					10																	127426992		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127426992G>T																												ENST00000356792.4:c.1959G>T	10.37:g.127426992G>T	ENSP00000349244:p.Gln653His					C10orf137_uc001lin.2_Missense_Mutation_p.Q619H|C10orf137_uc001lio.1_Missense_Mutation_p.Q619H|C10orf137_uc001lip.1_Missense_Mutation_p.Q357H|C10orf137_uc001lir.2_Missense_Mutation_p.Q147H|C10orf137_uc001lis.1_5'Flank	p.Q653H	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			15	2252	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	653					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.1959G>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358020	0.61403	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	T;T;T	0.17054	2.3;2.3;2.3	5.01	5.01	0.66863	.	0.363587	0.30356	N	0.009812	T	0.24928	0.0605	L	0.27053	0.805	0.42961	D	0.994401	D;P;P;P	0.64830	0.994;0.911;0.799;0.799	P;B;P;B	0.62560	0.904;0.443;0.568;0.35	T	0.00878	-1.1530	10	0.59425	D	0.04	.	11.9716	0.53067	0.0789:0.0:0.9211:0.0	.	653;653;619;653	F8W695;Q3B7T1;Q3B7T1-5;Q3B7T1-3	.;EDRF1_HUMAN;.;.	H	653;653;619;73	ENSP00000349244:Q653H;ENSP00000336727:Q619H;ENSP00000357803:Q73H	ENSP00000336727:Q619H	Q	+	3	2	C10orf137	127416982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.782000	0.55401	2.646000	0.89796	0.585000	0.79938	CAG		0.428	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			30	9	1	0	2.61193e-14	0.009535	3.43638e-14	30	9				
KNDC1	85442	broad.mit.edu	37	10	135000110	135000110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:135000110C>T	ENST00000304613.3	+	6	1279	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Q420*|KNDC1_ENST00000368571.2_Nonsense_Mutation_p.Q355*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	420					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGGTGAAGCCCAGACTCCCAG	0.657																																							uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1258-1260)CAG>TAG		kinase non-catalytic C-lobe domain (KIND)							31.0	39.0	37.0					10																	135000110		2202	4300	6502	SO:0001587	stop_gained	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135000110C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1258C>T	10.37:g.135000110C>T	ENSP00000304437:p.Gln420*					KNDC1_uc001lma.1_Nonsense_Mutation_p.Q355*	p.Q420*	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	1259	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	420					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	ENST00000304613.3	37	c.1258C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003269	0.93287	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	.	.	.	3.91	-6.74	0.01743	.	3.995090	0.00659	N	0.000581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5981	3.199	0.06643	0.1102:0.3952:0.3042:0.1905	.	.	.	.	X	420;420;355	.	ENSP00000304437:Q420X	Q	+	1	0	KNDC1	134850100	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.219000	0.01218	-1.160000	0.02804	-0.273000	0.10243	CAG		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		25	8	0	0	0	0.004289	0	25	8				
Unknown	0	broad.mit.edu	37	10	135491125	135491125	+	IGR	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:135491125G>A								AL845259.1 (17946 upstream) : None (None downstream)																							CCACACCGGCGCGTGGGGAAC	0.781																																							uc010qvi.1		NA																	0					0						c.(736-738)GCG>ACG		double homeobox, 4-like																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491125G>A																													10.37:g.135491125G>A							p.A246T	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	847	+			246						Missense_Mutation	SNP		37	c.736G>A																																																																																				0	0.781									4	12	0	0	0	0.001168	0	4	12				
B4GALNT4	338707	broad.mit.edu	37	11	372748	372748	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:372748G>T	ENST00000329962.6	+	3	342	c.342G>T	c.(340-342)cgG>cgT	p.R114R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	114					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCATGGCGGGAGGAGGTGA	0.692																																							uc001lpb.2		NA																	0				pancreas(1)	1						c.(340-342)CGG>CGT		beta							16.0	18.0	18.0					11																	372748		2188	4279	6467	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:372748G>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.342G>T	11.37:g.372748G>T							p.R114R	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	351	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	114			Lumenal (Potential).		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.342G>T	CCDS7694.1																																																																																				0.692	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		19	4	1	0	9.95505e-16	0.002299	1.35681e-15	19	4				
MUC5AC	4586	broad.mit.edu	37	11	1155780	1155780	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:1155780C>T	ENST00000356191.2	+	5	466	c.466C>T	c.(466-468)Cca>Tca	p.P156S				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	48	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGGTCAACGGCCACCCGTGAG	0.677																																							uc009ycr.1		NA																	0					0						c.(466-468)GGC>GGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							33.0	34.0	34.0					11																	1155780		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1155780C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.466C>T	11.37:g.1155780C>T	ENSP00000348519:p.Pro156Ser						p.G156G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	5	594	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	152			VWFD 1.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.468C>T		.	.	.	.	.	.	.	.	.	.	C	1.721	-0.496720	0.04291	.	.	ENSG00000215182	ENST00000356191	T	0.19669	2.13	3.25	0.0612	0.14339	.	.	.	.	.	T	0.20618	0.0496	.	.	.	.	.	.	.	.	.	.	.	.	T	0.30880	-0.9963	5	0.72032	D	0.01	.	3.4931	0.07645	0.2844:0.4757:0.1527:0.0872	.	.	.	.	S	156	ENSP00000348519:P156S	ENSP00000348519:P156S	P	+	1	0	MUC5AC	1145780	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.079000	0.14782	-0.090000	0.12462	-0.427000	0.05922	CCA		0.677	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		22	5	0	0	0	0.005443	0	22	5				
KRTAP5-3	387266	broad.mit.edu	37	11	1629419	1629419	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:1629419A>T	ENST00000399685.1	-	1	274	c.197T>A	c.(196-198)gTc>gAc	p.V66D		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	66	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGAGCCACAGACCCCCTTGGA	0.672																																							uc001ltw.1		NA																	0				ovary(2)	2						c.(196-198)GTC>GAC		keratin associated protein 5-3							59.0	80.0	73.0					11																	1629419		2192	4296	6488	SO:0001583	missense	387266					keratin filament		g.chr11:1629419A>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.197T>A	11.37:g.1629419A>T	ENSP00000382592:p.Val66Asp						p.V66D	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	275	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	66			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.197T>A	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	A	6.407	0.443222	0.12164	.	.	ENSG00000196224	ENST00000399685	T	0.00940	5.52	3.39	2.46	0.29980	.	.	.	.	.	T	0.00875	0.0029	N	0.24115	0.695	0.42608	D	0.993305	B	0.09022	0.002	B	0.04013	0.001	T	0.61676	-0.7014	9	0.34782	T	0.22	.	10.1603	0.42847	0.201:0.799:0.0:0.0	.	66	Q6L8H2	KRA53_HUMAN	D	66	ENSP00000382592:V66D	ENSP00000382592:V66D	V	-	2	0	KRTAP5-3	1585995	0.972000	0.33761	0.980000	0.43619	0.006000	0.05464	0.672000	0.25187	0.539000	0.28788	-1.351000	0.01236	GTC		0.672	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			82	99	0	0	0	0.00361	0	82	99				
TRIM21	6737	broad.mit.edu	37	11	4411570	4411570	+	Missense_Mutation	SNP	C	C	A	rs367660765		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4411570C>A	ENST00000254436.7	-	2	182	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L	TRIM21_ENST00000543625.1_Missense_Mutation_p.V24L	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	24					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACAGGCTCCACGAAGGGGTCC	0.582																																							uc001lyy.1		NA																	0				ovary(3)|lung(1)	4						c.(70-72)GTG>TTG		tripartite motif protein 21							76.0	78.0	77.0					11																	4411570		2143	4270	6413	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411570C>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.70G>T	11.37:g.4411570C>A	ENSP00000254436:p.Val24Leu						p.V24L	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	183	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	24			RING-type.		Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.70G>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607447	0.28623	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.07688	3.17;3.17	4.46	1.58	0.23477	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.313172	0.23165	N	0.051193	T	0.09774	0.0240	N	0.11023	0.085	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.12528	-1.0544	10	0.66056	D	0.02	.	4.2012	0.10467	0.0:0.5538:0.1705:0.2757	.	24	P19474	RO52_HUMAN	L	24	ENSP00000254436:V24L;ENSP00000444045:V24L	ENSP00000254436:V24L	V	-	1	0	TRIM21	4368146	0.001000	0.12720	0.016000	0.15963	0.094000	0.18550	1.204000	0.32296	0.385000	0.24970	-0.820000	0.03113	GTG		0.582	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		74	15	1	0	2.0493e-37	0.00361	3.56095e-37	74	15				
OR52K2	119774	broad.mit.edu	37	11	4470577	4470577	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4470577C>T	ENST00000325719.4	+	1	53	c.8C>T	c.(7-9)gCc>gTc	p.A3V	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATGTCAGCCTCCAATATC	0.473																																							uc001lyz.1		NA																	0				skin(2)	2						c.(7-9)GCC>GTC		olfactory receptor, family 52, subfamily K,							120.0	103.0	109.0					11																	4470577		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470577C>T	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.8C>T	11.37:g.4470577C>T	ENSP00000318956:p.Ala3Val						p.A3V	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	8	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	3			Extracellular (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.8C>T	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	5.458	0.269664	0.10349	.	.	ENSG00000181963	ENST00000325719	T	0.00269	8.37	4.38	-0.992	0.10232	.	0.639139	0.13567	N	0.378349	T	0.00073	0.0002	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.01456	-1.1350	10	0.15499	T	0.54	.	8.0296	0.30457	0.0:0.513:0.0:0.487	.	3	Q8NGK3	O52K2_HUMAN	V	3	ENSP00000318956:A3V	ENSP00000318956:A3V	A	+	2	0	OR52K2	4427153	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.117000	0.10708	-0.100000	0.12241	0.561000	0.74099	GCC		0.473	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		34	7	0	0	0	0.003271	0	34	7				
OR52K1	390036	broad.mit.edu	37	11	4510930	4510930	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4510930C>T	ENST00000307632.3	+	1	822	c.800C>T	c.(799-801)gCc>gTc	p.A267V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACCGTGTAGCCCGCCATGCT	0.512																																							uc001lza.1		NA																	0					0						c.(799-801)GCC>GTC		olfactory receptor, family 52, subfamily K,							217.0	194.0	202.0					11																	4510930		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510930C>T	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.800C>T	11.37:g.4510930C>T	ENSP00000302422:p.Ala267Val						p.A267V	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	800	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	267			Extracellular (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.800C>T	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473102	0.43942	.	.	ENSG00000196778	ENST00000307632	T	0.36157	1.27	4.5	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.313360	0.22544	N	0.058690	T	0.46190	0.1380	L	0.42245	1.32	0.28026	N	0.934347	D	0.89917	1.0	D	0.91635	0.999	T	0.20273	-1.0280	10	0.87932	D	0	.	6.9457	0.24518	0.0:0.5867:0.3109:0.1024	.	267	Q8NGK4	O52K1_HUMAN	V	267	ENSP00000302422:A267V	ENSP00000302422:A267V	A	+	2	0	OR52K1	4467506	0.002000	0.14202	0.934000	0.37439	0.120000	0.20174	0.365000	0.20348	1.244000	0.43870	0.411000	0.27672	GCC		0.512	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		61	99	0	0	0	0.00361	0	61	99				
OR52M1	119772	broad.mit.edu	37	11	4566571	4566571	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4566571G>T	ENST00000360213.1	+	1	151	c.151G>T	c.(151-153)Gta>Tta	p.V51L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGGCTGTGGTAAAGATAGA	0.537																																							uc010qyf.1		NA																	0					0						c.(151-153)GTA>TTA		olfactory receptor, family 52, subfamily M,							133.0	122.0	126.0					11																	4566571		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566571G>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.151G>T	11.37:g.4566571G>T	ENSP00000353343:p.Val51Leu						p.V51L	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	151	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	51			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.151G>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036446	0.35893	.	.	ENSG00000197790	ENST00000360213	T	0.03124	4.04	4.82	0.9	0.19278	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000663	T	0.07188	0.0182	M	0.87180	2.865	0.26699	N	0.971194	B	0.26902	0.163	B	0.27608	0.081	T	0.13098	-1.0522	10	0.87932	D	0	.	6.7321	0.23388	0.5227:0.0:0.4773:0.0	.	51	Q8NGK5	O52M1_HUMAN	L	51	ENSP00000353343:V51L	ENSP00000353343:V51L	V	+	1	0	OR52M1	4523147	0.005000	0.15991	0.886000	0.34754	0.738000	0.42128	0.079000	0.14782	0.341000	0.23771	-0.140000	0.14226	GTA		0.537	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		55	15	1	0	2.01807e-28	0.00361	3.31883e-28	55	15				
MMP26	56547	broad.mit.edu	37	11	4825714	4825714	+	Intron	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4825714A>G	ENST00000380390.1	+	1	72				OR52R1_ENST00000380382.1_Missense_Mutation_p.I45T|OR52R1_ENST00000356069.2_5'Flank|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GGATGGGACTATTGGATACCA	0.323																																							uc010qym.1		NA																	0				skin(1)	1						c.(133-135)ATA>ACA		olfactory receptor, family 52, subfamily R,							72.0	74.0	73.0					11																	4825714		2201	4298	6499	SO:0001627	intron_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825714A>G	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-145+37143A>G	11.37:g.4825714A>G							p.I45T	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	134	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Error:Variant_position_missing_in_Q8NGF1_after_alignment					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.134T>C	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	A	5.793	0.330602	0.10956	.	.	ENSG00000176937	ENST00000380382	T	0.00406	7.55	5.03	-0.537	0.11872	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29912	-0.9996	5	.	.	.	.	7.0231	0.24924	0.4751:0.4416:0.0833:0.0	.	.	.	.	T	45	ENSP00000369742:I45T	.	I	-	2	0	OR52R1	4782290	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.454000	0.21827	-0.174000	0.10743	-0.321000	0.08615	ATA		0.323	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		31	6	0	0	0	0.007291	0	31	6				
OR51F2	119694	broad.mit.edu	37	11	4843542	4843542	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:4843542G>T	ENST00000322110.5	+	1	992	c.927G>T	c.(925-927)aaG>aaT	p.K309N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	309						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(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGTAAAGATTAAGCAGA	0.383																																							uc010qyn.1		NA																	0				ovary(1)|pancreas(1)	2						c.(925-927)AAG>AAT		olfactory receptor, family 51, subfamily F,							138.0	134.0	135.0					11																	4843542		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843542G>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.927G>T	11.37:g.4843542G>T	ENSP00000323952:p.Lys309Asn						p.K309N	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	927	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	309			Cytoplasmic (Potential).		Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.927G>T	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901086	0.52227	.	.	ENSG00000176925	ENST00000322110	T	0.37584	1.19	4.71	4.71	0.59529	.	0.162523	0.28151	U	0.016410	T	0.28433	0.0703	L	0.40543	1.245	0.29909	N	0.823711	P	0.35272	0.493	B	0.35931	0.214	T	0.33214	-0.9877	10	0.87932	D	0	.	7.2785	0.26297	0.1797:0.0:0.8203:0.0	.	309	Q8NH61	O51F2_HUMAN	N	309	ENSP00000323952:K309N	ENSP00000323952:K309N	K	+	3	2	OR51F2	4800118	0.034000	0.19679	1.000000	0.80357	0.751000	0.42716	0.142000	0.16096	2.598000	0.87819	0.561000	0.74099	AAG		0.383	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		38	64	1	0	3.62531e-18	0.004289	5.17825e-18	38	64				
HBE1	3046	broad.mit.edu	37	11	5289756	5289756	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5289756A>T	ENST00000380237.1	-	5	731	c.387T>A	c.(385-387)gcT>gcA	p.A129A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.A129A|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	129					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCCAGGCAGCCTGCACTT	0.517																																							uc001mal.1		NA																	0					0						c.(385-387)GCT>GCA		epsilon globin							169.0	148.0	155.0					11																	5289756		2201	4298	6499	SO:0001819	synonymous_variant	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289756A>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.387T>A	11.37:g.5289756A>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.A129A	p.A129A	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	640	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	129					Q6FH44	Silent	SNP	ENST00000380237.1	37	c.387T>A	CCDS7756.1																																																																																				0.517	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		72	21	0	0	0	0.00361	0	72	21				
OR51B4	79339	broad.mit.edu	37	11	5322292	5322292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5322292C>A	ENST00000380224.1	-	1	934	c.885G>T	c.(883-885)caG>caT	p.Q295H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	295					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTTTGAATCTGCTTGGTCT	0.433																																							uc010qza.1		NA																	0				pancreas(1)|skin(1)	2						c.(883-885)CAG>CAT		olfactory receptor, family 51, subfamily B,							77.0	74.0	75.0					11																	5322292		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322292C>A	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.885G>T	11.37:g.5322292C>A	ENSP00000369573:p.Gln295His					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.Q295H	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	885	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	295			Cytoplasmic (Potential).		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.885G>T	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859019	0.32884	.	.	ENSG00000183251	ENST00000380224	T	0.38887	1.11	4.34	2.34	0.29019	.	0.000000	0.45126	D	0.000381	T	0.42765	0.1217	M	0.85945	2.785	0.28621	N	0.908196	B	0.31859	0.343	B	0.33620	0.167	T	0.49437	-0.8940	10	0.66056	D	0.02	.	3.413	0.07365	0.1774:0.5122:0.0:0.3104	.	295	Q9Y5P0	O51B4_HUMAN	H	295	ENSP00000369573:Q295H	ENSP00000369573:Q295H	Q	-	3	2	OR51B4	5278868	0.121000	0.22262	0.999000	0.59377	0.938000	0.57974	-0.533000	0.06157	0.394000	0.25230	0.650000	0.86243	CAG		0.433	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		30	4	1	0	2.48696e-23	0.003271	3.83861e-23	30	4				
OR51B6	390058	broad.mit.edu	37	11	5373621	5373621	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5373621A>T	ENST00000380219.1	+	1	884	c.884A>T	c.(883-885)aAg>aTg	p.K295M	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	295					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAAAACTAAGCAGATTCAG	0.413																																							uc010qzb.1		NA																	0				ovary(1)|skin(1)	2						c.(883-885)AAG>ATG		olfactory receptor, family 51, subfamily B,							108.0	108.0	108.0					11																	5373621		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373621A>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.884A>T	11.37:g.5373621A>T	ENSP00000369568:p.Lys295Met					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.K295M	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	884	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	295			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.884A>T	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447962	0.43429	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.47869	0.83	5.13	5.13	0.70059	.	0.111888	0.39759	N	0.001279	T	0.74756	0.3758	H	0.96916	3.905	0.38100	D	0.937238	D	0.67145	0.996	D	0.64042	0.921	T	0.83233	-0.0062	10	0.87932	D	0	.	9.1268	0.36821	0.9145:0.0:0.0855:0.0	.	295	Q9H340	O51B6_HUMAN	M	294;295	ENSP00000369568:K295M	ENSP00000369568:K295M	K	+	2	0	OR51B6	5330197	0.149000	0.22717	0.997000	0.53966	0.293000	0.27360	0.685000	0.25378	2.148000	0.66965	0.528000	0.53228	AAG		0.413	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		50	5	0	0	0	0.00361	0	50	5				
OR51I2	390064	broad.mit.edu	37	11	5475259	5475259	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5475259C>G	ENST00000341449.2	+	1	622	c.541C>G	c.(541-543)Cac>Gac	p.H181D	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	181					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACTGCCTGCACCCAGACAT	0.458																																							uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(541-543)CAC>GAC		olfactory receptor, family 51, subfamily I,							240.0	209.0	220.0					11																	5475259		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475259C>G	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.541C>G	11.37:g.5475259C>G	ENSP00000341987:p.His181Asp					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.H181D	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	541	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	181			Extracellular (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.541C>G	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395576	0.42512	.	.	ENSG00000187918	ENST00000341449	T	0.00036	8.86	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00845	0.0028	H	0.96333	3.805	0.34342	D	0.688896	D	0.69078	0.997	D	0.80764	0.994	T	0.42310	-0.9459	10	0.87932	D	0	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	181	Q9H344	O51I2_HUMAN	D	181	ENSP00000341987:H181D	ENSP00000341987:H181D	H	+	1	0	OR51I2	5431835	0.807000	0.29009	0.983000	0.44433	0.319000	0.28217	1.698000	0.37794	2.906000	0.99361	0.655000	0.94253	CAC		0.458	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		55	18	0	0	0	0.00361	0	55	18				
OR52N1	79473	broad.mit.edu	37	11	5809322	5809322	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5809322G>T	ENST00000317078.1	-	1	724	c.725C>A	c.(724-726)aCc>aAc	p.T242N	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T242N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCAGTGCAGGTGCTGAAGGC	0.473																																							uc010qzo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(724-726)ACC>AAC		olfactory receptor, family 52, subfamily N,							158.0	144.0	149.0					11																	5809322		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809322G>T	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.725C>A	11.37:g.5809322G>T	ENSP00000322823:p.Thr242Asn					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.T242N	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	725	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	242			Helical; Name=6; (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.725C>A	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221878	0.79464	.	.	ENSG00000181001	ENST00000317078	T	0.40476	1.03	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000544	T	0.74160	0.3680	H	0.94734	3.575	0.44123	D	0.9969	D	0.89917	1.0	D	0.97110	1.0	T	0.82420	-0.0466	10	0.87932	D	0	.	16.7505	0.85484	0.0:0.0:1.0:0.0	.	242	Q8NH53	O52N1_HUMAN	N	242	ENSP00000322823:T242N	ENSP00000322823:T242N	T	-	2	0	OR52N1	5765898	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.404000	0.73268	2.588000	0.87417	0.609000	0.83330	ACC		0.473	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		21	41	1	0	2.54575e-18	0.010504	3.64432e-18	21	41				
OR52N1	79473	broad.mit.edu	37	11	5809569	5809569	+	Missense_Mutation	SNP	G	G	T	rs149811568		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:5809569G>T	ENST00000317078.1	-	1	477	c.478C>A	c.(478-480)Cct>Act	p.P160T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P160S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAGTGGAAGGGATAACAAGC	0.498																																							uc010qzo.1		NA																	1	Substitution - Missense(1)	p.P160S(1)	skin(1)	skin(1)	1						c.(478-480)CCT>ACT		olfactory receptor, family 52, subfamily N,							134.0	114.0	121.0					11																	5809569		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809569G>T	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.478C>A	11.37:g.5809569G>T	ENSP00000322823:p.Pro160Thr					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.P160T	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	478	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	160			Helical; Name=4; (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.478C>A	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050751	0.36181	.	.	ENSG00000181001	ENST00000317078	T	0.50001	0.76	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.72755	0.3500	M	0.87381	2.88	0.22827	N	0.998682	D	0.89917	1.0	D	0.97110	1.0	T	0.67738	-0.5593	10	0.87932	D	0	.	16.492	0.84203	0.0:0.0:1.0:0.0	.	160	Q8NH53	O52N1_HUMAN	T	160	ENSP00000322823:P160T	ENSP00000322823:P160T	P	-	1	0	OR52N1	5766145	0.838000	0.29461	0.980000	0.43619	0.452000	0.32318	0.905000	0.28504	2.528000	0.85240	0.609000	0.83330	CCT		0.498	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		35	3	1	0	1.99505e-19	0.002445	2.90544e-19	35	3				
OR56B4	196335	broad.mit.edu	37	11	6129388	6129388	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:6129388A>T	ENST00000316529.3	+	1	475	c.380A>T	c.(379-381)gAc>gTc	p.D127V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCAGTAGACAGATACATA	0.493																																							uc010qzx.1		NA																	0				central_nervous_system(1)	1						c.(379-381)GAC>GTC		olfactory receptor, family 56, subfamily B,							145.0	130.0	135.0					11																	6129388		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129388A>T	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.380A>T	11.37:g.6129388A>T	ENSP00000321196:p.Asp127Val						p.D127V	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	380	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	127			Cytoplasmic (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.380A>T	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525743	0.44969	.	.	ENSG00000180919	ENST00000316529	T	0.57273	0.41	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	U	0.002270	T	0.82042	0.4951	H	0.98487	4.245	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.88438	0.3040	10	0.87932	D	0	.	12.9386	0.58329	1.0:0.0:0.0:0.0	.	127	Q8NH76	O56B4_HUMAN	V	127	ENSP00000321196:D127V	ENSP00000321196:D127V	D	+	2	0	OR56B4	6085964	1.000000	0.71417	0.115000	0.21578	0.163000	0.22366	8.879000	0.92398	1.804000	0.52760	0.454000	0.30748	GAC		0.493	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		91	21	0	0	0	0.00361	0	91	21				
OR6A2	8590	broad.mit.edu	37	11	6816919	6816919	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:6816919A>T	ENST00000332601.3	-	1	209	c.21T>A	c.(19-21)agT>agA	p.S7R		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	7					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACTCTCCCACTATGGTTCC	0.512																																							uc001mes.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(19-21)AGT>AGA		olfactory receptor, family 6, subfamily A,							92.0	76.0	81.0					11																	6816919		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816919A>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.21T>A	11.37:g.6816919A>T	ENSP00000330384:p.Ser7Arg						p.S7R	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	221	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	7			Extracellular (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.21T>A	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773427	0.31411	.	.	ENSG00000184933	ENST00000332601	T	0.54479	0.57	4.54	3.39	0.38822	.	0.735391	0.12601	N	0.454710	T	0.49338	0.1551	M	0.72576	2.205	0.25570	N	0.986908	B	0.02656	0.0	B	0.04013	0.001	T	0.40365	-0.9567	10	0.29301	T	0.29	.	8.5607	0.33509	0.906:0.0:0.094:0.0	.	7	O95222	OR6A2_HUMAN	R	7	ENSP00000330384:S7R	ENSP00000330384:S7R	S	-	3	2	OR6A2	6773495	0.004000	0.15560	0.997000	0.53966	0.431000	0.31685	1.424000	0.34848	0.873000	0.35799	0.482000	0.46254	AGT		0.512	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		19	42	0	0	0	0.008871	0	19	42				
OVCH2	341277	broad.mit.edu	37	11	7712603	7712603	+	RNA	SNP	G	G	T	rs376812440		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:7712603G>T	ENST00000533663.1	-	0	254				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCAGCACAGGGGTGGGGACAT	0.537																																							uc010rbf.1		NA																	0					0						c.(1534-1536)ACC>ACA		ovochymase 2 precursor							54.0	56.0	55.0					11																	7712603		2013	4167	6180			341277							g.chr11:7712603G>T	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7712603G>T							p.T512T	NM_198185	NP_937828				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)	15	1536	-									Silent	SNP	ENST00000533663.1	37	c.1536C>A																																																																																					0.537	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1	NM_198185		20	8	1	0	2.21704e-12	0.00278	2.82089e-12	20	8				
NLRP10	338322	broad.mit.edu	37	11	7982249	7982249	+	Missense_Mutation	SNP	G	G	T	rs544104082		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:7982249G>T	ENST00000328600.2	-	2	1071	c.910C>A	c.(910-912)Ctg>Atg	p.L304M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	304	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTGTTTCAGCAAGGGCTCC	0.552																																							uc001mfv.1		NA																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(910-912)CTG>ATG		NLR family, pyrin domain containing 10							106.0	106.0	106.0					11																	7982249		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982249G>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.910C>A	11.37:g.7982249G>T	ENSP00000327763:p.Leu304Met						p.L304M	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	927	-			304			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.910C>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393573	0.25205	.	.	ENSG00000182261	ENST00000328600	D	0.83591	-1.74	5.21	3.3	0.37823	NACHT nucleoside triphosphatase (1);	0.000000	0.32204	N	0.006423	D	0.89167	0.6638	M	0.79011	2.435	0.09310	N	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.80446	-0.1379	10	0.66056	D	0.02	.	8.532	0.33340	0.183:0.0:0.817:0.0	.	304	Q86W26	NAL10_HUMAN	M	304	ENSP00000327763:L304M	ENSP00000327763:L304M	L	-	1	2	NLRP10	7938825	0.004000	0.15560	0.018000	0.16275	0.009000	0.06853	0.618000	0.24373	0.695000	0.31675	0.650000	0.86243	CTG		0.552	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		83	19	1	0	2.35699e-46	0.00361	4.24433e-46	83	19				
SWAP70	23075	broad.mit.edu	37	11	9749606	9749606	+	Missense_Mutation	SNP	A	A	G	rs376455558	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:9749606A>G	ENST00000318950.6	+	5	752	c.649A>G	c.(649-651)Atg>Gtg	p.M217V	SWAP70_ENST00000447399.2_Missense_Mutation_p.M159V	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	217	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACAGGGTTACATGATGAAAAA	0.338													A|||	2	0.000399361	0.0	0.0	5008	,	,		19024	0.0		0.0	False		,,,				2504	0.002						uc001mhw.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(649-651)ATG>GTG		SWAP-70 protein		A	VAL/MET	0,4402		0,0,2201	75.0	75.0	75.0		649	4.8	1.0	11		75	1,8587	1.2+/-3.3	0,1,4293	no	missense	SWAP70	NM_015055.2	21	0,1,6494	GG,GA,AA		0.0116,0.0,0.0077	benign	217/586	9749606	1,12989	2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9749606A>G	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.649A>G	11.37:g.9749606A>G	ENSP00000315630:p.Met217Val					SWAP70_uc001mhv.2_Missense_Mutation_p.M217V|SWAP70_uc001mhx.2_Missense_Mutation_p.M159V	p.M217V	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	5	748	+			217			PH.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.649A>G	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684541	0.47991	0.0	1.16E-4	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.12147	2.71;2.71;2.71	5.87	4.75	0.60458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.35644	1.08	0.54753	D	0.999984	B;B;B	0.34226	0.443;0.417;0.002	B;B;B	0.41691	0.364;0.325;0.014	T	0.06127	-1.0844	10	0.59425	D	0.04	-17.8392	6.9973	0.24789	0.7985:0.0:0.0697:0.1319	.	159;217;159	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	V	159;217;68	ENSP00000399056:M159V;ENSP00000315630:M217V;ENSP00000435587:M68V	ENSP00000315630:M217V	M	+	1	0	SWAP70	9706182	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.243000	0.58721	1.052000	0.40392	0.459000	0.35465	ATG		0.338	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		27	1	0	0	0	0.004656	0	27	1				
INSC	387755	broad.mit.edu	37	11	15197325	15197325	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:15197325T>A	ENST00000379554.3	+	3	282	c.236T>A	c.(235-237)aTg>aAg	p.M79K	INSC_ENST00000424273.1_Missense_Mutation_p.M32K|INSC_ENST00000525218.1_Missense_Mutation_p.M32K|INSC_ENST00000530161.1_Missense_Mutation_p.M32K|INSC_ENST00000379556.3_Missense_Mutation_p.M32K|INSC_ENST00000528567.1_Missense_Mutation_p.M32K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	79					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGCGCTGGATGGAAGATCTG	0.537																																							uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(235-237)ATG>AAG		inscuteable isoform a							75.0	78.0	77.0					11																	15197325		2113	4239	6352	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15197325T>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.236T>A	11.37:g.15197325T>A	ENSP00000368872:p.Met79Lys					INSC_uc001mlz.2_Missense_Mutation_p.M32K|INSC_uc001mma.2_Missense_Mutation_p.M32K|INSC_uc010rcs.1_Missense_Mutation_p.M32K|INSC_uc001mmb.2_Missense_Mutation_p.M32K|INSC_uc001mmc.2_Missense_Mutation_p.M32K	p.M79K	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			3	282	+			79					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.236T>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347054	0.82022	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.38401	1.29;1.32;1.14;1.28;1.32;1.14	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.69078	0.997;0.978;0.991;0.991	D;P;P;P	0.64410	0.925;0.796;0.852;0.852	T	0.56050	-0.8043	10	0.87932	D	0	-28.3077	15.3065	0.73995	0.0:0.0:0.0:1.0	.	32;32;32;79	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	K	79;32;32;32;32;32;32	ENSP00000368872:M79K;ENSP00000368874:M32K;ENSP00000389161:M32K;ENSP00000435022:M32K;ENSP00000436194:M32K;ENSP00000436113:M32K	ENSP00000368872:M79K	M	+	2	0	INSC	15153901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.658000	0.83755	2.015000	0.59207	0.459000	0.35465	ATG		0.537	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		22	9	0	0	0	0.00278	0	22	9				
ABCC8	6833	broad.mit.edu	37	11	17485047	17485047	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:17485047C>A	ENST00000389817.3	-	4	585	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W	ABCC8_ENST00000302539.4_Missense_Mutation_p.G173W			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	173					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ACCAGCAGCCCTGTGAGGCAG	0.582																																							uc001mnc.2		NA																	0				ovary(1)	1						c.(517-519)GGG>TGG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						73.0	56.0	62.0					11																	17485047		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17485047C>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.517G>T	11.37:g.17485047C>A	ENSP00000374467:p.Gly173Trp					ABCC8_uc010rcy.1_Missense_Mutation_p.G173W	p.G173W	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	4	643	-			173			Helical; Name=5; (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.517G>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784613	0.70222	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91686	-2.89;-2.89	4.9	3.99	0.46301	.	0.274240	0.34411	N	0.003981	D	0.92714	0.7684	L	0.43923	1.385	0.51482	D	0.999922	B;D	0.63046	0.085;0.992	B;P	0.60609	0.022;0.877	D	0.91813	0.5461	10	0.38643	T	0.18	.	13.5729	0.61858	0.0:0.9253:0.0:0.0747	.	173;173	B7Z4N0;Q09428	.;ABCC8_HUMAN	W	173;173;187	ENSP00000374467:G173W;ENSP00000303960:G173W	ENSP00000303960:G173W	G	-	1	0	ABCC8	17441623	1.000000	0.71417	0.969000	0.41365	0.971000	0.66376	7.609000	0.82925	1.421000	0.47157	0.655000	0.94253	GGG		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		9	0	1	0	0.000274275	0.004482	0.000290021	9	0				
TSG101	7251	broad.mit.edu	37	11	18528444	18528444	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:18528444C>T	ENST00000251968.3	-	6	923	c.508G>A	c.(508-510)Gga>Aga	p.G170R	TSG101_ENST00000357193.3_Missense_Mutation_p.G65R|TSG101_ENST00000536719.1_Missense_Mutation_p.G170R|RP11-613F22.8_ENST00000539313.1_RNA|TSG101_ENST00000543087.1_5'UTR	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	170					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GGAGAGATTCCACCTGGCATG	0.353																																					GBM(99;1348 1396 8611 26475 50572)	GBM(99;1348 1396 8611 26475 50572)	uc001mor.2		NA																	0					0						c.(508-510)GGA>AGA		tumor susceptibility gene 101							108.0	110.0	109.0					11																	18528444		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18528444C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.508G>A	11.37:g.18528444C>T	ENSP00000251968:p.Gly170Arg					TSG101_uc001mos.1_Missense_Mutation_p.G118R|TSG101_uc009yhs.1_RNA	p.G170R	NM_006292	NP_006283	Q99816	TS101_HUMAN			6	634	-			170					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.508G>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171480	0.78452	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.41400	1.0;1.0;1.0	5.96	5.96	0.96718	.	0.086812	0.46758	D	0.000264	T	0.40595	0.1123	L	0.56769	1.78	0.51012	D	0.999903	P	0.44195	0.828	B	0.38755	0.281	T	0.19910	-1.0291	10	0.16420	T	0.52	-20.1545	18.2074	0.89859	0.0:1.0:0.0:0.0	.	170	Q99816	TS101_HUMAN	R	170;170;65	ENSP00000438471:G170R;ENSP00000251968:G170R;ENSP00000349721:G65R	ENSP00000251968:G170R	G	-	1	0	TSG101	18485020	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.255000	0.51484	2.831000	0.97527	0.650000	0.86243	GGA		0.353	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		18	32	0	0	0	0.002299	0	18	32				
IGSF22	283284	broad.mit.edu	37	11	18731902	18731902	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:18731902G>C	ENST00000513874.1	-	17	2812	c.2673C>G	c.(2671-2673)tcC>tcG	p.S891S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	889	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTACTGAGCTGGATGGCACAC	0.493																																							uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(2671-2673)TCC>TCG		immunoglobulin superfamily, member 22							120.0	120.0	120.0					11																	18731902		1955	4148	6103	SO:0001819	synonymous_variant	283284							g.chr11:18731902G>C	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2673C>G	11.37:g.18731902G>C						IGSF22_uc001mpa.2_RNA	p.S891S	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			17	2863	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.2673C>G	CCDS41625.2																																																																																				0.493	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		67	20	0	0	0	0.00361	0	67	20				
IGSF22	283284	broad.mit.edu	37	11	18740226	18740226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:18740226G>T	ENST00000513874.1	-	8	885	c.746C>A	c.(745-747)aCc>aAc	p.T249N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	249	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GACCACTGTGGTGTCAACCTT	0.478																																							uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(745-747)ACC>AAC		immunoglobulin superfamily, member 22							192.0	196.0	195.0					11																	18740226		1894	4107	6001	SO:0001583	missense	283284							g.chr11:18740226G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.746C>A	11.37:g.18740226G>T	ENSP00000421191:p.Thr249Asn					IGSF22_uc001mpa.2_RNA	p.T249N	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			8	936	-			249			Ig-like 2.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.746C>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	7.203	0.593890	0.13875	.	.	ENSG00000179057	ENST00000513874	T	0.39997	1.05	5.09	3.14	0.36123	.	0.416974	0.17541	U	0.170546	T	0.27169	0.0666	N	0.14661	0.345	0.09310	N	1	B	0.27910	0.193	B	0.37015	0.239	T	0.28650	-1.0037	10	0.19147	T	0.46	.	8.2787	0.31887	0.0999:0.2004:0.6997:0.0	.	249	D6RGV7	.	N	249	ENSP00000421191:T249N	ENSP00000322422:T249N	T	-	2	0	IGSF22	18696802	0.279000	0.24239	0.084000	0.20598	0.453000	0.32348	0.886000	0.28241	1.129000	0.42072	0.591000	0.81541	ACC		0.478	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		125	32	1	0	3.78446e-69	0.00361	7.05801e-69	125	32				
ANO3	63982	broad.mit.edu	37	11	26556081	26556081	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:26556081C>G	ENST00000256737.3	+	9	1800	c.948C>G	c.(946-948)acC>acG	p.T316T	ANO3_ENST00000525139.1_Silent_p.T300T|ANO3_ENST00000531568.1_Silent_p.T170T|ANO3_ENST00000537978.1_Silent_p.T300T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	316					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGAACGCACCAAATATGAAA	0.323																																							uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(946-948)ACC>ACG		transmembrane protein 16C							94.0	93.0	93.0					11																	26556081		2203	4300	6503	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26556081C>G	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.948C>G	11.37:g.26556081C>G						ANO3_uc010rdr.1_Silent_p.T300T|ANO3_uc010rds.1_Silent_p.T155T|ANO3_uc010rdt.1_Silent_p.T170T	p.T316T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			9	1093	+			316			Cytoplasmic (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.948C>G	CCDS31447.1																																																																																				0.323	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		43	8	0	0	0	0.00361	0	43	8				
ANO3	63982	broad.mit.edu	37	11	26664763	26664763	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:26664763G>T	ENST00000256737.3	+	23	3162	c.2310G>T	c.(2308-2310)gcG>gcT	p.A770A	ANO3_ENST00000525139.1_Silent_p.A754A|ANO3_ENST00000531568.1_Silent_p.A624A|ANO3_ENST00000537978.1_Silent_p.A754A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	770					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTTTGTTGCGGCTTTTCCTC	0.383																																							uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2308-2310)GCG>GCT		transmembrane protein 16C							123.0	111.0	115.0					11																	26664763		2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26664763G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2310G>T	11.37:g.26664763G>T						ANO3_uc010rdr.1_Silent_p.A754A|ANO3_uc010rds.1_Silent_p.A609A|ANO3_uc010rdt.1_Silent_p.A624A	p.A770A	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			23	2455	+			770			Helical; (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.2310G>T	CCDS31447.1																																																																																				0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		33	12	1	0	4.90274e-10	0.00623	5.9485e-10	33	12				
KCNA4	3739	broad.mit.edu	37	11	30033117	30033117	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:30033117G>T	ENST00000328224.6	-	2	2342	c.1109C>A	c.(1108-1110)cCc>cAc	p.P370H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	370					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GATGAAGAAGGGGTCATTGAA	0.478																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1108-1110)CCC>CAC		potassium voltage-gated channel, shaker-related							86.0	81.0	82.0					11																	30033117		2025	4197	6222	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033117G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1109C>A	11.37:g.30033117G>T	ENSP00000328511:p.Pro370His						p.P370H	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2261	-			370						Missense_Mutation	SNP	ENST00000328224.6	37	c.1109C>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372844	0.61624	.	.	ENSG00000182255	ENST00000328224	D	0.97553	-4.43	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97337	0.9129	M	0.89163	3.01	0.80722	D	1	P	0.48998	0.918	B	0.42112	0.376	D	0.98413	1.0573	10	0.87932	D	0	.	19.258	0.93955	0.0:0.0:1.0:0.0	.	370	P22459	KCNA4_HUMAN	H	370	ENSP00000328511:P370H	ENSP00000328511:P370H	P	-	2	0	KCNA4	29989693	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	9.869000	0.99810	2.554000	0.86153	0.655000	0.94253	CCC		0.478	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		36	3	1	0	2.48696e-23	0.003271	3.83861e-23	36	3				
MPPED2	744	broad.mit.edu	37	11	30601890	30601890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:30601890C>A	ENST00000358117.5	-	1	153	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	MPPED2_ENST00000448418.2_Missense_Mutation_p.V11F	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	11					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GTTATGGTAACTTTGCCTTGA	0.478																																							uc001msr.2		NA																	0				skin(1)	1						c.(31-33)GTT>TTT		metallophosphoesterase domain containing 2							267.0	214.0	232.0					11																	30601890		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30601890C>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.31G>T	11.37:g.30601890C>A	ENSP00000350833:p.Val11Phe					MPPED2_uc001msq.3_Missense_Mutation_p.V11F|MPPED2_uc009yji.2_5'UTR	p.V11F	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			1	151	-			11					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.31G>T	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324878	0.81580	.	.	ENSG00000066382	ENST00000448418;ENST00000358117;ENST00000528686	T;T	0.47869	0.83;0.85	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	N	0.14661	0.345	0.80722	D	1	P;P	0.47106	0.89;0.89	B;B	0.39876	0.235;0.312	T	0.07558	-1.0766	10	0.19147	T	0.46	-9.8957	20.1272	0.97986	0.0:1.0:0.0:0.0	.	11;11	Q15777;E9PB10	MPPD2_HUMAN;.	F	11	ENSP00000388258:V11F;ENSP00000350833:V11F	ENSP00000350833:V11F	V	-	1	0	MPPED2	30558466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	2.828000	0.97474	0.655000	0.94253	GTT		0.478	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		42	8	1	0	4.44401e-20	0.002522	6.55085e-20	42	8				
LRRC4C	57689	broad.mit.edu	37	11	40137665	40137665	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:40137665C>A	ENST00000278198.2	-	2	2141	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	LRRC4C_ENST00000527150.1_Missense_Mutation_p.V60L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V60L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V60L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	60	LRRNT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACACAAATCACCTTGCTGAAC	0.542																																							uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(178-180)GTG>TTG		netrin-G1 ligand precursor							80.0	68.0	72.0					11																	40137665		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137665C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.178G>T	11.37:g.40137665C>A	ENSP00000278198:p.Val60Leu					LRRC4C_uc001mxc.1_Missense_Mutation_p.V56L|LRRC4C_uc001mxd.1_Missense_Mutation_p.V56L|LRRC4C_uc001mxb.1_Missense_Mutation_p.V56L	p.V60L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2142	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	60			LRRNT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.178G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445456	0.96187	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	M	0.86573	2.825	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	T	0.00333	-1.1810	10	0.59425	D	0.04	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	60	Q9HCJ2	LRC4C_HUMAN	L	60	ENSP00000278198:V60L;ENSP00000436976:V60L;ENSP00000437132:V60L;ENSP00000434761:V60L	ENSP00000278198:V60L	V	-	1	0	LRRC4C	40094241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.719000	0.93026	0.650000	0.86243	GTG		0.542	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		16	21	1	0	2.23348e-06	0.004007	2.47965e-06	16	21				
PHF21A	51317	broad.mit.edu	37	11	45992717	45992717	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:45992717C>A	ENST00000418153.2	-	7	761	c.562G>T	c.(562-564)Ggg>Tgg	p.G188W	PHF21A_ENST00000257821.4_Missense_Mutation_p.G188W|PHF21A_ENST00000323180.6_Missense_Mutation_p.G188W			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	188					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GCCCCAGGCCCAGTGACCTTA	0.512																																							uc001ncc.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(562-564)GGG>TGG		BRAF35/HDAC2 complex isoform a							117.0	98.0	104.0					11																	45992717		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45992717C>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.562G>T	11.37:g.45992717C>A	ENSP00000398824:p.Gly188Trp					PHF21A_uc001ncb.3_Missense_Mutation_p.G188W|PHF21A_uc009ykx.2_Missense_Mutation_p.G188W|PHF21A_uc001nce.2_Missense_Mutation_p.G188W|PHF21A_uc001nca.1_5'UTR	p.G188W	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			7	1186	-			188					D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.562G>T	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076277	0.76415	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.49432	0.78;0.78;0.78	5.59	5.59	0.84812	.	0.102446	0.64402	D	0.000001	T	0.58921	0.2156	L	0.44542	1.39	0.46981	D	0.999271	D;D	0.71674	0.998;0.998	D;D	0.66847	0.923;0.947	T	0.60632	-0.7225	10	0.87932	D	0	-4.8638	12.8678	0.57949	0.0:0.9259:0.0:0.0741	.	188;188	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	W	188	ENSP00000257821:G188W;ENSP00000323152:G188W;ENSP00000398824:G188W	ENSP00000257821:G188W	G	-	1	0	PHF21A	45949293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.103000	0.64578	2.640000	0.89533	0.655000	0.94253	GGG		0.512	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		41	6	1	0	9.9191e-30	0.00874	1.64949e-29	41	6				
HARBI1	283254	broad.mit.edu	37	11	46625147	46625147	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:46625147T>C	ENST00000326737.3	-	3	1230	c.983A>G	c.(982-984)cAc>cGc	p.H328R		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	328						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GGACTCCATGTGCTCATACTC	0.522																																							uc001ncy.2		NA																	0					0						c.(982-984)CAC>CGC		harbinger transposase derived 1							88.0	84.0	85.0					11																	46625147		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46625147T>C	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.983A>G	11.37:g.46625147T>C	ENSP00000317743:p.His328Arg						p.H328R	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN			3	1231	-			328					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.983A>G	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	T	5.118	0.207408	0.09704	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.96	3.61	0.41365	.	0.390232	0.30076	N	0.010464	T	0.32315	0.0825	N	0.19112	0.55	0.34026	D	0.653246	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	9	0.14656	T	0.56	-5.0871	8.5911	0.33688	0.0:0.0667:0.131:0.8023	.	328	Q96MB7	HARB1_HUMAN	R	328	.	ENSP00000317743:H328R	H	-	2	0	HARBI1	46581723	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.210000	0.32370	0.489000	0.27749	0.533000	0.62120	CAC		0.522	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		50	12	0	0	0	0.00361	0	50	12				
ACP2	53	broad.mit.edu	37	11	47269242	47269242	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:47269242G>C	ENST00000256997.3	-	3	363	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	ACP2_ENST00000525230.1_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.L83V|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000530453.1_Missense_Mutation_p.L83V|ACP2_ENST00000444355.2_Missense_Mutation_p.L83V|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000533929.1_Missense_Mutation_p.L55V|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000527256.1_Missense_Mutation_p.L51V|NR1H3_ENST00000405576.1_5'Flank|ACP2_ENST00000529444.1_Missense_Mutation_p.L83V|NR1H3_ENST00000395397.3_5'Flank	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	83					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CGCTGCCGCAGGGCCTGGCCC	0.592																																					Melanoma(90;262 1440 11488 44828 48531)	Melanoma(90;262 1440 11488 44828 48531)	uc001nei.2		NA																	0				ovary(1)	1						c.(247-249)CTG>GTG		acid phosphatase 2, lysosomal isoform 1							87.0	78.0	81.0					11																	47269242		2201	4298	6499	SO:0001583	missense	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47269242G>C	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.247C>G	11.37:g.47269242G>C	ENSP00000256997:p.Leu83Val					ACP2_uc010rhe.1_Missense_Mutation_p.L55V|ACP2_uc009ylj.2_Missense_Mutation_p.L11V|ACP2_uc010rhf.1_Missense_Mutation_p.L51V|ACP2_uc010rhg.1_Missense_Mutation_p.L83V|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Missense_Mutation_p.L83V|ACP2_uc010rhj.1_Missense_Mutation_p.L83V|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank|NR1H3_uc001nek.2_5'Flank|NR1H3_uc001nej.2_5'Flank|NR1H3_uc001nel.2_5'Flank	p.L83V	NM_001610	NP_001601	P11117	PPAL_HUMAN			3	364	-			83			Lumenal (Potential).		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	c.247C>G	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134097	0.77662	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355;ENST00000529788	T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.53	4.43	0.53597	.	0.000000	0.64402	D	0.000001	T	0.71151	0.3306	H	0.96333	3.805	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.756;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.999;0.53;0.999;0.998;0.999	T	0.80645	-0.1290	10	0.66056	D	0.02	.	14.9691	0.71220	0.0815:0.0:0.9185:0.0	.	83;83;51;55;83	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;.;PPAL_HUMAN	V	83;83;51;55;83;83;83;83	ENSP00000256997:L83V;ENSP00000436658:L83V;ENSP00000432205:L51V;ENSP00000432439:L55V;ENSP00000436487:L83V;ENSP00000434205:L83V;ENSP00000414911:L83V;ENSP00000436828:L83V	ENSP00000256997:L83V	L	-	1	2	ACP2	47225818	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.460000	0.60108	2.596000	0.87737	0.655000	0.94253	CTG		0.592	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		18	42	0	0	0	0.008871	0	18	42				
MYBPC3	4607	broad.mit.edu	37	11	47364673	47364673	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:47364673G>A	ENST00000545968.1	-	15	1304	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	MYBPC3_ENST00000399249.2_Missense_Mutation_p.A417V|MYBPC3_ENST00000256993.4_Missense_Mutation_p.A416V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	417	Ig-like C2-type 2.		A -> S (in CMH4). {ECO:0000269|PubMed:15563892}.		cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTACGCTTGGCACCGATGGA	0.617																																							uc001nfa.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1249-1251)GCC>GTC		myosin binding protein C, cardiac							38.0	43.0	41.0					11																	47364673		2117	4229	6346	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47364673G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1250C>T	11.37:g.47364673G>A	ENSP00000442795:p.Ala417Val					MYBPC3_uc010rhl.1_RNA	p.A417V	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	14	1305	-			416		A -> S (in CMH4).	Ig-like C2-type 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.1250C>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040261	0.35989	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68479	-0.33;-0.33;-0.33	4.72	1.15	0.20763	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53706	0.1813	N	0.21194	0.64	0.24621	N	0.993672	B	0.19817	0.039	B	0.25759	0.063	T	0.43988	-0.9357	9	0.38643	T	0.18	.	13.9929	0.64378	0.0:0.0:0.1974:0.8026	.	416	Q14896	MYPC3_HUMAN	V	417;417;416	ENSP00000442795:A417V;ENSP00000382193:A417V;ENSP00000256993:A416V	ENSP00000256993:A416V	A	-	2	0	MYBPC3	47321249	0.903000	0.30736	0.291000	0.24904	0.782000	0.44232	1.285000	0.33261	0.063000	0.16370	0.462000	0.41574	GCC		0.617	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			11	0	0	0	0	0.001855	0	11	0				
FNBP4	23360	broad.mit.edu	37	11	47772725	47772725	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:47772725T>G	ENST00000263773.5	-	5	767	c.755A>C	c.(754-756)cAg>cCg	p.Q252P	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	252						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCCCTGTACCTGTGTGGCAAG	0.388																																							uc009ylv.2		NA																	0				ovary(1)	1						c.(754-756)CAG>CCG		formin binding protein 4							117.0	108.0	111.0					11																	47772725		1879	4111	5990	SO:0001583	missense	23360							g.chr11:47772725T>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.755A>C	11.37:g.47772725T>G	ENSP00000263773:p.Gln252Pro					FNBP4_uc001ngj.2_Missense_Mutation_p.Q159P|FNBP4_uc001ngl.2_RNA	p.Q252P	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			5	908	-			252					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.755A>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582307	0.86748	.	.	ENSG00000109920	ENST00000263773	T	0.35973	1.28	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.50583	-0.8811	10	0.56958	D	0.05	-10.9734	15.5892	0.76512	0.0:0.0:0.0:1.0	.	252	Q8N3X1	FNBP4_HUMAN	P	252	ENSP00000263773:Q252P	ENSP00000263773:Q252P	Q	-	2	0	FNBP4	47729301	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.921000	0.87530	2.089000	0.63090	0.455000	0.32223	CAG		0.388	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			58	11	0	0	0	0.00361	0	58	11				
OR4B1	119765	broad.mit.edu	37	11	48238445	48238445	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:48238445G>T	ENST00000309562.2	+	1	102	c.84G>T	c.(82-84)gtG>gtT	p.V28V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTTTGTGGTGTTTCTCCCCG	0.493																																							uc010rhs.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(82-84)GTG>GTT		olfactory receptor, family 4, subfamily B,							257.0	210.0	226.0					11																	48238445		2201	4298	6499	SO:0001819	synonymous_variant	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238445G>T	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.84G>T	11.37:g.48238445G>T							p.V28V	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	84	+			28			Helical; Name=1; (Potential).		Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	c.84G>T	CCDS31485.1																																																																																				0.493	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		90	18	1	0	2.41567e-30	0.00361	4.03445e-30	90	18				
OR4X2	119764	broad.mit.edu	37	11	48267347	48267347	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:48267347C>A	ENST00000302329.3	+	1	740	c.692C>A	c.(691-693)aCc>aAc	p.T231N		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCCCTCTCCACCTGTGGGTCC	0.522																																							uc001ngs.1		NA																	0					0						c.(691-693)ACC>AAC		olfactory receptor, family 4, subfamily X,							117.0	102.0	107.0					11																	48267347		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267347C>A	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.692C>A	11.37:g.48267347C>A	ENSP00000307751:p.Thr231Asn						p.T231N	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	692	+			231			Helical; Name=6; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.692C>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148370	0.78001	.	.	ENSG00000172208	ENST00000302329	T	0.40476	1.03	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.78604	0.4309	H	0.98577	4.27	0.45477	D	0.998447	D	0.89917	1.0	D	0.97110	1.0	D	0.87261	0.2279	10	0.87932	D	0	.	16.3534	0.83225	0.0:1.0:0.0:0.0	.	231	Q8NGF9	OR4X2_HUMAN	N	231	ENSP00000307751:T231N	ENSP00000307751:T231N	T	+	2	0	OR4X2	48223923	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.793000	0.69060	2.436000	0.82500	0.650000	0.86243	ACC		0.522	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		50	9	1	0	5.73435e-26	0.00361	9.20351e-26	50	9				
FOLH1	2346	broad.mit.edu	37	11	49175458	49175458	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:49175458T>C	ENST00000256999.2	-	17	2170	c.1910A>G	c.(1909-1911)aAg>aGg	p.K637R	FOLH1_ENST00000343844.4_Missense_Mutation_p.K329R|FOLH1_ENST00000356696.3_Missense_Mutation_p.K637R|FOLH1_ENST00000533034.1_Missense_Mutation_p.K622R|FOLH1_ENST00000340334.7_Missense_Mutation_p.K622R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	637					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTAAAATTCTTTACTGCAGA	0.338																																							uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1909-1911)AAG>AGG		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						84.0	86.0	85.0					11																	49175458		2200	4296	6496	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175458T>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1910A>G	11.37:g.49175458T>C	ENSP00000256999:p.Lys637Arg					FOLH1_uc001ngx.2_Missense_Mutation_p.K69R|FOLH1_uc001ngz.2_Missense_Mutation_p.K637R|FOLH1_uc009yly.2_Missense_Mutation_p.K622R|FOLH1_uc009ylz.2_Missense_Mutation_p.K622R|FOLH1_uc009yma.2_Missense_Mutation_p.K329R	p.K637R	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			17	2171	-			637			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1910A>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	1.814	-0.474055	0.04414	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.59224	0.28;1.5;0.28;0.28;1.5	3.79	3.79	0.43588	Transferrin receptor-like, dimerisation domain (3);	0.627416	0.15411	N	0.263766	T	0.32071	0.0817	N	0.12746	0.255	0.09310	N	1	B;B;B;B;P	0.35401	0.0;0.0;0.0;0.0;0.499	B;B;B;B;B	0.30179	0.003;0.001;0.001;0.001;0.112	T	0.08086	-1.0739	10	0.22109	T	0.4	.	7.3341	0.26599	0.0:0.0:0.2243:0.7757	.	622;622;637;637;52	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	R	637;637;622;329;622	ENSP00000256999:K637R;ENSP00000349129:K637R;ENSP00000344131:K622R;ENSP00000344086:K329R;ENSP00000431463:K622R	ENSP00000256999:K637R	K	-	2	0	FOLH1	49132034	0.000000	0.05858	0.403000	0.26384	0.971000	0.66376	0.392000	0.20801	1.729000	0.51567	0.438000	0.28831	AAG		0.338	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		9	36	0	0	0	0.004482	0	9	36				
LOC440040	440040	broad.mit.edu	37	11	49598110	49598110	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:49598110G>T	ENST00000527477.1	+	0	714																											TTCGGCTGTGGCCCTAGAGCA	0.522																																							uc010rhy.1		NA																	0					0						c.(223-225)GCC>TCC		SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5;																																						440040							g.chr11:49598110G>T																													11.37:g.49598110G>T						LOC440040_uc009ymb.2_Missense_Mutation_p.A75S	p.A75S	NR_027044						2	701	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.223G>T																																																																																					0.522	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			10	14	1	0	0.000442599	0.006214	0.000466224	10	14				
LOC440040	440040	broad.mit.edu	37	11	49598375	49598375	+	RNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:49598375C>A	ENST00000527477.1	+	0	979																											AGGGTTGTGCCTTCAGATGCT	0.453																																							uc010rhy.1		NA																	0					0						c.(487-489)CCT>CAT		SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5;																																						440040							g.chr11:49598375C>A																													11.37:g.49598375C>A						LOC440040_uc009ymb.2_Missense_Mutation_p.P163H	p.P163H	NR_027044						2	966	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.488C>A																																																																																					0.453	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			29	32	1	0	1.39806e-14	0.008361	1.85576e-14	29	32				
OR4A5	81318	broad.mit.edu	37	11	51411670	51411670	+	Silent	SNP	G	G	C	rs370303718		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:51411670G>C	ENST00000319760.6	-	1	778	c.726C>G	c.(724-726)acC>acG	p.T242T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T242T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGACAACAACGGTACTGCCGG	0.398																																							uc001nhi.1		NA																	2	Substitution - coding silent(2)	p.T242T(1)	ovary(1)|lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(724-726)ACC>ACG		olfactory receptor, family 4, subfamily A,							61.0	60.0	61.0					11																	51411670		2201	4295	6496	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411670G>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.726C>G	11.37:g.51411670G>C							p.T242T	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	726	-		all_lung(304;0.236)	242			Helical; Name=6; (Potential).		Q6IF84	Silent	SNP	ENST00000319760.6	37	c.726C>G	CCDS31497.1																																																																																				0.398	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		32	13	0	0	0	0.002445	0	32	13				
TRIM48	79097	broad.mit.edu	37	11	55032418	55032418	+	Silent	SNP	C	C	G	rs200170748	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55032418C>G	ENST00000417545.2	+	2	173	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	13						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGAGGGAACTCACCTGCCCCA	0.488																																							uc010rid.1		NA																	0					0						c.(85-87)CTC>CTG		tripartite motif-containing 48							127.0	134.0	131.0					11																	55032418		2190	4256	6446	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55032418C>G	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.87C>G	11.37:g.55032418C>G							p.L29L	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	173	+			13					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.87C>G	CCDS7947.2																																																																																				0.488	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			79	224	0	0	0	0.00361	0	79	224				
OR4C15	81309	broad.mit.edu	37	11	55322199	55322199	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55322199C>G	ENST00000314644.2	+	1	417	c.417C>G	c.(415-417)ctC>ctG	p.L139L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TAGACTCCCTCTATGTGACAA	0.488										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(415-417)CTC>CTG		olfactory receptor, family 4, subfamily C,							170.0	147.0	155.0					11																	55322199		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322199C>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.417C>G	11.37:g.55322199C>G		HNSCC(20;0.049)					p.L139L	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	417	+			85			Extracellular (Potential).		Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.417C>G	CCDS31501.1																																																																																				0.488	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		49	128	0	0	0	0.00361	0	49	128				
OR4C15	81309	broad.mit.edu	37	11	55322684	55322684	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55322684T>G	ENST00000314644.2	+	1	902	c.902T>G	c.(901-903)aTt>aGt	p.I301S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCTGTTGTGATTTTGTTCTTT	0.428										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(901-903)ATT>AGT		olfactory receptor, family 4, subfamily C,							247.0	238.0	241.0					11																	55322684		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322684T>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.902T>G	11.37:g.55322684T>G	ENSP00000324958:p.Ile301Ser	HNSCC(20;0.049)					p.I301S	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	902	+			247			Helical; Name=6; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.902T>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.558739	0.45590	.	.	ENSG00000181939	ENST00000314644	T	0.37752	1.18	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37517	0.1006	N	0.16833	0.445	0.09310	N	1	P	0.34699	0.464	P	0.50896	0.653	T	0.39099	-0.9630	9	0.72032	D	0.01	.	8.9167	0.35585	0.0:0.0:0.1882:0.8118	.	247	Q8NGM1	OR4CF_HUMAN	S	301	ENSP00000324958:I301S	ENSP00000324958:I301S	I	+	2	0	OR4C15	55079260	0.000000	0.05858	0.958000	0.39756	0.493000	0.33554	-0.232000	0.09055	2.107000	0.64212	0.317000	0.21355	ATT		0.428	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		42	112	0	0	0	0.00874	0	42	112				
OR4P4	81300	broad.mit.edu	37	11	55406660	55406660	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55406660T>C	ENST00000314612.2	+	1	827	c.827T>C	c.(826-828)aTt>aCt	p.I276T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATACCATCATTGCTCCCATG	0.398																																							uc010rij.1		NA																	0				central_nervous_system(1)	1						c.(826-828)ATT>ACT		olfactory receptor, family 4, subfamily P,							159.0	137.0	145.0					11																	55406660		2178	4021	6199	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406660T>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.827T>C	11.37:g.55406660T>C	ENSP00000324831:p.Ile276Thr						p.I276T	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	827	+			276			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.827T>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048614	0.36181	.	.	ENSG00000181927	ENST00000314612	T	0.00202	8.56	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.174388	0.27402	N	0.019529	T	0.00496	0.0016	M	0.83692	2.655	0.09310	N	1	P	0.50272	0.933	P	0.59825	0.864	T	0.36817	-0.9732	10	0.87932	D	0	-3.814	9.6299	0.39774	0.0:0.0:0.1757:0.8243	.	276	Q8NGL7	OR4P4_HUMAN	T	276	ENSP00000324831:I276T	ENSP00000324831:I276T	I	+	2	0	OR4P4	55163236	0.139000	0.22563	0.077000	0.20336	0.229000	0.25112	3.194000	0.51005	2.044000	0.60594	0.519000	0.50382	ATT		0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		11	66	0	0	0	0.000978	0	11	66				
OR10AG1	282770	broad.mit.edu	37	11	55735354	55735354	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55735354C>A	ENST00000312345.2	-	1	636	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTGATAAACACCACCGCTACT	0.383																																							uc010rit.1		NA																	0				skin(2)	2						c.(586-588)GTG>TTG		olfactory receptor, family 10, subfamily AG,							85.0	84.0	85.0					11																	55735354		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735354C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.586G>T	11.37:g.55735354C>A	ENSP00000311477:p.Val196Leu						p.V196L	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	586	-	Esophageal squamous(21;0.0137)		196			Helical; Name=5; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.586G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.288661	0.01387	.	.	ENSG00000174970	ENST00000312345	T	0.34275	1.37	5.37	-8.02	0.01118	GPCR, rhodopsin-like superfamily (1);	1.135570	0.06662	N	0.764658	T	0.06735	0.0172	N	0.01003	-1.06	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25710	-1.0124	10	0.02654	T	1	.	0.5245	0.00618	0.2293:0.1539:0.2699:0.3468	.	196	Q8NH19	O10AG_HUMAN	L	196	ENSP00000311477:V196L	ENSP00000311477:V196L	V	-	1	0	OR10AG1	55491930	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-7.001000	0.00047	-0.916000	0.03818	0.477000	0.44152	GTG		0.383	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		17	19	1	0	3.45872e-05	0.004007	3.74953e-05	17	19				
OR8H3	390152	broad.mit.edu	37	11	55890462	55890462	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55890462C>A	ENST00000313472.3	+	1	614	c.614C>A	c.(613-615)tCc>tAc	p.S205Y		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATCGCTGGTTCCACCCTGATG	0.408																																							uc001nii.1		NA																	0				ovary(2)	2						c.(613-615)TCC>TAC		olfactory receptor, family 8, subfamily H,							211.0	190.0	197.0					11																	55890462		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890462C>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.614C>A	11.37:g.55890462C>A	ENSP00000323928:p.Ser205Tyr						p.S205Y	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	614	+	Esophageal squamous(21;0.00693)		205			Helical; Name=5; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.614C>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	9.861	1.196264	0.22037	.	.	ENSG00000181761	ENST00000313472	T	0.37752	1.18	3.62	-0.237	0.13061	GPCR, rhodopsin-like superfamily (1);	0.546180	0.17017	N	0.190242	T	0.45856	0.1363	L	0.60012	1.86	0.09310	N	1	P	0.49783	0.928	P	0.58266	0.836	T	0.32693	-0.9897	10	0.66056	D	0.02	.	8.4714	0.32988	0.0:0.5345:0.0:0.4655	.	205	Q8N146	OR8H3_HUMAN	Y	205	ENSP00000323928:S205Y	ENSP00000323928:S205Y	S	+	2	0	OR8H3	55647038	0.000000	0.05858	0.001000	0.08648	0.429000	0.31625	-1.455000	0.02379	0.100000	0.17581	0.173000	0.16961	TCC		0.408	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		65	66	1	0	2.54232e-27	0.00361	4.13527e-27	65	66				
OR8J3	81168	broad.mit.edu	37	11	55904345	55904345	+	Missense_Mutation	SNP	T	T	C	rs187302152		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:55904345T>C	ENST00000301529.1	-	1	849	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	284						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)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGATTCAGCATAGGAATCACC	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		17897	0.0		0.001	False		,,,				2504	0.0						uc010riz.1		NA																	0				skin(2)	2						c.(850-852)ATG>GTG		olfactory receptor, family 8, subfamily J,							129.0	127.0	128.0					11																	55904345		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904345T>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.850A>G	11.37:g.55904345T>C	ENSP00000301529:p.Met284Val						p.M284V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	850	-	Esophageal squamous(21;0.00693)		284			Helical; Name=7; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.850A>G	CCDS31520.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	8.312	0.822411	0.16678	.	.	ENSG00000167822	ENST00000301529	T	0.36878	1.23	3.27	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.39514	1.22	0.09310	N	1	B	0.14805	0.011	B	0.19666	0.026	T	0.19484	-1.0304	10	0.66056	D	0.02	.	4.8863	0.13704	0.1842:0.0:0.19:0.6257	.	284	Q8NGG0	OR8J3_HUMAN	V	284	ENSP00000301529:M284V	ENSP00000301529:M284V	M	-	1	0	OR8J3	55660921	0.000000	0.05858	0.574000	0.28523	0.845000	0.48019	0.107000	0.15375	1.272000	0.44329	0.247000	0.18012	ATG		0.363	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		24	57	0	0	0	0.002299	0	24	57				
OR5R1	219479	broad.mit.edu	37	11	56185423	56185423	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56185423C>G	ENST00000312253.1	-	1	285	c.286G>C	c.(286-288)Gct>Cct	p.A96P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTTGCACAAGCATGGAAAGGA	0.478																																							uc010rji.1		NA																	0				ovary(2)	2						c.(286-288)GCT>CCT		olfactory receptor, family 5, subfamily R,							109.0	100.0	103.0					11																	56185423		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185423C>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.286G>C	11.37:g.56185423C>G	ENSP00000308595:p.Ala96Pro						p.A96P	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	286	-	Esophageal squamous(21;0.00448)		96			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.286G>C	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520457	0.44866	.	.	ENSG00000174942	ENST00000312253	T	0.03152	4.03	5.78	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32608	U	0.005877	T	0.15609	0.0376	M	0.69185	2.1	0.09310	N	1	D	0.67145	0.996	D	0.65874	0.939	T	0.01814	-1.1268	10	0.72032	D	0.01	-10.972	15.8181	0.78621	0.1373:0.8627:0.0:0.0	.	96	Q8NH85	OR5R1_HUMAN	P	96	ENSP00000308595:A96P	ENSP00000308595:A96P	A	-	1	0	OR5R1	55941999	0.034000	0.19679	0.078000	0.20375	0.153000	0.21895	3.144000	0.50616	1.429000	0.47314	0.478000	0.44815	GCT		0.478	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		9	34	0	0	0	0.006214	0	9	34				
OR5R1	219479	broad.mit.edu	37	11	56185700	56185700	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56185700T>A	ENST00000312253.1	-	1	8	c.9A>T	c.(7-9)gaA>gaT	p.E3D		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGATATTAACTTCAGCCATTT	0.388																																							uc010rji.1		NA																	0				ovary(2)	2						c.(7-9)GAA>GAT		olfactory receptor, family 5, subfamily R,							71.0	82.0	78.0					11																	56185700		2201	4295	6496	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185700T>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.9A>T	11.37:g.56185700T>A	ENSP00000308595:p.Glu3Asp						p.E3D	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	9	-	Esophageal squamous(21;0.00448)		3			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.9A>T	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889346	0.52014	.	.	ENSG00000174942	ENST00000312253	T	0.03035	4.07	5.37	-10.7	0.00240	.	1.098080	0.07382	N	0.887641	T	0.01870	0.0059	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41662	-0.9496	10	0.32370	T	0.25	1.1003	1.1452	0.01774	0.2399:0.2961:0.2613:0.2027	.	3	Q8NH85	OR5R1_HUMAN	D	3	ENSP00000308595:E3D	ENSP00000308595:E3D	E	-	3	2	OR5R1	55942276	0.000000	0.05858	0.000000	0.03702	0.447000	0.32167	-2.071000	0.01378	-2.590000	0.00457	0.247000	0.18012	GAA		0.388	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		29	66	0	0	0	0.008361	0	29	66				
OR5M9	390162	broad.mit.edu	37	11	56230457	56230457	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56230457G>T	ENST00000279791.1	-	1	420	c.421C>A	c.(421-423)Cgg>Agg	p.R141R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGATGAGCCGAACACACACA	0.458																																							uc010rjj.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(421-423)CGG>AGG		olfactory receptor, family 5, subfamily M,							103.0	103.0	103.0					11																	56230457		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230457G>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.421C>A	11.37:g.56230457G>T							p.R141R	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	421	-	Esophageal squamous(21;0.00448)		141			Helical; Name=4; (Potential).		Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.421C>A	CCDS31531.1																																																																																				0.458	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		34	26	1	0	1.836e-18	0.003755	2.63219e-18	34	26				
OR5M8	219484	broad.mit.edu	37	11	56258458	56258458	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56258458A>T	ENST00000327216.2	-	1	413	c.389T>A	c.(388-390)cTt>cAt	p.L130H		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCTGCCATAAAGCAGAGGGTT	0.517																																							uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(388-390)CTT>CAT		olfactory receptor, family 5, subfamily M,							94.0	80.0	85.0					11																	56258458		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258458A>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.389T>A	11.37:g.56258458A>T	ENSP00000323354:p.Leu130His						p.L130H	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	389	-	Esophageal squamous(21;0.00352)		130			Cytoplasmic (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.389T>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977286	0.34848	.	.	ENSG00000181371	ENST00000327216	T	0.01388	4.95	4.41	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35677	N	0.003049	T	0.01940	0.0061	N	0.12422	0.21	0.32520	N	0.53639	D	0.76494	0.999	D	0.67900	0.954	T	0.55354	-0.8154	10	0.24483	T	0.36	-17.5049	4.841	0.13491	0.6233:0.1917:0.0:0.185	.	130	Q8NGP6	OR5M8_HUMAN	H	130	ENSP00000323354:L130H	ENSP00000323354:L130H	L	-	2	0	OR5M8	56015034	0.000000	0.05858	0.959000	0.39883	0.600000	0.36913	-0.061000	0.11693	1.753000	0.51906	0.519000	0.50382	CTT		0.517	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		53	48	0	0	0	0.00361	0	53	48				
OR5AP2	338675	broad.mit.edu	37	11	56409178	56409178	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56409178G>A	ENST00000302981.1	-	1	737	c.738C>T	c.(736-738)acC>acT	p.T246T	OR5AP2_ENST00000544374.1_Silent_p.T247T	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAGAGGCACAGGTGGAGAAGG	0.468																																							uc001njb.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(736-738)ACC>ACT		olfactory receptor, family 5, subfamily AP,							144.0	125.0	131.0					11																	56409178		2201	4296	6497	SO:0001819	synonymous_variant	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409178G>A	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.738C>T	11.37:g.56409178G>A							p.T246T	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	738	-			246			Helical; Name=6; (Potential).		B2RNM8	Silent	SNP	ENST00000302981.1	37	c.738C>T	CCDS31534.1																																																																																				0.468	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		61	38	0	0	0	0.00361	0	61	38				
SMTNL1	219537	broad.mit.edu	37	11	57310583	57310583	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:57310583C>A	ENST00000399154.2	+	1	468	c.468C>A	c.(466-468)gaC>gaA	p.D156E	SMTNL1_ENST00000527972.1_Missense_Mutation_p.D156E|SMTNL1_ENST00000457912.1_Missense_Mutation_p.D174E			A8MU46	SMTL1_HUMAN	smoothelin-like 1	156	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						ATGCCAATGACAGAGACAAGC	0.552																																							uc009ymh.1		NA																	0				ovary(1)	1						c.(520-522)GAC>GAA		smoothelin-like 1							40.0	43.0	42.0					11																	57310583		2079	4203	6282	SO:0001583	missense	219537							g.chr11:57310583C>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.468C>A	11.37:g.57310583C>A	ENSP00000382108:p.Asp156Glu						p.D174E	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			2	522	+			156						Missense_Mutation	SNP	ENST00000399154.2	37	c.522C>A		.	.	.	.	.	.	.	.	.	.	C	11.16	1.558267	0.27827	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02579	4.33;4.33;4.24	5.44	-7.72	0.01250	.	1.976360	0.03591	N	0.231811	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.45614	-0.9249	10	0.02654	T	1	-1.8458	3.7146	0.08433	0.0844:0.2795:0.3659:0.2702	.	174	C9J621	.	E	174;156;156	ENSP00000406485:D174E;ENSP00000432651:D156E;ENSP00000382108:D156E	ENSP00000382108:D156E	D	+	3	2	SMTNL1	57067159	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-3.331000	0.00509	-1.206000	0.02641	0.655000	0.94253	GAC		0.552	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		12	12	1	0	7.03913e-09	0.001368	8.36735e-09	12	12				
OR9I1	219954	broad.mit.edu	37	11	57886019	57886019	+	Missense_Mutation	SNP	C	C	A	rs147763350		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:57886019C>A	ENST00000302610.1	-	1	897	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TTTCTGAAGGCGTCTTTTACA	0.428																																							uc001nml.1		NA																	0				pancreas(1)	1						c.(898-900)GCC>TCC		olfactory receptor, family 9, subfamily I,							126.0	131.0	129.0					11																	57886019		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886019C>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.898G>T	11.37:g.57886019C>A	ENSP00000302606:p.Ala300Ser					OR9Q1_uc001nmj.2_Intron	p.A300S	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	898	-		Breast(21;0.0589)	300			Cytoplasmic (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.898G>T	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246673	0.39697	.	.	ENSG00000172377	ENST00000302610	T	0.44482	0.92	4.97	3.12	0.35913	.	0.000000	0.45867	D	0.000329	T	0.31888	0.0811	L	0.41027	1.25	0.27146	N	0.961524	B	0.28933	0.228	B	0.32211	0.142	T	0.27571	-1.0070	10	0.62326	D	0.03	-20.8755	5.9159	0.19055	0.1524:0.6857:0.0:0.1619	.	300	Q8NGQ6	OR9I1_HUMAN	S	300	ENSP00000302606:A300S	ENSP00000302606:A300S	A	-	1	0	OR9I1	57642595	0.709000	0.27886	0.332000	0.25469	0.002000	0.02628	1.284000	0.33249	0.822000	0.34565	-0.444000	0.05651	GCC		0.428	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		44	124	1	0	1.00776e-21	0.00361	1.52623e-21	44	124				
OR5B17	219965	broad.mit.edu	37	11	58126271	58126271	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58126271G>T	ENST00000357377.3	-	1	271	c.272C>A	c.(271-273)tCc>tAc	p.S91Y		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGCACTGTAGGAGATGGCTTT	0.463																																							uc010rke.1		NA																	0				ovary(2)|skin(1)	3						c.(271-273)TCC>TAC		olfactory receptor, family 5, subfamily B,							91.0	84.0	86.0					11																	58126271		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126271G>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.272C>A	11.37:g.58126271G>T	ENSP00000349945:p.Ser91Tyr						p.S91Y	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	272	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	91			Extracellular (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.272C>A	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	12.77	2.036157	0.35893	.	.	ENSG00000197786	ENST00000357377	T	0.00745	5.75	3.5	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36815	U	0.002391	T	0.03695	0.0105	H	0.97214	3.96	0.35139	D	0.768678	P	0.36438	0.553	B	0.39419	0.299	T	0.01316	-1.1387	10	0.87932	D	0	-20.2205	13.7676	0.63004	0.0:0.0:1.0:0.0	.	91	Q8NGF7	OR5BH_HUMAN	Y	91	ENSP00000349945:S91Y	ENSP00000349945:S91Y	S	-	2	0	OR5B17	57882847	1.000000	0.71417	0.879000	0.34478	0.184000	0.23303	2.949000	0.49074	1.789000	0.52484	0.461000	0.40582	TCC		0.463	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		34	16	1	0	5.91797e-21	0.002445	8.87925e-21	34	16				
OR5B3	441608	broad.mit.edu	37	11	58170323	58170323	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58170323C>A	ENST00000309403.2	-	1	559	c.560G>T	c.(559-561)tGc>tTc	p.C187F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTATCAGAGCAAGAGAGAAC	0.388																																							uc010rkf.1		NA																	0					0						c.(559-561)TGC>TTC		olfactory receptor, family 5, subfamily B,							91.0	85.0	87.0					11																	58170323		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170323C>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.560G>T	11.37:g.58170323C>A	ENSP00000308270:p.Cys187Phe						p.C187F	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	560	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	187			Extracellular (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.560G>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	10.10	1.258927	0.23051	.	.	ENSG00000172769	ENST00000309403	T	0.00460	7.27	4.05	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.02455	0.0075	H	0.97291	3.975	0.21184	N	0.999765	D	0.89917	1.0	D	0.72338	0.977	T	0.11817	-1.0572	10	0.87932	D	0	-35.9027	11.8338	0.52312	0.1768:0.8232:0.0:0.0	.	187	Q8NH48	OR5B3_HUMAN	F	187	ENSP00000308270:C187F	ENSP00000308270:C187F	C	-	2	0	OR5B3	57926899	0.976000	0.34144	0.540000	0.28089	0.277000	0.26821	2.602000	0.46257	1.008000	0.39264	0.650000	0.86243	TGC		0.388	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		45	18	1	0	4.44401e-20	0.002522	6.55085e-20	45	18				
OR5B21	219968	broad.mit.edu	37	11	58274827	58274827	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58274827G>T	ENST00000360374.2	-	1	751	c.752C>A	c.(751-753)aCa>aAa	p.T251K		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAAGATGATTGTGCCATAGAA	0.473																																							uc010rki.1		NA																	0				ovary(3)	3						c.(751-753)ACA>AAA		olfactory receptor, family 5, subfamily B,							152.0	146.0	148.0					11																	58274827		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58274827G>T		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.752C>A	11.37:g.58274827G>T	ENSP00000353537:p.Thr251Lys						p.T251K	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	752	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	251			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.752C>A	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446863	0.63178	.	.	ENSG00000198283	ENST00000360374	T	0.00287	8.29	5.35	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.200523	0.24345	U	0.039325	T	0.01061	0.0035	H	0.96805	3.885	0.09310	N	1	D	0.63046	0.992	D	0.68039	0.955	T	0.13150	-1.0520	10	0.87932	D	0	-2.0918	12.6184	0.56590	0.0798:0.0:0.9202:0.0	.	251	A6NL26	OR5BL_HUMAN	K	251	ENSP00000353537:T251K	ENSP00000353537:T251K	T	-	2	0	OR5B21	58031403	0.619000	0.27059	0.318000	0.25279	0.979000	0.70002	3.818000	0.55678	1.486000	0.48398	0.655000	0.94253	ACA		0.473	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		24	60	1	0	3.01185e-09	0.003954	3.59563e-09	24	60				
LPXN	9404	broad.mit.edu	37	11	58317280	58317280	+	Missense_Mutation	SNP	C	C	T	rs200897820		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58317280C>T	ENST00000395074.2	-	7	809	c.721G>A	c.(721-723)Gga>Aga	p.G241R	LPXN_ENST00000528954.1_Missense_Mutation_p.G246R|LPXN_ENST00000528489.1_Missense_Mutation_p.G221R	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	241	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AACACCTCTCCGCAGTGAGAG	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19677	0.0		0.0	False		,,,				2504	0.0						uc001nmw.2		NA																	0				ovary(1)	1						c.(721-723)GGA>AGA		leupaxin isoform 2							97.0	78.0	85.0					11																	58317280		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58317280C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.721G>A	11.37:g.58317280C>T	ENSP00000378512:p.Gly241Arg					LPXN_uc009ymp.2_Missense_Mutation_p.G111R|LPXN_uc010rkj.1_Missense_Mutation_p.G246R|LPXN_uc010rkk.1_Missense_Mutation_p.G221R	p.G241R	NM_004811	NP_004802	O60711	LPXN_HUMAN			7	866	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	241			LIM zinc-binding 2.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.721G>A	CCDS7969.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.501258	0.96371	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.87103	-2.21;-2.21	5.95	5.95	0.96441	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.997	P;D;D	0.97110	0.846;1.0;0.916	D	0.92204	0.5770	10	0.54805	T	0.06	.	19.1646	0.93551	0.0:1.0:0.0:0.0	.	221;246;241	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	R	246;241	ENSP00000431284:G246R;ENSP00000378512:G241R	ENSP00000378512:G241R	G	-	1	0	LPXN	58073856	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.606000	0.82863	2.824000	0.97209	0.655000	0.94253	GGA		0.498	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		13	18	0	0	0	0.003163	0	13	18				
FAM111A	63901	broad.mit.edu	37	11	58919341	58919341	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:58919341C>T	ENST00000528737.1	+	5	3018	c.200C>T	c.(199-201)cCa>cTa	p.P67L	FAM111A_ENST00000533703.1_Missense_Mutation_p.P67L|FAM111A_ENST00000420244.1_Missense_Mutation_p.P67L|FAM111A_ENST00000361723.3_Missense_Mutation_p.P67L|FAM111A_ENST00000531147.1_Missense_Mutation_p.P67L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	67					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAGAAAAATCCAGAAGACCAG	0.408																																							uc010rkp.1		NA																	0				ovary(3)	3						c.(199-201)CCA>CTA		hypothetical protein LOC63901							125.0	128.0	127.0					11																	58919341		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919341C>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.200C>T	11.37:g.58919341C>T	ENSP00000434435:p.Pro67Leu					FAM111A_uc010rkq.1_Missense_Mutation_p.P67L|FAM111A_uc010rkr.1_Missense_Mutation_p.P67L|FAM111A_uc001nno.2_Missense_Mutation_p.P67L|FAM111A_uc001nnp.2_Missense_Mutation_p.P67L|FAM111A_uc001nnq.2_Missense_Mutation_p.P67L	p.P67L	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	427	+		all_epithelial(135;0.139)	67					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.200C>T	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780770	0.31502	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000531408;ENST00000533703;ENST00000531147	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.39	-4.16	0.03869	.	1.818580	0.02951	N	0.141750	T	0.23806	0.0576	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.08411	-1.0723	10	0.49607	T	0.09	-4.2955	0.9245	0.01321	0.3045:0.1983:0.2992:0.198	.	67	Q96PZ2	F111A_HUMAN	L	67	ENSP00000434435:P67L;ENSP00000406683:P67L;ENSP00000355264:P67L;ENSP00000433154:P67L;ENSP00000431631:P67L	ENSP00000355264:P67L	P	+	2	0	FAM111A	58675917	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-1.783000	0.01770	-1.115000	0.02973	-0.158000	0.13435	CCA		0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		35	94	0	0	0	0.004878	0	35	94				
OR4D11	219986	broad.mit.edu	37	11	59271521	59271521	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:59271521T>A	ENST00000313253.1	+	1	473	c.473T>A	c.(472-474)gTg>gAg	p.V158E		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CACTCCATCGTGCAGATCTCC	0.547																																							uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(472-474)GTG>GAG		olfactory receptor, family 4, subfamily D,							221.0	190.0	200.0					11																	59271521		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271521T>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.473T>A	11.37:g.59271521T>A	ENSP00000320077:p.Val158Glu						p.V158E	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	473	+			158			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.473T>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.119085	0.77323	.	.	ENSG00000176200	ENST00000313253	T	0.39056	1.1	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.314786	0.22480	N	0.059503	T	0.69305	0.3096	M	0.92459	3.31	0.44194	D	0.997018	P	0.49559	0.925	P	0.61658	0.892	T	0.76753	-0.2843	10	0.87932	D	0	-22.5887	12.6067	0.56527	0.0:0.0:0.0:1.0	.	158	Q8NGI4	OR4DB_HUMAN	E	158	ENSP00000320077:V158E	ENSP00000320077:V158E	V	+	2	0	OR4D11	59028097	0.001000	0.12720	0.991000	0.47740	0.916000	0.54674	0.302000	0.19192	2.001000	0.58596	0.455000	0.32223	GTG		0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		117	86	0	0	0	0.00361	0	117	86				
OR10V1	390201	broad.mit.edu	37	11	59480963	59480963	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:59480963A>C	ENST00000307552.2	-	1	374	c.356T>G	c.(355-357)aTg>aGg	p.M119R	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GTCATAAGCCATGACTACCAG	0.512																																							uc001nof.1		NA																	0					0						c.(355-357)ATG>AGG		olfactory receptor, family 10, subfamily V,							76.0	64.0	68.0					11																	59480963		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480963A>C	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.356T>G	11.37:g.59480963A>C	ENSP00000302199:p.Met119Arg						p.M119R	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	356	-			119			Helical; Name=3; (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.356T>G	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.483517	0.63962	.	.	ENSG00000172289	ENST00000307552	T	0.01159	5.25	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.11793	0.0287	H	0.97732	4.065	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.01152	-1.1435	10	0.87932	D	0	.	11.9888	0.53163	1.0:0.0:0.0:0.0	.	119	Q8NGI7	O10V1_HUMAN	R	119	ENSP00000302199:M119R	ENSP00000302199:M119R	M	-	2	0	OR10V1	59237539	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.812000	0.91959	1.986000	0.57962	0.444000	0.29173	ATG		0.512	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		15	21	0	0	0	0.002445	0	15	21				
OR10V1	390201	broad.mit.edu	37	11	59480965	59480965	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:59480965G>T	ENST00000307552.2	-	1	372	c.354C>A	c.(352-354)gtC>gtA	p.V118V	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CATAAGCCATGACTACCAGCA	0.512																																							uc001nof.1		NA																	0					0						c.(352-354)GTC>GTA		olfactory receptor, family 10, subfamily V,							76.0	64.0	68.0					11																	59480965		2201	4295	6496	SO:0001819	synonymous_variant	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480965G>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.354C>A	11.37:g.59480965G>T							p.V118V	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	354	-			118			Helical; Name=3; (Potential).		Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	c.354C>A	CCDS31565.1																																																																																				0.512	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		15	21	1	0	7.11191e-15	0.002836	9.49891e-15	15	21				
MS4A4A	51338	broad.mit.edu	37	11	60064772	60064772	+	Missense_Mutation	SNP	G	G	T	rs140018712		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:60064772G>T	ENST00000337908.4	+	3	394	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	MS4A4A_ENST00000395016.3_Missense_Mutation_p.G83W|MS4A4A_ENST00000355131.3_Missense_Mutation_p.G83W|MS4A4A_ENST00000532114.1_Missense_Mutation_p.G102W	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	102						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CGTGTATATCGGGTACACAAT	0.388																																							uc001noz.2		NA																	0					0						c.(304-306)GGG>TGG		membrane-spanning 4-domains, subfamily A, member							150.0	127.0	135.0					11																	60064772		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60064772G>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.304G>T	11.37:g.60064772G>T	ENSP00000338648:p.Gly102Trp					MS4A4A_uc001npa.2_Missense_Mutation_p.G83W|MS4A4A_uc001npb.2_Missense_Mutation_p.G83W|MS4A4A_uc001npc.2_Missense_Mutation_p.G83W	p.G102W	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			3	314	+			102			Helical; (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.304G>T	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875262	0.33162	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.03689	3.84;3.84;3.84;3.84	3.91	0.616	0.17613	.	0.397558	0.23489	U	0.047634	T	0.14399	0.0348	M	0.81497	2.545	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.98;0.989	T	0.02632	-1.1131	10	0.39692	T	0.17	5.4763	9.6145	0.39683	0.0:0.0:0.4021:0.5979	.	102;102	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	W	102;102;83;83	ENSP00000434506:G102W;ENSP00000338648:G102W;ENSP00000347252:G83W;ENSP00000378462:G83W	ENSP00000338648:G102W	G	+	1	0	MS4A4A	59821348	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.296000	0.08287	0.019000	0.15079	0.467000	0.42956	GGG		0.388	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			35	21	1	0	8.73648e-17	0.004289	1.21034e-16	35	21				
MYRF	745	broad.mit.edu	37	11	61553285	61553285	+	Missense_Mutation	SNP	G	G	A	rs532882959		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:61553285G>A	ENST00000278836.5	+	26	3410	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	MYRF_ENST00000265460.5_Missense_Mutation_p.R1065Q|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.R491Q	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1105					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACCTCTCACCGGTGGCCAATA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17505	0.0		0.0	False		,,,				2504	0.001						uc001nsc.1		NA																	0				breast(1)	1						c.(3313-3315)CGG>CAG		myelin gene regulatory factor isoform 2							81.0	75.0	77.0					11																	61553285		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61553285G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3314G>A	11.37:g.61553285G>A	ENSP00000278836:p.Arg1105Gln					C11orf9_uc001nse.1_Missense_Mutation_p.R1065Q|C11orf9_uc010rll.1_Missense_Mutation_p.R491Q	p.R1105Q	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			26	3410	+			1105					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3314G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312328	0.40895	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.44083	0.93;0.93;0.93	5.08	3.94	0.45596	.	0.301612	0.31734	N	0.007144	T	0.14356	0.0347	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.05007	-1.0912	10	0.24483	T	0.36	-16.2016	3.6864	0.08329	0.6581:0.0:0.1813:0.1606	.	491;1065;1105	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	Q	1105;1065;491	ENSP00000278836:R1105Q;ENSP00000265460:R1065Q;ENSP00000374253:R491Q	ENSP00000265460:R1065Q	R	+	2	0	C11orf9	61309861	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.789000	0.38724	0.879000	0.35944	-0.415000	0.06103	CGG		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		26	60	0	0	0	0.00632	0	26	60				
AHNAK	79026	broad.mit.edu	37	11	62284959	62284959	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:62284959C>A	ENST00000378024.4	-	5	17204	c.16930G>T	c.(16930-16932)Ggg>Tgg	p.G5644W	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5644	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTGAGGCCCAGACACACTC	0.502																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(16930-16932)GGG>TGG		AHNAK nucleoprotein isoform 1							81.0	90.0	87.0					11																	62284959		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62284959C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16930G>T	11.37:g.62284959C>A	ENSP00000367263:p.Gly5644Trp					AHNAK_uc001ntk.1_Intron	p.G5644W	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	17230	-		Melanoma(852;0.155)	5644			Gly-rich.		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16930G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545762	0.65198	.	.	ENSG00000124942	ENST00000378024	T	0.05139	3.49	5.14	5.14	0.70334	.	0.000000	0.46442	U	0.000294	T	0.23451	0.0567	M	0.85945	2.785	0.41743	D	0.989629	P	0.44776	0.843	P	0.52554	0.702	T	0.01532	-1.1331	10	0.44086	T	0.13	-6.7141	18.2438	0.89978	0.0:1.0:0.0:0.0	.	5644	Q09666	AHNK_HUMAN	W	5644	ENSP00000367263:G5644W	ENSP00000367263:G5644W	G	-	1	0	AHNAK	62041535	0.001000	0.12720	1.000000	0.80357	0.903000	0.53119	0.795000	0.26972	2.389000	0.81357	0.637000	0.83480	GGG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		52	105	1	0	1.35964e-18	0.00361	1.9565e-18	52	105				
NRXN2	9379	broad.mit.edu	37	11	64434732	64434732	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64434732A>G	ENST00000377551.1	-	8	1999	c.1788T>C	c.(1786-1788)gaT>gaC	p.D596D	NRXN2_ENST00000409571.1_Silent_p.D589D|NRXN2_ENST00000377559.3_Silent_p.D565D|NRXN2_ENST00000265459.6_Silent_p.D596D			Q9P2S2	NRX2A_HUMAN	neurexin 2	596	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.D596D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTTTCGCCCATCCCTCTGGA	0.592																																							uc001oar.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1786-1788)GAT>GAC		neurexin 2 isoform alpha-1 precursor							77.0	60.0	66.0					11																	64434732		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64434732A>G		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1788T>C	11.37:g.64434732A>G						NRXN2_uc001oas.2_Silent_p.D565D|NRXN2_uc001oaq.2_Silent_p.D263D	p.D596D	NM_015080	NP_055895	P58401	NRX2B_HUMAN			10	2227	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1788T>C	CCDS8077.1																																																																																				0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		16	47	0	0	0	0.003163	0	16	47				
PYGM	5837	broad.mit.edu	37	11	64525786	64525786	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64525786C>A	ENST00000164139.3	-	4	858	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	154					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCATAGGCGGCCAGGCCCAGT	0.602																																							uc001oax.3		NA																	0				ovary(2)	2						c.(460-462)GCC>TCC		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						97.0	112.0	107.0					11																	64525786		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525786C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.460G>T	11.37:g.64525786C>A	ENSP00000164139:p.Ala154Ser					PYGM_uc001oay.3_Intron	p.A154S	NM_005609	NP_005600	P11217	PYGM_HUMAN			4	1277	-			154					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.460G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199426	0.94997	.	.	ENSG00000068976	ENST00000164139;ENST00000540450	D	0.93247	-3.19	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	D	0.96009	0.8700	M	0.62723	1.935	0.80722	D	1	P	0.40515	0.719	D	0.63703	0.917	D	0.94797	0.7967	9	.	.	.	-11.5812	17.0275	0.86452	0.0:1.0:0.0:0.0	.	154	P11217	PYGM_HUMAN	S	154;135	ENSP00000164139:A154S	.	A	-	1	0	PYGM	64282362	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.800000	0.85949	2.631000	0.89168	0.462000	0.41574	GCC		0.602	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		87	60	1	0	3.59392e-34	0.00361	6.15646e-34	87	60				
ATG2A	23130	broad.mit.edu	37	11	64676542	64676542	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64676542G>A	ENST00000377264.3	-	16	2397	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S762L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	762					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACTCTCCACTGACAGCTCCAG	0.622																																							uc001obx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2284-2286)TCA>TTA		autophagy related 2A							88.0	59.0	69.0					11																	64676542		2200	4297	6497	SO:0001583	missense	23130						protein binding	g.chr11:64676542G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2285C>T	11.37:g.64676542G>A	ENSP00000366475:p.Ser762Leu						p.S762L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			16	2400	-			762					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2285C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835420	0.50951	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.49432	0.78;0.78	4.77	3.86	0.44501	.	0.292240	0.33515	N	0.004838	T	0.35219	0.0924	L	0.31664	0.95	0.38078	D	0.936592	P	0.43826	0.818	B	0.39419	0.299	T	0.43669	-0.9377	10	0.87932	D	0	.	11.1418	0.48406	0.0899:0.0:0.9101:0.0	.	762	Q2TAZ0	ATG2A_HUMAN	L	762	ENSP00000410522:S762L;ENSP00000366475:S762L	ENSP00000366475:S762L	S	-	2	0	ATG2A	64433118	1.000000	0.71417	0.283000	0.24790	0.068000	0.16541	3.327000	0.52045	1.382000	0.46385	0.655000	0.94253	TCA		0.622	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		19	36	0	0	0	0.007413	0	19	36				
PPP2R5B	5526	broad.mit.edu	37	11	64695896	64695896	+	Splice_Site	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64695896C>T	ENST00000164133.2	+	6	1343	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CATCTTCCTCCGGTGAGTGGC	0.607																																							uc001oby.2		NA																	0				ovary(2)	2						c.(721-723)CGG>TGG		beta isoform of regulatory subunit B56, protein							82.0	76.0	78.0					11																	64695896		2201	4297	6498	SO:0001630	splice_region_variant	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64695896C>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.722+1C>T	11.37:g.64695896C>T						PPP2R5B_uc001obz.2_Missense_Mutation_p.R241W	p.R241W	NM_006244	NP_006235	Q15173	2A5B_HUMAN			6	1306	+			241					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.721C>T	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850569	0.71719	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.56	2.64	0.31445	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.83334	-0.0011	9	0.87932	D	0	-21.4244	8.6122	0.33808	0.4175:0.5825:0.0:0.0	.	241	Q15173	2A5B_HUMAN	W	241;268;241	.	ENSP00000164133:R241W	R	+	1	2	PPP2R5B	64452472	0.593000	0.26840	1.000000	0.80357	0.995000	0.86356	0.813000	0.27225	1.080000	0.41073	0.549000	0.68633	CGG		0.607	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244	Missense_Mutation	63	43	0	0	0	0.00361	0	63	43				
BATF2	116071	broad.mit.edu	37	11	64756939	64756939	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64756939C>T	ENST00000301887.4	-	3	617	c.487G>A	c.(487-489)Gtt>Att	p.V163I	BATF2_ENST00000435842.2_Missense_Mutation_p.V78I|BATF2_ENST00000527716.1_Missense_Mutation_p.V139I	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	163					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GGTTCAGCAACCACAGCGGGG	0.632																																							uc001ocf.1		NA																	0				ovary(1)	1						c.(487-489)GTT>ATT		basic leucine zipper transcription factor,							30.0	22.0	25.0					11																	64756939		2200	4296	6496	SO:0001583	missense	116071					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:64756939C>T	AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"""basic leucine zipper proteins"""	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.487G>A	11.37:g.64756939C>T	ENSP00000301887:p.Val163Ile					BATF2_uc001oce.1_Missense_Mutation_p.V78I	p.V163I	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN			3	618	-			163					D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Missense_Mutation	SNP	ENST00000301887.4	37	c.487G>A	CCDS8087.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384582	0.25031	.	.	ENSG00000168062	ENST00000301887;ENST00000435842;ENST00000527716	T	0.49720	0.77	3.98	0.848	0.18966	.	2.560940	0.01540	N	0.019171	T	0.35422	0.0931	L	0.32530	0.975	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.07102	-1.0790	10	0.23302	T	0.38	-1.3123	3.6427	0.08173	0.0:0.5391:0.2059:0.255	.	163	Q8N1L9	BATF2_HUMAN	I	163;78;139	ENSP00000301887:V163I	ENSP00000301887:V163I	V	-	1	0	BATF2	64513515	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.355000	0.07671	0.079000	0.16929	0.555000	0.69702	GTT		0.632	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385478.2	NM_138456		20	8	0	0	0	0.007413	0	20	8				
SPDYC	387778	broad.mit.edu	37	11	64938797	64938797	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:64938797G>T	ENST00000377185.2	+	2	108		c.e2-1		AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTTCTCTACAGGTCACCCTGC	0.592																																							uc010rnz.1		NA																	0					0						c.e2-1		speedy C							93.0	94.0	93.0					11																	64938797		2201	4297	6498	SO:0001630	splice_region_variant	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64938797G>T	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.27-1G>T	11.37:g.64938797G>T							p.G9_splice	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			2	27	+									Splice_Site	SNP	ENST00000377185.2	37	c.27_splice	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671965	0.29693	.	.	ENSG00000204710	ENST00000377185	.	.	.	3.02	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7653	0.40557	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPDYC	64695373	0.908000	0.30866	0.940000	0.37924	0.049000	0.14656	1.509000	0.35780	2.005000	0.58758	0.467000	0.42956	.		0.592	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778	Intron	62	138	1	0	5.10652e-33	0.00361	8.70133e-33	62	138				
POLA2	23649	broad.mit.edu	37	11	65055292	65055292	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65055292G>T	ENST00000265465.3	+	11	1643	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	POLA2_ENST00000541089.1_Missense_Mutation_p.R163L	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	371					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AACCATGACCGGCCAGATGTC	0.493																																							uc001odj.2		NA																	0					0						c.(1111-1113)CGG>CTG		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						117.0	86.0	96.0					11																	65055292		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65055292G>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1112G>T	11.37:g.65055292G>T	ENSP00000265465:p.Arg371Leu					POLA2_uc010rod.1_Missense_Mutation_p.R163L|POLA2_uc001odk.2_Missense_Mutation_p.R68L	p.R371L	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			11	1454	+			371					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.1112G>T	CCDS8098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.52|14.52	2.559362|2.559362	0.45590|0.45590	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000525924|ENST00000265465;ENST00000541089	.|T;T	.|0.29655	.|1.56;1.56	5.95|5.95	-1.09|-1.09	0.09904|0.09904	.|DNA polymerase alpha/epsilon, subunit B (1);	.|0.273893	.|0.42053	.|D	.|0.000767	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.58302|0.58302	1.8|1.8	0.46416|0.46416	D|D	0.999037|0.999037	.|B;P	.|0.42161	.|0.028;0.772	.|B;P	.|0.44597	.|0.059;0.454	T|T	0.12477|0.12477	-1.0546|-1.0546	5|10	.|0.38643	.|T	.|0.18	-8.6766|-8.6766	11.7563|11.7563	0.51878|0.51878	0.4286:0.0:0.5714:0.0|0.4286:0.0:0.5714:0.0	.|.	.|163;371	.|B4DNB4;Q14181	.|.;DPOA2_HUMAN	C|L	41|371;163	.|ENSP00000265465:R371L;ENSP00000443222:R163L	.|ENSP00000265465:R371L	G|R	+|+	1|2	0|0	POLA2|POLA2	64811868|64811868	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.976000|0.976000	0.68499|0.68499	0.898000|0.898000	0.28404|0.28404	-0.075000|-0.075000	0.12798|0.12798	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.493	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		29	18	1	0	5.91797e-21	0.002445	8.87925e-21	29	18				
PCNXL3	399909	broad.mit.edu	37	11	65387346	65387346	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65387346G>T	ENST00000355703.3	+	8	2490	c.1951G>T	c.(1951-1953)Gcc>Tcc	p.A651S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	651						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTGCATGAGGCCTGCACCTT	0.642																																							uc001oey.2		NA																	0					0						c.(1951-1953)GCC>TCC		pecanex-like 3							50.0	49.0	50.0					11																	65387346		2103	4213	6316	SO:0001583	missense	399909					integral to membrane		g.chr11:65387346G>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1951G>T	11.37:g.65387346G>T	ENSP00000347931:p.Ala651Ser						p.A651S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			8	1951	+			651					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.1951G>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164894	0.78339	.	.	ENSG00000197136	ENST00000355703	T	0.01484	4.84	5.6	5.6	0.85130	.	0.000000	0.38217	N	0.001766	T	0.06280	0.0162	L	0.44542	1.39	0.46222	D	0.998937	D	0.63880	0.993	D	0.70227	0.968	T	0.55471	-0.8136	10	0.26408	T	0.33	.	15.0873	0.72165	0.0:0.0:1.0:0.0	.	651	Q9H6A9	PCX3_HUMAN	S	651	ENSP00000347931:A651S	ENSP00000347931:A651S	A	+	1	0	PCNXL3	65143922	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	8.212000	0.89756	2.643000	0.89663	0.591000	0.81541	GCC		0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		8	13	1	0	0.000157383	0.00308	0.000167241	8	13				
PCNXL3	399909	broad.mit.edu	37	11	65391686	65391686	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65391686G>C	ENST00000355703.3	+	14	3104	c.2565G>C	c.(2563-2565)gcG>gcC	p.A855A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	855						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGTGATCGCGTACAGCCGTC	0.637																																							uc001oey.2		NA																	0					0						c.(2563-2565)GCG>GCC		pecanex-like 3							52.0	59.0	57.0					11																	65391686		2181	4273	6454	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65391686G>C	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2565G>C	11.37:g.65391686G>C						PCNXL3_uc009yqn.2_5'Flank|PCNXL3_uc001oez.2_5'Flank	p.A855A	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			14	2565	+			855			Helical; (Potential).		Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.2565G>C	CCDS44650.1																																																																																				0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		6	16	0	0	0	0.001984	0	6	16				
SF3B2	10992	broad.mit.edu	37	11	65826990	65826990	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65826990A>G	ENST00000322535.6	+	12	1374	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R	SF3B2_ENST00000528302.1_Missense_Mutation_p.K425R	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	442					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TTCTAGGAAAAGAAGCCAGAA	0.502																																							uc001ogy.1		NA																	0				ovary(2)|breast(1)	3						c.(1324-1326)AAG>AGG		splicing factor 3B subunit 2							78.0	85.0	83.0					11																	65826990		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826990A>G	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1325A>G	11.37:g.65826990A>G	ENSP00000318861:p.Lys442Arg						p.K442R	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			12	1365	+			442					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1325A>G	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043726	0.36085	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	4.78	4.78	0.61160	.	0.305062	0.36444	N	0.002585	T	0.42426	0.1202	N	0.22421	0.69	0.37118	D	0.900672	B	0.06786	0.001	B	0.04013	0.001	T	0.42982	-0.9419	9	0.32370	T	0.25	-33.4115	12.3055	0.54900	1.0:0.0:0.0:0.0	.	442	Q13435	SF3B2_HUMAN	R	425;442;346	.	ENSP00000318861:K442R	K	+	2	0	SF3B2	65583566	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.378000	0.52432	1.993000	0.58246	0.454000	0.30748	AAG		0.502	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			30	72	0	0	0	0.008361	0	30	72				
TMEM151A	256472	broad.mit.edu	37	11	66062088	66062088	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:66062088C>A	ENST00000327259.4	+	2	515	c.371C>A	c.(370-372)tCc>tAc	p.S124Y		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	124						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CACGTGCGGTCCTGCCAGGCG	0.687																																							uc001ohl.2		NA																	0				central_nervous_system(1)	1						c.(370-372)TCC>TAC		transmembrane protein 151A							57.0	40.0	46.0					11																	66062088		2196	4287	6483	SO:0001583	missense	256472					integral to membrane		g.chr11:66062088C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.371C>A	11.37:g.66062088C>A	ENSP00000326244:p.Ser124Tyr						p.S124Y	NM_153266	NP_694998	Q8N4L1	T151A_HUMAN			2	483	+			124					Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.371C>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797108	0.31777	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.69	4.69	0.59074	.	0.261257	0.31123	N	0.008208	T	0.26666	0.0652	N	0.24115	0.695	0.31345	N	0.683167	P	0.47191	0.891	B	0.41088	0.347	T	0.09574	-1.0668	9	0.08837	T	0.75	.	12.9686	0.58499	0.0:1.0:0.0:0.0	.	124	Q8N4L1	T151A_HUMAN	Y	124	.	ENSP00000326244:S124Y	S	+	2	0	TMEM151A	65818664	0.197000	0.23362	0.779000	0.31741	0.991000	0.79684	1.968000	0.40500	2.438000	0.82558	0.561000	0.74099	TCC		0.687	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		9	23	1	0	0.000442599	0.006214	0.000466224	9	23				
TBX10	347853	broad.mit.edu	37	11	67402313	67402313	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67402313G>A	ENST00000335385.3	-	3	438	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	117					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						CCAGGGGGATGAAGTCCATGA	0.632																																							uc001omp.2		NA																	0					0						c.(349-351)TTC>TTT		T-box 10							69.0	70.0	70.0					11																	67402313		2200	4294	6494	SO:0001819	synonymous_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402313G>A	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.351C>T	11.37:g.67402313G>A							p.F117F	NM_005995	NP_005986	O75333	TBX10_HUMAN			3	439	-			117			T-box.		Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	c.351C>T	CCDS31621.1																																																																																				0.632	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		25	51	0	0	0	0.003954	0	25	51				
SUV420H1	51111	broad.mit.edu	37	11	67925397	67925397	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925397G>C	ENST00000304363.4	-	11	2769	c.2416C>G	c.(2416-2418)Ctt>Gtt	p.L806V		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	806					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGAGAGAAAGAGGATCACTG	0.438																																							uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(2416-2418)CTT>GTT		suppressor of variegation 4-20 homolog 1 isoform							182.0	195.0	190.0					11																	67925397		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925397G>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2416C>G	11.37:g.67925397G>C	ENSP00000305899:p.Leu806Val					SUV420H1_uc009yse.1_Missense_Mutation_p.L392V|SUV420H1_uc001onn.1_Missense_Mutation_p.L634V|SUV420H1_uc009ysf.2_Missense_Mutation_p.L566V	p.L806V	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2672	-			806					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2416C>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605076	0.46423	.	.	ENSG00000110066	ENST00000304363	T	0.46819	0.86	5.71	5.71	0.89125	.	0.233514	0.34531	N	0.003887	T	0.54175	0.1842	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.52298	-0.8594	10	0.44086	T	0.13	-14.9823	13.0924	0.59172	0.073:0.0:0.927:0.0	.	806	Q4FZB7	SV421_HUMAN	V	806	ENSP00000305899:L806V	ENSP00000305899:L806V	L	-	1	0	SUV420H1	67681973	1.000000	0.71417	0.077000	0.20336	0.924000	0.55760	4.994000	0.63901	2.710000	0.92621	0.491000	0.48974	CTT		0.438	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		140	107	0	0	0	0.00361	0	140	107				
SUV420H1	51111	broad.mit.edu	37	11	67925427	67925427	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925427G>A	ENST00000304363.4	-	11	2739	c.2386C>T	c.(2386-2388)Cat>Tat	p.H796Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	796					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCATTTTCATGAAGCCCCTCT	0.408																																							uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(2386-2388)CAT>TAT		suppressor of variegation 4-20 homolog 1 isoform							201.0	218.0	212.0					11																	67925427		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925427G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2386C>T	11.37:g.67925427G>A	ENSP00000305899:p.His796Tyr					SUV420H1_uc009yse.1_Missense_Mutation_p.H382Y|SUV420H1_uc001onn.1_Missense_Mutation_p.H624Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.H556Y	p.H796Y	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2642	-			796					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2386C>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331208	0.41297	.	.	ENSG00000110066	ENST00000304363	T	0.46819	0.86	4.96	4.96	0.65561	.	0.680368	0.15638	N	0.252026	T	0.38108	0.1028	N	0.24115	0.695	0.80722	D	1	P	0.45569	0.861	B	0.43413	0.419	T	0.12889	-1.0530	10	0.37606	T	0.19	-11.5456	13.3738	0.60726	0.0:0.0:0.8427:0.1573	.	796	Q4FZB7	SV421_HUMAN	Y	796	ENSP00000305899:H796Y	ENSP00000305899:H796Y	H	-	1	0	SUV420H1	67682003	0.993000	0.37304	0.025000	0.17156	0.845000	0.48019	5.275000	0.65575	2.593000	0.87608	0.491000	0.48974	CAT		0.408	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		154	115	0	0	0	0.00361	0	154	115				
SUV420H1	51111	broad.mit.edu	37	11	67925554	67925554	+	Silent	SNP	G	G	A	rs146549090	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925554G>A	ENST00000304363.4	-	11	2612	c.2259C>T	c.(2257-2259)aaC>aaT	p.N753N		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	753					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.N753N(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GATTGTTATCGTTGTCATGGT	0.363													G|||	4	0.000798722	0.0023	0.0	5008	,	,		24065	0.0		0.0	False		,,,				2504	0.001						uc001onm.1		NA																	2	Substitution - coding silent(2)		large_intestine(1)|endometrium(1)	ovary(2)|kidney(1)	3						c.(2257-2259)AAC>AAT		suppressor of variegation 4-20 homolog 1 isoform		G		6,4394	11.4+/-27.6	0,6,2194	184.0	189.0	187.0		2259	-9.7	0.0	11	dbSNP_134	187	0,8588		0,0,4294	no	coding-synonymous	SUV420H1	NM_017635.3		0,6,6488	AA,AG,GG		0.0,0.1364,0.0462		753/886	67925554	6,12982	2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925554G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2259C>T	11.37:g.67925554G>A						SUV420H1_uc009yse.1_Silent_p.N339N|SUV420H1_uc001onn.1_Silent_p.N581N|SUV420H1_uc009ysf.2_Silent_p.N513N	p.N753N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2515	-			753					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.2259C>T	CCDS31623.1																																																																																				0.363	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		106	96	0	0	0	0.00361	0	106	96				
SUV420H1	51111	broad.mit.edu	37	11	67925786	67925786	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67925786G>A	ENST00000304363.4	-	11	2380	c.2027C>T	c.(2026-2028)tCa>tTa	p.S676L		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	676					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGTCACAACTGAACAACCGAC	0.473																																							uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(2026-2028)TCA>TTA		suppressor of variegation 4-20 homolog 1 isoform							101.0	91.0	94.0					11																	67925786		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925786G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2027C>T	11.37:g.67925786G>A	ENSP00000305899:p.Ser676Leu					SUV420H1_uc009yse.1_Missense_Mutation_p.S262L|SUV420H1_uc001onn.1_Missense_Mutation_p.S504L|SUV420H1_uc009ysf.2_Missense_Mutation_p.S436L	p.S676L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2283	-			676					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2027C>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595779	0.86953	.	.	ENSG00000110066	ENST00000304363	T	0.47869	0.83	5.04	5.04	0.67666	.	0.415027	0.26612	N	0.023412	T	0.37652	0.1011	N	0.19112	0.55	0.80722	D	1	B	0.24258	0.1	B	0.26770	0.073	T	0.15150	-1.0447	10	0.38643	T	0.18	-0.4229	18.5684	0.91126	0.0:0.0:1.0:0.0	.	676	Q4FZB7	SV421_HUMAN	L	676	ENSP00000305899:S676L	ENSP00000305899:S676L	S	-	2	0	SUV420H1	67682362	0.995000	0.38212	0.007000	0.13788	0.615000	0.37417	4.535000	0.60629	2.623000	0.88846	0.491000	0.48974	TCA		0.473	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		36	26	0	0	0	0.003271	0	36	26				
SUV420H1	51111	broad.mit.edu	37	11	67926066	67926066	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67926066G>T	ENST00000304363.4	-	11	2100	c.1747C>A	c.(1747-1749)Cct>Act	p.P583T		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	583					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAGCACAGGAGCTGGCTGC	0.507																																							uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(1747-1749)CCT>ACT		suppressor of variegation 4-20 homolog 1 isoform							114.0	108.0	110.0					11																	67926066		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926066G>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1747C>A	11.37:g.67926066G>T	ENSP00000305899:p.Pro583Thr					SUV420H1_uc009yse.1_Missense_Mutation_p.P169T|SUV420H1_uc001onn.1_Missense_Mutation_p.P411T|SUV420H1_uc009ysf.2_Missense_Mutation_p.P343T	p.P583T	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2003	-			583					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1747C>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170748	0.21621	.	.	ENSG00000110066	ENST00000304363	T	0.44881	0.91	5.07	3.09	0.35607	.	2.577270	0.01326	N	0.011095	T	0.33118	0.0852	N	0.19112	0.55	0.29355	N	0.865042	B	0.26672	0.156	B	0.23852	0.049	T	0.28299	-1.0048	10	0.39692	T	0.17	-4.1235	9.6427	0.39848	0.0746:0.3236:0.6019:0.0	.	583	Q4FZB7	SV421_HUMAN	T	583	ENSP00000305899:P583T	ENSP00000305899:P583T	P	-	1	0	SUV420H1	67682642	0.997000	0.39634	0.105000	0.21289	0.189000	0.23516	2.360000	0.44151	0.611000	0.30052	0.491000	0.48974	CCT		0.507	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		89	53	1	0	7.68447e-34	0.00361	1.3152e-33	89	53				
SUV420H1	51111	broad.mit.edu	37	11	67926533	67926533	+	Missense_Mutation	SNP	G	G	C	rs71459689		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67926533G>C	ENST00000304363.4	-	11	1633	c.1280C>G	c.(1279-1281)tCt>tGt	p.S427C		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	427					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTTAGCTTAGATGAGGTAGA	0.378																																							uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(1279-1281)TCT>TGT		suppressor of variegation 4-20 homolog 1 isoform							114.0	116.0	115.0					11																	67926533		2199	4294	6493	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926533G>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1280C>G	11.37:g.67926533G>C	ENSP00000305899:p.Ser427Cys					SUV420H1_uc009yse.1_Missense_Mutation_p.S13C|SUV420H1_uc001onn.1_Missense_Mutation_p.S255C|SUV420H1_uc009ysf.2_Missense_Mutation_p.S187C	p.S427C	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	1536	-			427					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1280C>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967303	0.92855	.	.	ENSG00000110066	ENST00000304363	T	0.54675	0.56	5.55	5.55	0.83447	.	0.112873	0.64402	D	0.000006	T	0.57888	0.2084	L	0.32530	0.975	0.80722	D	1	D	0.64830	0.994	P	0.53722	0.733	T	0.59904	-0.7366	10	0.72032	D	0.01	-12.0947	19.7069	0.96076	0.0:0.0:1.0:0.0	.	427	Q4FZB7	SV421_HUMAN	C	427	ENSP00000305899:S427C	ENSP00000305899:S427C	S	-	2	0	SUV420H1	67683109	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.263000	0.95617	2.894000	0.99253	0.591000	0.81541	TCT		0.378	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		43	31	0	0	0	0.002522	0	43	31				
SUV420H1	51111	broad.mit.edu	37	11	67926536	67926536	+	Missense_Mutation	SNP	G	G	A	rs199872518		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:67926536G>A	ENST00000304363.4	-	11	1630	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	426					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAGCTTAGATGAGGTAGAGTT	0.368																																							uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(1276-1278)TCA>TTA		suppressor of variegation 4-20 homolog 1 isoform							118.0	120.0	119.0					11																	67926536		2199	4294	6493	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926536G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1277C>T	11.37:g.67926536G>A	ENSP00000305899:p.Ser426Leu					SUV420H1_uc009yse.1_Missense_Mutation_p.S12L|SUV420H1_uc001onn.1_Missense_Mutation_p.S254L|SUV420H1_uc009ysf.2_Missense_Mutation_p.S186L	p.S426L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	1533	-			426					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1277C>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378538	0.95945	.	.	ENSG00000110066	ENST00000304363	T	0.52295	0.67	5.55	5.55	0.83447	.	0.064893	0.64402	D	0.000005	T	0.60919	0.2306	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.60337	-0.7283	10	0.56958	D	0.05	-14.0177	19.7069	0.96076	0.0:0.0:1.0:0.0	.	426	Q4FZB7	SV421_HUMAN	L	426	ENSP00000305899:S426L	ENSP00000305899:S426L	S	-	2	0	SUV420H1	67683112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.263000	0.95617	2.894000	0.99253	0.591000	0.81541	TCA		0.368	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		41	31	0	0	0	0.007835	0	41	31				
MYEOV	26579	broad.mit.edu	37	11	69063426	69063426	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:69063426G>T	ENST00000308946.3	+	3	959	c.509G>T	c.(508-510)aGa>aTa	p.R170I	MYEOV_ENST00000441339.2_Missense_Mutation_p.R170I|MYEOV_ENST00000535407.1_Missense_Mutation_p.R112I	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	170										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GAAGCCTTTAGAGTGGGCGTT	0.582																																							uc001oov.2		NA																	0					0						c.(508-510)AGA>ATA		myeloma overexpressed							208.0	198.0	202.0					11																	69063426		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063426G>T	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.509G>T	11.37:g.69063426G>T	ENSP00000308330:p.Arg170Ile					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R170I|MYEOV_uc001oow.2_Missense_Mutation_p.R112I	p.R170I	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	959	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		170					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.509G>T	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116517	0.06838	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25579	1.8;1.8;1.79	1.3	-2.59	0.06209	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.20207	-1.0282	9	0.87932	D	0	.	1.0198	0.01515	0.2174:0.2447:0.3636:0.1742	.	170	Q96EZ4	MYEOV_HUMAN	I	170;170;112	ENSP00000412482:R170I;ENSP00000308330:R170I;ENSP00000438100:R112I	ENSP00000308330:R170I	R	+	2	0	MYEOV	68820002	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.990000	0.03732	-2.407000	0.00574	-2.629000	0.00154	AGA		0.582	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			69	184	1	0	5.22007e-41	0.00361	9.25354e-41	69	184				
FGF4	2249	broad.mit.edu	37	11	69589549	69589549	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:69589549C>A	ENST00000168712.1	-	1	622	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C	AP001888.1_ENST00000602104.1_5'Flank|FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	102					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	CCGATGCGGCCGTCGGGGAGC	0.771																																							uc001opg.1		NA																	0					0						c.(304-306)GGC>TGC		fibroblast growth factor 4 precursor	Pentosan Polysulfate(DB00686)						4.0	4.0	4.0					11																	69589549		1892	3787	5679	SO:0001583	missense	2249				cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding	g.chr11:69589549C>A	M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"""Endogenous ligands"""	3682	protein-coding gene	gene with protein product	"""human stomach cancer, transforming factor from FGF-related oncogene"", ""kaposi sarcoma oncogene"", ""transforming protein KS3"""	164980	"""heparin secretory transforming protein 1"""	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.304G>T	11.37:g.69589549C>A	ENSP00000168712:p.Gly102Cys					FGF4_uc010rqj.1_Missense_Mutation_p.G102C	p.G102C	NM_002007	NP_001998	P08620	FGF4_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		1	623	-	Melanoma(5;1.89e-05)		102					B7U994	Missense_Mutation	SNP	ENST00000168712.1	37	c.304G>T	CCDS8194.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645665	0.87958	.	.	ENSG00000075388	ENST00000168712	D	0.87966	-2.32	4.5	4.5	0.54988	.	0.000000	0.46145	D	0.000311	D	0.95608	0.8572	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96365	0.9269	9	.	.	.	.	11.4712	0.50270	0.0:0.9101:0.0:0.0899	.	102;102	B7U994;P08620	.;FGF4_HUMAN	C	102	ENSP00000168712:G102C	.	G	-	1	0	FGF4	69298730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.437000	0.59955	2.053000	0.61076	0.561000	0.74099	GGC		0.771	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396834.2	NM_002007		4	2	1	0	1.23904e-05	0.000602	1.35614e-05	4	2				
PPFIA1	8500	broad.mit.edu	37	11	70171001	70171001	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:70171001C>G	ENST00000253925.7	+	4	630	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.L139V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	139					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCGGTCTCTTAGGATGAC	0.448																																							uc001opo.2		NA																	0				lung(2)|ovary(1)	3						c.(415-417)CTT>GTT		PTPRF interacting protein alpha 1 isoform b							142.0	148.0	146.0					11																	70171001		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171001C>G	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.415C>G	11.37:g.70171001C>G	ENSP00000253925:p.Leu139Val					PPFIA1_uc001opn.1_Missense_Mutation_p.L139V|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	p.L139V	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		4	613	+			139			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.415C>G	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417590	0.83449	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746	T;T;T	0.49720	0.82;0.82;0.77	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000009	T	0.59662	0.2210	L	0.29908	0.895	0.58432	D	0.999993	D;D	0.76494	0.989;0.999	D;D	0.75484	0.968;0.986	T	0.63795	-0.6556	10	0.87932	D	0	.	19.0243	0.92926	0.0:1.0:0.0:0.0	.	139;139	Q13136;Q13136-2	LIPA1_HUMAN;.	V	139	ENSP00000253925:L139V;ENSP00000374198:L139V;ENSP00000432722:L139V	ENSP00000253925:L139V	L	+	1	0	PPFIA1	69848649	1.000000	0.71417	0.060000	0.19600	0.984000	0.73092	5.772000	0.68889	2.558000	0.86282	0.650000	0.86243	CTT		0.448	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		56	145	0	0	0	0.00361	0	56	145				
ARHGEF17	9828	broad.mit.edu	37	11	73071371	73071371	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:73071371G>T	ENST00000263674.3	+	11	4563	c.4213G>T	c.(4213-4215)Gac>Tac	p.D1405Y		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1405					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACAGAGCCTGGACGATGCACT	0.637																																							uc001otu.2		NA																	0					0						c.(4213-4215)GAC>TAC		Rho guanine nucleotide exchange factor (GEF) 17							68.0	76.0	73.0					11																	73071371		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071371G>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4213G>T	11.37:g.73071371G>T	ENSP00000263674:p.Asp1405Tyr						p.D1405Y	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			11	4234	+			1405					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.4213G>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128460	0.77549	.	.	ENSG00000110237	ENST00000263674	T	0.34472	1.36	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61187	-0.7113	10	0.87932	D	0	-20.7847	18.7705	0.91890	0.0:0.0:1.0:0.0	.	1405	Q96PE2	ARHGH_HUMAN	Y	1405	ENSP00000263674:D1405Y	ENSP00000263674:D1405Y	D	+	1	0	ARHGEF17	72749019	1.000000	0.71417	0.987000	0.45799	0.429000	0.31625	9.597000	0.98273	2.677000	0.91161	0.561000	0.74099	GAC		0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		30	100	1	0	5.97227e-30	0.002096	9.94007e-30	30	100				
CHRDL2	25884	broad.mit.edu	37	11	74413894	74413894	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:74413894G>T	ENST00000376332.3	-	9	1561	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A355A	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	355					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CGTGTTCCAGGGCAAAGCGAC	0.612											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001ovi.2		NA																	0					0						c.(1063-1065)GCC>GCA		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;							126.0	121.0	123.0					11																	74413894		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74413894G>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1065C>A	11.37:g.74413894G>T			OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	CHRDL2_uc001ovg.2_Silent_p.A239A|CHRDL2_uc001ovh.2_Silent_p.A355A|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Silent_p.A290A	p.A355A			Q6WN34	CRDL2_HUMAN			9	1318	-	Hepatocellular(1;0.098)		355					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.1065C>A		.	.	.	.	.	.	.	.	.	.	G	6.239	0.412299	0.11812	.	.	ENSG00000054938	ENST00000525413	.	.	.	5.09	4.17	0.49024	.	.	.	.	.	T	0.60025	0.2237	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57359	-0.7825	4	.	.	.	-15.4512	9.811	0.40824	0.096:0.0:0.904:0.0	.	.	.	.	H	155	.	.	P	-	2	0	CHRDL2	74091542	0.999000	0.42202	0.998000	0.56505	0.465000	0.32709	0.542000	0.23222	1.271000	0.44313	0.561000	0.74099	CCC		0.612	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			37	37	1	0	3.33393e-15	0.004878	4.49953e-15	37	37				
MAP6	4135	broad.mit.edu	37	11	75298606	75298606	+	Missense_Mutation	SNP	G	G	A	rs140994962	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:75298606G>A	ENST00000304771.3	-	4	2690	c.1940C>T	c.(1939-1941)cCg>cTg	p.P647L	MAP6_ENST00000526740.1_Missense_Mutation_p.P318L|MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	647	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.P647Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTCATCCTTCGGATGCTCTGG	0.517																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1939-1941)CCG>CTG		microtubule-associated protein 6 isoform 1		G	LEU/PRO	2,4398	4.2+/-10.8	1,0,2199	166.0	151.0	156.0		1940	-9.8	0.0	11	dbSNP_134	156	0,8586		0,0,4293	yes	missense	MAP6	NM_033063.1	98	1,0,6492	AA,AG,GG		0.0,0.0455,0.0154	benign	647/814	75298606	2,12984	2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298606G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1940C>T	11.37:g.75298606G>A	ENSP00000307093:p.Pro647Leu						p.P647L	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	2005	-	Ovarian(111;0.11)		647			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1940C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.641840	0.00799	4.55E-4	0.0	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.39592	1.07	4.88	-9.77	0.00500	.	3.533280	0.00721	N	0.000888	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	10	0.26408	T	0.33	12.6694	2.8435	0.05536	0.1723:0.2556:0.3637:0.2084	.	647	Q96JE9	MAP6_HUMAN	L	647;318;318	ENSP00000307093:P647L	ENSP00000307093:P647L	P	-	2	0	MAP6	74976254	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.354000	0.01089	-4.384000	0.00052	-2.118000	0.00350	CCG		0.517	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		103	68	0	0	0	0.00361	0	103	68				
OMP	4975	broad.mit.edu	37	11	76814343	76814343	+	Missense_Mutation	SNP	A	A	G	rs373329512		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:76814343A>G	ENST00000529803.1	+	1	458	c.458A>G	c.(457-459)aAc>aGc	p.N153S	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	153					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGCCCGCCAACCTCAAGGCC	0.632																																							uc010rsk.1		NA																	0					0						c.(457-459)AAC>AGC		olfactory marker protein		A	,SER/ASN	0,3974		0,0,1987	59.0	64.0	63.0		,458	5.3	1.0	11		63	1,8297		0,1,4148	no	intron,missense	CAPN5,OMP	NM_004055.4,NM_006189.1	,46	0,1,6135	GG,GA,AA		0.0121,0.0,0.0081	,benign	,153/164	76814343	1,12271	1987	4149	6136	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814343A>G	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.458A>G	11.37:g.76814343A>G	ENSP00000436376:p.Asn153Ser					CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	p.N153S	NM_006189	NP_006180	P47874	OMP_HUMAN			1	458	+			153					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.458A>G	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	A	0.468	-0.885599	0.02511	0.0	1.21E-4	ENSG00000254550	ENST00000529803	T	0.28454	1.61	5.29	5.29	0.74685	.	.	.	.	.	T	0.13884	0.0336	N	0.03608	-0.345	0.31125	N	0.708424	B	0.09022	0.002	B	0.11329	0.006	T	0.14448	-1.0472	9	0.15499	T	0.54	.	10.6726	0.45768	0.8399:0.1601:0.0:0.0	.	153	P47874	OMP_HUMAN	S	153	ENSP00000436376:N153S	ENSP00000436376:N153S	N	+	2	0	OMP	76491991	0.993000	0.37304	0.977000	0.42913	0.310000	0.27922	2.765000	0.47621	2.225000	0.72522	0.379000	0.24179	AAC		0.632	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		70	49	0	0	0	0.00361	0	70	49				
TENM4	26011	broad.mit.edu	37	11	78383237	78383237	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:78383237G>T	ENST00000278550.7	-	31	6096	c.5634C>A	c.(5632-5634)agC>agA	p.S1878R		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1878					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CATTCAGCCTGCTGCTGGGTG	0.577																																							uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(5632-5634)AGC>AGA		odz, odd Oz/ten-m homolog 4							58.0	61.0	60.0					11																	78383237		1999	4154	6153	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78383237G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5634C>A	11.37:g.78383237G>T	ENSP00000278550:p.Ser1878Arg					ODZ4_uc001ozk.3_Missense_Mutation_p.S103R|ODZ4_uc009yvb.1_Missense_Mutation_p.S462R	p.S1878R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			31	6097	-			1878			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5634C>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279392	0.80692	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90620	-2.7;0.7	5.55	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	M	0.79805	2.47	0.51767	D	0.999939	D	0.71674	0.998	D	0.75484	0.986	D	0.94990	0.8133	9	.	.	.	.	14.3201	0.66479	0.0704:0.0:0.9296:0.0	.	1878	Q6N022	TEN4_HUMAN	R	1878;342	ENSP00000278550:S1878R;ENSP00000431711:S342R	.	S	-	3	2	ODZ4	78060885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.533000	0.45667	1.583000	0.49898	0.655000	0.94253	AGC		0.577	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			14	38	1	0	6.31663e-08	0.003163	7.33275e-08	14	38				
SYTL2	54843	broad.mit.edu	37	11	85438967	85438967	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:85438967T>A	ENST00000528231.1	-	7	1708	c.1431A>T	c.(1429-1431)ccA>ccT	p.P477P	SYTL2_ENST00000359152.5_Silent_p.P35P|SYTL2_ENST00000527523.1_Silent_p.P429P|SYTL2_ENST00000316356.4_Silent_p.P478P|SYTL2_ENST00000389960.4_Silent_p.P477P|SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000524452.1_Silent_p.P477P|SYTL2_ENST00000525423.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	477					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AACTGCCACCTGGCACCTGAG	0.448																																							uc010rth.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1429-1431)CCA>CCT		synaptotagmin-like 2 isoform g							87.0	79.0	81.0					11																	85438967		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85438967T>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1431A>T	11.37:g.85438967T>A						SYTL2_uc010rtg.1_Silent_p.P478P|SYTL2_uc010rti.1_Silent_p.P477P|SYTL2_uc010rtj.1_Silent_p.P429P|SYTL2_uc009yvj.2_5'Flank|SYTL2_uc001pbd.2_5'Flank|SYTL2_uc001pbb.2_5'Flank|SYTL2_uc001pbc.2_5'Flank|SYTL2_uc010rtf.1_Silent_p.P335P	p.P477P	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1707	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	477					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.1431A>T	CCDS53688.1																																																																																				0.448	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		10	26	0	0	0	0.008291	0	10	26				
CCDC81	60494	broad.mit.edu	37	11	86126174	86126174	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:86126174G>T	ENST00000445632.2	+	13	1782	c.1510G>T	c.(1510-1512)Gac>Tac	p.D504Y	CCDC81_ENST00000528728.1_Missense_Mutation_p.D239Y|CCDC81_ENST00000278487.3_Missense_Mutation_p.D239Y|CCDC81_ENST00000354755.1_Missense_Mutation_p.D414Y	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	504										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTTTGAGCCAGACTCCTCTGA	0.453																																							uc001pbx.1		NA																	0				skin(1)	1						c.(1510-1512)GAC>TAC		coiled-coil domain containing 81 isoform 1							49.0	52.0	51.0					11																	86126174		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86126174G>T	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1510G>T	11.37:g.86126174G>T	ENSP00000415528:p.Asp504Tyr					CCDC81_uc001pbw.1_Missense_Mutation_p.D414Y|CCDC81_uc010rtq.1_Missense_Mutation_p.D287Y|CCDC81_uc001pby.1_Missense_Mutation_p.D239Y	p.D504Y	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN			13	1938	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	504					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1510G>T	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518983	0.64634	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.64	4.72	0.59763	.	0.495882	0.21203	N	0.078438	T	0.59865	0.2225	M	0.72894	2.215	0.41937	D	0.990598	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76071	0.964;0.974;0.987	T	0.59836	-0.7379	9	.	.	.	-4.9657	9.8372	0.40977	0.1496:0.0:0.8504:0.0	.	239;504;414	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	Y	414;239;504;239	ENSP00000346800:D414Y;ENSP00000278487:D239Y;ENSP00000415528:D504Y;ENSP00000437165:D239Y	.	D	+	1	0	CCDC81	85803822	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.080000	0.50112	2.653000	0.90120	0.650000	0.86243	GAC		0.453	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		41	27	1	0	1.06522e-23	0.003214	1.65872e-23	41	27				
GRM5	2915	broad.mit.edu	37	11	88300288	88300288	+	Missense_Mutation	SNP	C	C	T	rs376576529	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:88300288C>T	ENST00000305447.4	-	7	2712	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T	GRM5_ENST00000393297.1_Missense_Mutation_p.A855T|GRM5_ENST00000418177.2_Missense_Mutation_p.A855T|GRM5_ENST00000455756.2_Missense_Mutation_p.A855T|GRM5_ENST00000305432.5_Missense_Mutation_p.A855T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	855					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A855T(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTGCTGGCTGCGGAGGATGAC	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		21002	0.002		0.0	False		,,,				2504	0.0						uc001pcq.2		NA																	1	Substitution - Missense(1)		ovary(1)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2563-2565)GCA>ACA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)	C	THR/ALA,THR/ALA	0,4402		0,0,2201	87.0	76.0	80.0		2563,2563	5.7	0.2	11		80	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	GRM5	NM_000842.3,NM_001143831.2	58,58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	855/1181,855/1213	88300288	1,12999	2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300288C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2563G>A	11.37:g.88300288C>T	ENSP00000306138:p.Ala855Thr					GRM5_uc009yvm.2_Missense_Mutation_p.A855T	p.A855T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2763	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	855			Cytoplasmic (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2563G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787247	0.70337	0.0	1.16E-4	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88277	-2.34;-2.35;-2.35;-2.34;-2.36	5.71	5.71	0.89125	.	0.095077	0.64402	D	0.000001	D	0.89949	0.6863	L	0.42245	1.32	0.58432	D	0.999996	D;P	0.59767	0.986;0.9	P;B	0.52627	0.704;0.167	D	0.88299	0.2948	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	855;855	P41594-2;P41594	.;GRM5_HUMAN	T	855	ENSP00000402912:A855T;ENSP00000405690:A855T;ENSP00000305905:A855T;ENSP00000306138:A855T;ENSP00000376975:A855T	.	A	-	1	0	GRM5	87939936	1.000000	0.71417	0.233000	0.24025	0.995000	0.86356	4.934000	0.63491	2.709000	0.92574	0.655000	0.94253	GCA		0.567	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		26	64	0	0	0	0.005443	0	26	64				
FOLH1B	219595	broad.mit.edu	37	11	89431656	89431656	+	RNA	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:89431656T>C	ENST00000532352.1	+	0	1938							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTCTGTTTGATATTGAAAGCA	0.473																																							uc001pda.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1216-1218)GAT>GAC		folate hydrolase 1B							114.0	111.0	112.0					11																	89431656		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89431656T>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431656T>C							p.D406D	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			14	1744	+			406						Silent	SNP	ENST00000532352.1	37	c.1218T>C																																																																																					0.473	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		52	29	0	0	0	0.00361	0	52	29				
FAT3	120114	broad.mit.edu	37	11	92086518	92086518	+	Missense_Mutation	SNP	G	G	T	rs372377950		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:92086518G>T	ENST00000298047.6	+	1	1257	c.1240G>T	c.(1240-1242)Ggt>Tgt	p.G414C	FAT3_ENST00000525166.1_Missense_Mutation_p.G264C|FAT3_ENST00000541502.1_Missense_Mutation_p.G414C|FAT3_ENST00000409404.2_Missense_Mutation_p.G414C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTATCTCCTGGTGAGGATGC	0.418										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(1240-1242)GGT>TGT		FAT tumor suppressor homolog 3							73.0	68.0	70.0					11																	92086518		1860	4100	5960	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086518G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1240G>T	11.37:g.92086518G>T	ENSP00000298047:p.Gly414Cys	TCGA Ovarian(4;0.039)					p.G414C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1257	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	414			Extracellular (Potential).|Cadherin 4.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.1240G>T		.	.	.	.	.	.	.	.	.	.	G	17.50	3.405131	0.62288	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.62	4.71	0.59529	.	.	.	.	.	T	0.71384	0.3333	M	0.88979	2.995	0.47065	D	0.999306	D	0.60575	0.988	P	0.46479	0.518	T	0.76790	-0.2829	9	0.72032	D	0.01	.	6.0624	0.19844	0.2368:0.0:0.7632:0.0	.	414	Q8TDW7-3	.	C	414;414;414;264	ENSP00000298047:G414C;ENSP00000387040:G414C;ENSP00000443786:G414C;ENSP00000432586:G264C	ENSP00000298047:G414C	G	+	1	0	FAT3	91726166	0.992000	0.36948	0.982000	0.44146	0.964000	0.63967	2.549000	0.45803	2.642000	0.89623	0.655000	0.94253	GGT		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	30	1	0	8.12818e-05	0.001984	8.70909e-05	7	30				
AMOTL1	154810	broad.mit.edu	37	11	94602374	94602374	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:94602374G>C	ENST00000433060.2	+	12	2641	c.2500G>C	c.(2500-2502)Ggg>Cgg	p.G834R	AMOTL1_ENST00000317837.9_Missense_Mutation_p.G421R|AMOTL1_ENST00000317829.8_Missense_Mutation_p.G784R	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	834					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATTGCTGCTGGGGAAGGAGCA	0.498																																							uc001pfb.2		NA																	0				ovary(1)|breast(1)	2						c.(2500-2502)GGG>CGG		angiomotin like 1							28.0	34.0	32.0					11																	94602374		2089	4228	6317	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94602374G>C	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2500G>C	11.37:g.94602374G>C	ENSP00000387739:p.Gly834Arg					AMOTL1_uc001pfc.2_Missense_Mutation_p.G784R	p.G834R	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			12	2670	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	834					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2500G>C	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547519	0.86022	.	.	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	T;T;T	0.58940	1.98;0.3;1.96	5.59	5.59	0.84812	.	0.071160	0.64402	N	0.000018	T	0.74465	0.3720	L	0.57536	1.79	0.39101	D	0.961291	D;P	0.89917	1.0;0.952	D;P	0.87578	0.998;0.677	T	0.75439	-0.3317	10	0.52906	T	0.07	-40.1701	19.5963	0.95541	0.0:0.0:1.0:0.0	.	784;834	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	R	784;421;834	ENSP00000320968:G784R;ENSP00000323474:G421R;ENSP00000387739:G834R	ENSP00000320968:G784R	G	+	1	0	AMOTL1	94242022	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.247000	0.78257	2.648000	0.89879	0.561000	0.74099	GGG		0.498	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		8	23	0	0	0	0.008291	0	8	23				
CNTN5	53942	broad.mit.edu	37	11	99827598	99827598	+	Missense_Mutation	SNP	G	G	T	rs563536789	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:99827598G>T	ENST00000524871.1	+	8	1024	c.734G>T	c.(733-735)cGg>cTg	p.R245L	CNTN5_ENST00000418526.2_Missense_Mutation_p.R171L|CNTN5_ENST00000279463.3_Missense_Mutation_p.R245L|CNTN5_ENST00000527185.1_Missense_Mutation_p.R245L|CNTN5_ENST00000528682.1_Missense_Mutation_p.R245L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	245	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GACAGCCGGCGGTTCATCTCC	0.413																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(733-735)CGG>CTG		contactin 5 isoform long							88.0	84.0	85.0					11																	99827598		1853	4087	5940	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827598G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.734G>T	11.37:g.99827598G>T	ENSP00000435637:p.Arg245Leu					CNTN5_uc009ywv.1_Missense_Mutation_p.R245L|CNTN5_uc001pfz.2_Missense_Mutation_p.R245L|CNTN5_uc001pgb.2_Missense_Mutation_p.R171L	p.R245L	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1073	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	245			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.734G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715216	0.89112	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.87974	0.2738	10	0.87932	D	0	.	18.6577	0.91460	0.0:0.0:1.0:0.0	.	245;171;245	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	L	245;245;245;171;245	ENSP00000433575:R245L;ENSP00000436185:R245L;ENSP00000435637:R245L;ENSP00000393229:R171L;ENSP00000279463:R245L	ENSP00000279463:R245L	R	+	2	0	CNTN5	99332808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.711000	0.92665	0.585000	0.79938	CGG		0.413	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		14	49	1	0	6.72482e-11	0.003163	8.32105e-11	14	49				
PGR	5241	broad.mit.edu	37	11	100933247	100933247	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:100933247G>A	ENST00000325455.5	-	4	3596	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	PGR_ENST00000534013.1_Silent_p.L121L|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	715	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AGACTTGTCAGCAAAGAACTG	0.388																																					Pancreas(124;2271 2354 21954 22882)	Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NA																	0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2143-2145)CTG>TTG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						191.0	180.0	184.0					11																	100933247		2203	4300	6503	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933247G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2143C>T	11.37:g.100933247G>A						PGR_uc001pgg.2_Silent_p.L96L|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.L715L	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	2886	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	715			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.2143C>T	CCDS8310.1																																																																																				0.388	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			34	74	0	0	0	0.003755	0	34	74				
DYNC2H1	79659	broad.mit.edu	37	11	103048482	103048482	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:103048482G>T	ENST00000375735.2	+	38	6216	c.6072G>T	c.(6070-6072)atG>atT	p.M2024I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M2024I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2024	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATATTGACATGGACACAAGAG	0.393																																							uc001pho.2		NA																	0					0						c.(6070-6072)ATG>ATT		dynein, cytoplasmic 2, heavy chain 1							123.0	120.0	121.0					11																	103048482		1907	4109	6016	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103048482G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6072G>T	11.37:g.103048482G>T	ENSP00000364887:p.Met2024Ile					DYNC2H1_uc001phn.1_Missense_Mutation_p.M2024I|DYNC2H1_uc009yxe.1_Intron	p.M2024I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	38	6216	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2024			AAA 2 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6072G>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714739	0.68730	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.49139	0.79;0.79	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	T	0.46132	0.1377	L	0.44542	1.39	0.80722	D	1	B;B	0.24186	0.099;0.081	B;B	0.28709	0.093;0.056	T	0.29761	-1.0001	9	0.35671	T	0.21	.	19.4752	0.94985	0.0:0.0:1.0:0.0	.	2024;2024	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2024	ENSP00000364887:M2024I;ENSP00000381167:M2024I	ENSP00000364887:M2024I	M	+	3	0	DYNC2H1	102553692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.610000	0.88304	0.650000	0.86243	ATG		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		14	46	1	0	2.32078e-09	0.003163	2.78437e-09	14	46				
GRIA4	2893	broad.mit.edu	37	11	105804547	105804547	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:105804547C>G	ENST00000530497.1	+	13	2146	c.2146C>G	c.(2146-2148)Cgc>Ggc	p.R716G	AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000525187.1_Missense_Mutation_p.R716G|GRIA4_ENST00000282499.5_Missense_Mutation_p.R716G|GRIA4_ENST00000393127.2_Missense_Mutation_p.R716G			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	716					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGCTCGTGTCCGCAAATCCAA	0.458																																							uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2146-2148)CGC>GGC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						79.0	71.0	74.0					11																	105804547		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105804547C>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2146C>G	11.37:g.105804547C>G	ENSP00000435775:p.Arg716Gly					GRIA4_uc001piw.2_Missense_Mutation_p.R716G|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	p.R716G	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	14	2592	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	716			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2146C>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903856	0.72754	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000002	T	0.76543	0.4002	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	D	0.83716	0.0190	10	0.72032	D	0.01	.	19.4254	0.94740	0.0:1.0:0.0:0.0	.	716;716	P48058;G3V164	GRIA4_HUMAN;.	G	716;716;716;716;21	ENSP00000282499:R716G;ENSP00000376835:R716G;ENSP00000435775:R716G;ENSP00000432180:R716G	ENSP00000282499:R716G	R	+	1	0	GRIA4	105309757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.727000	0.84838	2.595000	0.87683	0.591000	0.81541	CGC		0.458	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			7	31	0	0	0	0.001984	0	7	31				
EXPH5	23086	broad.mit.edu	37	11	108382616	108382616	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:108382616T>A	ENST00000265843.4	-	6	3728	c.3618A>T	c.(3616-3618)tcA>tcT	p.S1206S	EXPH5_ENST00000443411.1_Silent_p.S1018S|EXPH5_ENST00000525344.1_Silent_p.S1199S|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Silent_p.S1130S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1206					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGTCTTCATTTGAAAGAGCAA	0.388																																							uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(3616-3618)TCA>TCT		exophilin 5 isoform a							100.0	102.0	101.0					11																	108382616		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382616T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3618A>T	11.37:g.108382616T>A						EXPH5_uc010rvy.1_Silent_p.S1018S|EXPH5_uc010rvz.1_Silent_p.S1050S|EXPH5_uc010rwa.1_Silent_p.S1130S	p.S1206S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3729	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1206					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.3618A>T	CCDS8341.1																																																																																				0.388	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		24	62	0	0	0	0.00278	0	24	62				
COLCA1	399948	broad.mit.edu	37	11	111166978	111166978	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:111166978T>A	ENST00000532918.1	-	2	2631	c.226A>T	c.(226-228)Agc>Tgc	p.S76C	COLCA1_ENST00000540738.1_Missense_Mutation_p.S76C|COLCA1_ENST00000355430.4_Missense_Mutation_p.S76C|COLCA2_ENST00000398035.2_5'Flank|COLCA1_ENST00000526150.1_5'Flank			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1	76						integral component of membrane (GO:0016021)|membrane (GO:0016020)											CCATAAAGGCTGCTGGAGGTT	0.537																																							uc001pld.2		NA																	0				lung(1)	1						c.(226-228)AGC>TGC		hypothetical protein LOC399948							100.0	84.0	90.0					11																	111166978		2201	4297	6498	SO:0001583	missense	399948							g.chr11:111166978T>A	AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"""cancer susceptibility candidate 12"""	615693	"""chromosome 11 open reading frame 92"""	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.226A>T	11.37:g.111166978T>A	ENSP00000437253:p.Ser76Cys					C11orf92_uc001ple.2_RNA|C11orf93_uc010rwf.1_5'Flank	p.S76C	NM_207429	NP_997312					2	2635	-									Missense_Mutation	SNP	ENST00000532918.1	37	c.226A>T		.	.	.	.	.	.	.	.	.	.	T	12.60	1.987137	0.35036	.	.	ENSG00000196167	ENST00000532918;ENST00000355430;ENST00000540738	.	.	.	3.67	2.53	0.30540	.	.	.	.	.	T	0.51941	0.1704	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.37686	-0.9695	7	0.87932	D	0	.	5.6048	0.17373	0.0:0.1287:0.0:0.8713	.	76	Q6ZS62	CK092_HUMAN	C	76	.	ENSP00000347601:S76C	S	-	1	0	C11orf92	110672188	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.239000	0.18023	0.607000	0.29982	0.459000	0.35465	AGC		0.537	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390999.1			17	50	0	0	0	0.006122	0	17	50				
SDHD	6392	broad.mit.edu	37	11	111959687	111959687	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:111959687C>G	ENST00000375549.3	+	3	401	c.266C>G	c.(265-267)tCt>tGt	p.S89C	TIMM8B_ENST00000507614.1_5'Flank|TIMM8B_ENST00000504148.2_5'Flank|TIMM8B_ENST00000541231.1_5'Flank|SDHD_ENST00000532699.1_Missense_Mutation_p.S89C|SDHD_ENST00000525291.1_Missense_Mutation_p.S50C|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000528182.1_Missense_Mutation_p.S89C|SDHD_ENST00000528021.1_Missense_Mutation_p.S89C|SDHD_ENST00000526592.1_Missense_Mutation_p.S89C	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	89					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	AATCCTTGCTCTGCGATGGAC	0.507			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														uc001pmz.2		NA	yes	Rec		Familial paraganglioma	11	11q23	6392	Mis|N|F|S	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""			O		paraganglioma|pheochromocytoma			0					0						c.(265-267)TCT>TGT		succinate dehydrogenase complex, subunit D	Succinic acid(DB00139)						85.0	83.0	84.0					11																	111959687		2201	4297	6498	SO:0001583	missense	6392	Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	g.chr11:111959687C>G	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.266C>G	11.37:g.111959687C>G	ENSP00000364699:p.Ser89Cys					TIMM8B_uc001pmx.2_5'Flank|TIMM8B_uc001pmy.2_5'Flank	p.S89C	NM_003002	NP_002993	O14521	DHSD_HUMAN		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	3	327	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	89			Mitochondrial intermembrane (By similarity).		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	ENST00000375549.3	37	c.266C>G	CCDS31678.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070519	0.76301	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528021;ENST00000526592;ENST00000525291	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97	5.04	4.09	0.47781	.	0.191566	0.46758	D	0.000274	D	0.98239	0.9417	M	0.79805	2.47	0.30932	N	0.726849	D	0.56521	0.976	P	0.52957	0.714	D	0.97186	0.9854	10	0.62326	D	0.03	-8.1605	14.8153	0.70031	0.1445:0.8555:0.0:0.0	.	89	O14521	DHSD_HUMAN	C	89;89;89;89;50	ENSP00000364699:S89C;ENSP00000435475:S89C;ENSP00000432465:S89C;ENSP00000432005:S89C;ENSP00000436669:S50C	ENSP00000436395:S89C	S	+	2	0	SDHD	111464897	0.858000	0.29795	0.992000	0.48379	0.989000	0.77384	5.532000	0.67154	2.336000	0.79503	0.585000	0.79938	TCT		0.507	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1	NM_003002		21	58	0	0	0	0.010504	0	21	58				
PTS	5805	broad.mit.edu	37	11	112100953	112100953	+	Splice_Site	SNP	G	G	T	rs189051075		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:112100953G>T	ENST00000280362.3	+	3	265	c.186G>T	c.(184-186)gaG>gaT	p.E62D	PTS_ENST00000524931.1_5'UTR|PTS_ENST00000525803.1_Intron	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	62					cellular amino acid metabolic process (GO:0006520)|central nervous system development (GO:0007417)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	6-pyruvoyltetrahydropterin synthase activity (GO:0003874)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		TACATGGAGAGGTATGTGCAG	0.393																																							uc001pnj.3		NA																	0					0						c.(184-186)GAG>GAT		6-pyruvoyltetrahydropterin synthase							376.0	357.0	364.0					11																	112100953		2201	4297	6498	SO:0001630	splice_region_variant	5805				cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding	g.chr11:112100953G>T	U63382	CCDS8359.1	11q22.3	2014-04-01				ENSG00000150787	4.2.3.12		9689	protein-coding gene	gene with protein product		612719				8188266	Standard	NM_000317		Approved	PTPS	uc001pnj.4	Q03393		ENST00000280362.3:c.186+1G>T	11.37:g.112100953G>T						PTS_uc009yyo.2_Intron	p.E62D	NM_000317	NP_000308	Q03393	PTPS_HUMAN		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)	3	265	+		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	62					B0YJ87|Q8WVG8	Missense_Mutation	SNP	ENST00000280362.3	37	c.186G>T	CCDS8359.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145219	0.21288	.	.	ENSG00000150787	ENST00000280362	D	0.99422	-5.88	5.78	4.88	0.63580	.	0.183522	0.51477	D	0.000099	D	0.97999	0.9341	L	0.48260	1.515	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	D	0.97712	1.0191	10	0.33141	T	0.24	-12.3452	11.9252	0.52814	0.0809:0.0:0.9191:0.0	.	62	Q03393	PTPS_HUMAN	D	62	ENSP00000280362:E62D	ENSP00000280362:E62D	E	+	3	2	PTS	111606163	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	3.536000	0.53582	1.460000	0.47911	-0.266000	0.10368	GAG		0.393	PTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393541.1	NM_000317	Missense_Mutation	57	37	1	0	1.42676e-28	0.00361	2.35239e-28	57	37				
USP28	57646	broad.mit.edu	37	11	113670056	113670056	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:113670056G>T	ENST00000003302.4	-	25	3208	c.3140C>A	c.(3139-3141)cCa>cAa	p.P1047Q	USP28_ENST00000545540.1_Missense_Mutation_p.P890Q|USP28_ENST00000544967.1_Missense_Mutation_p.P723Q|USP28_ENST00000260188.5_Missense_Mutation_p.P1015Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1047					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCGAATTGTTGGAGGCTCTTT	0.463																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(3139-3141)CCA>CAA		ubiquitin specific protease 28							121.0	122.0	122.0					11																	113670056		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113670056G>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.3140C>A	11.37:g.113670056G>T	ENSP00000003302:p.Pro1047Gln					USP28_uc001pog.2_Missense_Mutation_p.P723Q|USP28_uc010rwy.1_Missense_Mutation_p.P890Q|USP28_uc001poi.2_Missense_Mutation_p.P370Q	p.P1047Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	25	3173	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	1047					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.3140C>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001746	0.93227	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;D;T	0.82803	-1.2;-1.13;-1.65;-1.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90837	0.7122	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91061	0.4885	10	0.87932	D	0	-12.9347	19.8677	0.96824	0.0:0.0:1.0:0.0	.	890;1047;723	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Q	1047;1015;723;890	ENSP00000003302:P1047Q;ENSP00000260188:P1015Q;ENSP00000442431:P723Q;ENSP00000444991:P890Q	ENSP00000003302:P1047Q	P	-	2	0	USP28	113175266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.544000	0.82117	2.709000	0.92574	0.655000	0.94253	CCA		0.463	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			30	87	1	0	3.80469e-20	0.009535	5.61701e-20	30	87				
RNF214	257160	broad.mit.edu	37	11	117153860	117153860	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117153860G>A	ENST00000531452.1	+	14	2026	c.1980G>A	c.(1978-1980)atG>atA	p.M660I	RNF214_ENST00000530849.1_Missense_Mutation_p.M470I|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531287.1_Missense_Mutation_p.M505I|RNF214_ENST00000300650.4_Missense_Mutation_p.M660I	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	660							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TATGTCTAATGTGCCAGAAAC	0.488																																							uc001pqt.2		NA																	0					0						c.(1978-1980)ATG>ATA		ring finger protein 214							89.0	87.0	88.0					11																	117153860		1996	4162	6158	SO:0001583	missense	257160						zinc ion binding	g.chr11:117153860G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1980G>A	11.37:g.117153860G>A	ENSP00000431643:p.Met660Ile					RNF214_uc001pqu.2_Missense_Mutation_p.M660I|RNF214_uc010rxf.1_Missense_Mutation_p.M505I	p.M660I	NM_207343	NP_997226	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	14	2025	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	660			RING-type; atypical.		B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1980G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577114	0.13686	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.67345	-0.26;-0.26;1.11;-0.26	5.85	5.85	0.93711	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.038319	0.85682	D	0.000000	T	0.44498	0.1296	N	0.05487	-0.04	0.48762	D	0.999703	B;B	0.19200	0.034;0.034	B;B	0.30105	0.084;0.111	T	0.40608	-0.9554	10	0.02654	T	1	-7.036	12.4694	0.55779	0.0756:0.0:0.9244:0.0	.	505;660	B4DTD1;Q8ND24	.;RN214_HUMAN	I	505;660;470;660;212	ENSP00000435361:M505I;ENSP00000431643:M660I;ENSP00000432903:M470I;ENSP00000300650:M660I	ENSP00000300650:M660I	M	+	3	0	RNF214	116659070	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.594000	0.67557	2.771000	0.95319	0.561000	0.74099	ATG		0.488	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		20	52	0	0	0	0.00278	0	20	52				
DSCAML1	57453	broad.mit.edu	37	11	117335788	117335788	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117335788C>T	ENST00000321322.6	-	17	3316	c.3315G>A	c.(3313-3315)acG>acA	p.T1105T	DSCAML1_ENST00000527706.1_Silent_p.T835T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1045	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGCTGTCCCCCGTGGCCTTCA	0.612																																							uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3313-3315)ACG>ACA		Down syndrome cell adhesion molecule like 1							161.0	124.0	136.0					11																	117335788		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335788C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3315G>A	11.37:g.117335788C>T							p.T1105T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3317	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1045			Extracellular (Potential).|Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.3315G>A	CCDS8384.1																																																																																				0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		87	63	0	0	0	0.00361	0	87	63				
DSCAML1	57453	broad.mit.edu	37	11	117667871	117667871	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117667871C>G	ENST00000321322.6	-	1	105	c.104G>C	c.(103-105)cGc>cCc	p.R35P	DSCAML1_ENST00000527706.1_5'Flank	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGCTCAGCGCGCTCCCAGCC	0.721																																							uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(103-105)CGC>CCC		Down syndrome cell adhesion molecule like 1							22.0	21.0	21.0					11																	117667871		2192	4281	6473	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117667871C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.104G>C	11.37:g.117667871C>G	ENSP00000315465:p.Arg35Pro					DSCAML1_uc001pri.1_Intron	p.R35P	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	1	106	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Error:Variant_position_missing_in_Q8TD84_after_alignment					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.104G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751456	0.69533	.	.	ENSG00000177103	ENST00000321322	T	0.60920	0.15	4.59	4.59	0.56863	.	.	.	.	.	T	0.65512	0.2698	.	.	.	0.39962	D	0.974677	.	.	.	.	.	.	T	0.66384	-0.5937	5	.	.	.	.	14.4867	0.67622	0.0:1.0:0.0:0.0	.	.	.	.	P	35	ENSP00000315465:R35P	.	R	-	2	0	DSCAML1	117173081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.131000	0.31406	2.252000	0.74401	0.462000	0.41574	CGC		0.721	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	20	0	0	0	0.001168	0	6	20				
FXYD6	53826	broad.mit.edu	37	11	117710519	117710519	+	Nonstop_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:117710519A>G	ENST00000526014.1	-	7	881	c.286T>C	c.(286-288)Tga>Cga	p.*96R	FXYD6_ENST00000530956.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000584394.1_Missense_Mutation_p.L79P|FXYD6_ENST00000260282.4_Nonstop_Mutation_p.*96R|FXYD6_ENST00000539526.1_Nonstop_Mutation_p.*96R|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000524656.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000527717.1_Nonstop_Mutation_p.*96R|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000529335.2_Silent_p.T86T|FXYD6_ENST00000527429.1_3'UTR|FXYD6_ENST00000540359.1_Nonstop_Mutation_p.*96R|FXYD6-FXYD2_ENST00000532984.1_Silent_p.T83T|RP11-728F11.4_ENST00000525260.1_RNA|RP11-728F11.4_ENST00000534150.1_RNA	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6	0					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		GCTGCACTTCAGTTCTCTGCT	0.577																																							uc001pro.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(286-288)TGA>CGA		FXYD domain-containing ion transport regulator 6							200.0	171.0	180.0					11																	117710519		2201	4296	6497	SO:0001578	stop_lost	53826					integral to membrane|plasma membrane	ion channel activity	g.chr11:117710519A>G	BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"""phosphohippolin"""	606683	"""FXYD domain-containing ion transport regulator 6"""			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.286T>C	11.37:g.117710519A>G	ENSP00000433312:p.*96Glyext*16					FXYD6_uc001prn.1_Intron|FXYD6_uc001prp.1_Nonstop_Mutation_p.*96R|FXYD6_uc001prq.1_Nonstop_Mutation_p.*96R|FXYD6_uc001prr.1_Nonstop_Mutation_p.*96R|FXYD6_uc009yzq.1_3'UTR	p.*96R	NM_022003	NP_071286	Q9H0Q3	FXYD6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)	7	352	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)	96					A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Nonstop_Mutation	SNP	ENST00000526014.1	37	c.286T>C	CCDS8387.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302893	0.60195	.	.	ENSG00000137726	ENST00000540359;ENST00000539526;ENST00000260282;ENST00000527717;ENST00000526014;ENST00000524656	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6551	0.51313	1.0:0.0:0.0:0.0	.	.	.	.	R	96	.	.	X	-	1	0	FXYD6	117215729	1.000000	0.71417	0.995000	0.50966	0.722000	0.41435	4.817000	0.62650	2.074000	0.62210	0.459000	0.35465	TGA		0.577	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392307.1	NM_022003		69	67	0	0	0	0.00361	0	69	67				
AMICA1	120425	broad.mit.edu	37	11	118081211	118081211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:118081211C>A	ENST00000356289.5	-	4	588	c.415G>T	c.(415-417)Gag>Tag	p.E139*	AMICA1_ENST00000292067.7_Nonsense_Mutation_p.E129*|AMICA1_ENST00000526620.1_Nonsense_Mutation_p.E100*|AMICA1_ENST00000533261.1_Nonsense_Mutation_p.E139*	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	139	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTTTGGGCTCCTCTGGAAGC	0.507																																							uc001psk.2		NA																	0				ovary(1)	1						c.(415-417)GAG>TAG		adhesion molecule, interacts with CXADR antigen							85.0	68.0	74.0					11																	118081211		2200	4296	6496	SO:0001587	stop_gained	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118081211C>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.415G>T	11.37:g.118081211C>A	ENSP00000348635:p.Glu139*					AMICA1_uc001psh.2_Nonsense_Mutation_p.E100*|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Nonsense_Mutation_p.E129*|AMICA1_uc001psj.2_Nonsense_Mutation_p.E139*|AMICA1_uc010rxw.1_Nonsense_Mutation_p.E100*|AMICA1_uc010rxx.1_Nonsense_Mutation_p.E139*|AMICA1_uc001psl.1_Nonsense_Mutation_p.E95*	p.E139*	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	4	589	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	139			Ig-like V-type 2.|Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Nonsense_Mutation	SNP	ENST00000356289.5	37	c.415G>T	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	38	6.671349	0.97751	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	.	.	.	5.14	4.16	0.48862	.	0.000000	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-25.8871	7.7262	0.28761	0.0:0.886:0.0:0.114	.	.	.	.	X	139;129;139;100;100;100;139	.	ENSP00000292067:E129X	E	-	1	0	AMICA1	117586421	0.882000	0.30256	1.000000	0.80357	0.330000	0.28571	1.353000	0.34045	2.669000	0.90835	0.655000	0.94253	GAG		0.507	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		27	71	1	0	7.68411e-24	0.008361	1.20041e-23	27	71				
TRIM29	23650	broad.mit.edu	37	11	120008389	120008389	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:120008389T>A	ENST00000341846.5	-	1	772	c.351A>T	c.(349-351)ccA>ccT	p.P117P		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	117					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGGTAACGGGTGGCTTCTTGG	0.617																																							uc001pwz.2		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(349-351)CCA>CCT		tripartite motif protein TRIM29							137.0	151.0	146.0					11																	120008389		2203	4300	6503	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008389T>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.351A>T	11.37:g.120008389T>A						TRIM29_uc001pxa.2_RNA	p.P117P	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	475	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	117					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.351A>T	CCDS8428.1																																																																																				0.617	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		153	166	0	0	0	0.00361	0	153	166				
GRIK4	2900	broad.mit.edu	37	11	120827558	120827558	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:120827558G>T	ENST00000527524.2	+	16	2057	c.1770G>T	c.(1768-1770)caG>caT	p.Q590H	GRIK4_ENST00000438375.2_Missense_Mutation_p.Q590H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	590					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TGGTGAACCAGTACTCCCTGG	0.622																																							uc001pxn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1768-1770)CAG>CAT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						70.0	60.0	63.0					11																	120827558		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120827558G>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1770G>T	11.37:g.120827558G>T	ENSP00000435648:p.Gln590His					GRIK4_uc009zav.1_Missense_Mutation_p.Q590H|GRIK4_uc009zaw.1_Missense_Mutation_p.Q590H|GRIK4_uc009zax.1_Missense_Mutation_p.Q590H	p.Q590H	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	16	2057	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	590			Cytoplasmic (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1770G>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464742	0.84425	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.54071	0.59;0.59	4.96	4.96	0.65561	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75068	-0.3448	10	0.72032	D	0.01	.	18.1756	0.89760	0.0:0.0:1.0:0.0	.	590;590	A6H8K8;Q16099	.;GRIK4_HUMAN	H	590	ENSP00000435648:Q590H;ENSP00000404063:Q590H	ENSP00000404063:Q590H	Q	+	3	2	GRIK4	120332768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.001000	0.57046	2.458000	0.83093	0.655000	0.94253	CAG		0.622	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		63	59	1	0	2.82337e-50	0.00361	5.14646e-50	63	59				
GRIK4	2900	broad.mit.edu	37	11	120833380	120833380	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:120833380C>A	ENST00000527524.2	+	18	2543	c.2256C>A	c.(2254-2256)ggC>ggA	p.G752G	GRIK4_ENST00000438375.2_Silent_p.G752G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	752					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ATGGGATTGGCATGCCAGTCG	0.537																																							uc001pxn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2254-2256)GGC>GGA		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						78.0	81.0	80.0					11																	120833380		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120833380C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2256C>A	11.37:g.120833380C>A						GRIK4_uc009zav.1_Silent_p.G752G|GRIK4_uc009zaw.1_Silent_p.G752G|GRIK4_uc009zax.1_Silent_p.G752G	p.G752G	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	18	2543	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	752			Extracellular (Potential).		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.2256C>A	CCDS8433.1																																																																																				0.537	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		46	50	1	0	0.000147903	0.00361	0.000157775	46	50				
SC5D	6309	broad.mit.edu	37	11	121177947	121177947	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:121177947A>G	ENST00000392789.2	+	5	863	c.626A>G	c.(625-627)cAt>cGt	p.H209R	SC5D_ENST00000264027.4_Missense_Mutation_p.H209R|SC5D_ENST00000534230.1_Missense_Mutation_p.H209R|SC5D_ENST00000528991.1_3'UTR	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	209					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATTTCCATTCATGACGGTGAT	0.363																																							uc001pxu.2		NA																	0				ovary(1)	1						c.(625-627)CAT>CGT		sterol-C5-desaturase							188.0	187.0	188.0					11																	121177947		2203	4299	6502	SO:0001583	missense	6309				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity	g.chr11:121177947A>G		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.626A>G	11.37:g.121177947A>G	ENSP00000376539:p.His209Arg					SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Missense_Mutation_p.H209R	p.H209R	NM_006918	NP_008849	O75845	SC5D_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	5	774	+		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	209					O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.626A>G	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596464	0.86953	.	.	ENSG00000109929	ENST00000264027;ENST00000534230;ENST00000392789	D;D;D	0.95518	-3.73;-3.73;-3.73	6.02	6.02	0.97574	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	H	0.97852	4.09	0.58432	D	0.999998	D	0.67145	0.996	D	0.80764	0.994	D	0.99628	1.0985	10	0.72032	D	0.01	-10.0124	15.5272	0.75919	1.0:0.0:0.0:0.0	.	209	O75845	SC5D_HUMAN	R	209	ENSP00000264027:H209R;ENSP00000432550:H209R;ENSP00000376539:H209R	ENSP00000264027:H209R	H	+	2	0	SC5DL	120683157	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.300000	0.96151	2.311000	0.77944	0.533000	0.62120	CAT		0.363	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		86	117	0	0	0	0.00361	0	86	117				
SORL1	6653	broad.mit.edu	37	11	121476192	121476192	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:121476192T>A	ENST00000260197.7	+	35	4989	c.4860T>A	c.(4858-4860)gaT>gaA	p.D1620E	SORL1_ENST00000525532.1_Missense_Mutation_p.D564E|SORL1_ENST00000534286.1_Missense_Mutation_p.D530E|SORL1_ENST00000532694.1_Missense_Mutation_p.D466E|SORL1_ENST00000527934.1_Missense_Mutation_p.D235E	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1620	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGAAACCAGATACCACGTATC	0.443																																							uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4858-4860)GAT>GAA		sortilin-related receptor containing LDLR class							184.0	179.0	181.0					11																	121476192		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121476192T>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4860T>A	11.37:g.121476192T>A	ENSP00000260197:p.Asp1620Glu					SORL1_uc010rzp.1_Missense_Mutation_p.D466E|SORL1_uc010rzq.1_Missense_Mutation_p.D235E	p.D1620E	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	35	4940	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1620			Extracellular (Potential).|Fibronectin type-III 1.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4860T>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398882	0.62177	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.7	-2.81	0.05805	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	L	0.29908	0.895	0.40530	D	0.98092	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49707	-0.8911	10	0.17832	T	0.49	.	11.4445	0.50114	0.0:0.4984:0.0:0.5016	.	235;1620	E9PKB0;Q92673	.;SORL_HUMAN	E	1620;564;466;530;235	ENSP00000260197:D1620E;ENSP00000434634:D564E;ENSP00000432131:D466E;ENSP00000436447:D530E;ENSP00000435405:D235E	ENSP00000260197:D1620E	D	+	3	2	SORL1	120981402	0.352000	0.24895	0.838000	0.33150	0.995000	0.86356	-0.220000	0.09215	-0.932000	0.03742	-0.242000	0.12053	GAT		0.443	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		50	166	0	0	0	0.00361	0	50	166				
OR8D4	338662	broad.mit.edu	37	11	123777827	123777827	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:123777827C>T	ENST00000321355.2	+	1	719	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CGCATCCACTCTAAAAAGGGC	0.433																																							uc010saa.1		NA																	0				skin(1)	1						c.(688-690)TCT>TTT		olfactory receptor, family 8, subfamily D,							103.0	102.0	102.0					11																	123777827		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777827C>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.689C>T	11.37:g.123777827C>T	ENSP00000325381:p.Ser230Phe						p.S230F	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	689	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	230			Cytoplasmic (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.689C>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663760	0.67700	.	.	ENSG00000181518	ENST00000321355	T	0.00340	8.04	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000263	T	0.00936	0.0031	H	0.94925	3.6	0.40954	D	0.98456	P	0.41848	0.763	P	0.48571	0.582	T	0.51934	-0.8642	10	0.87932	D	0	.	18.8542	0.92244	0.0:1.0:0.0:0.0	.	230	Q8NGM9	OR8D4_HUMAN	F	230	ENSP00000325381:S230F	ENSP00000325381:S230F	S	+	2	0	OR8D4	123283037	0.962000	0.33011	0.035000	0.18076	0.766000	0.43426	5.138000	0.64795	2.744000	0.94065	0.655000	0.94253	TCT		0.433	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		67	53	0	0	0	0.00361	0	67	53				
OR8D1	283159	broad.mit.edu	37	11	124180357	124180357	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124180357A>T	ENST00000357821.2	-	1	376	c.306T>A	c.(304-306)ttT>ttA	p.F102L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	102			F -> V (in dbSNP:rs2510433). {ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCACAAAGAAAAAGAGCTGGA	0.448																																							uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(304-306)TTT>TTA		olfactory receptor, family 8, subfamily D,							68.0	66.0	67.0					11																	124180357		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180357A>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.306T>A	11.37:g.124180357A>T	ENSP00000350474:p.Phe102Leu						p.F102L	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	306	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	102			Helical; Name=3; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.306T>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	a	11.55	1.671338	0.29693	.	.	ENSG00000196341	ENST00000357821	T	0.00397	7.57	4.29	-0.81	0.10860	GPCR, rhodopsin-like superfamily (1);	0.217249	0.23146	U	0.051418	T	0.00496	0.0016	M	0.64997	1.995	0.28644	N	0.907007	P	0.50943	0.94	P	0.54759	0.76	T	0.43782	-0.9370	10	0.62326	D	0.03	.	9.2192	0.37366	0.5864:0.0:0.4136:0.0	.	102	Q8WZ84	OR8D1_HUMAN	L	102	ENSP00000350474:F102L	ENSP00000350474:F102L	F	-	3	2	OR8D1	123685567	0.003000	0.15002	0.996000	0.52242	0.112000	0.19704	0.758000	0.26447	-0.046000	0.13446	0.416000	0.27883	TTT		0.448	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		15	24	0	0	0	0.003163	0	15	24				
OR8D2	283160	broad.mit.edu	37	11	124189589	124189589	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124189589A>G	ENST00000357438.2	-	1	595	c.505T>C	c.(505-507)Tgt>Cgt	p.C169R		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGAGACCTACAGAATGACAAC	0.453																																							uc010sah.1		NA																	0				breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(505-507)TGT>CGT		olfactory receptor, family 8, subfamily D,							109.0	100.0	103.0					11																	124189589		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189589A>G	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.505T>C	11.37:g.124189589A>G	ENSP00000350022:p.Cys169Arg						p.C169R	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	505	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	169			Extracellular (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.505T>C	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	a	18.72	3.684917	0.68157	.	.	ENSG00000197263	ENST00000357438	T	0.00237	8.47	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000073	T	0.00695	0.0023	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65207	-0.6224	10	0.87932	D	0	.	12.9766	0.58540	1.0:0.0:0.0:0.0	.	169	Q9GZM6	OR8D2_HUMAN	R	169	ENSP00000350022:C169R	ENSP00000350022:C169R	C	-	1	0	OR8D2	123694799	1.000000	0.71417	0.589000	0.28718	0.438000	0.31896	6.220000	0.72237	1.885000	0.54596	0.432000	0.28606	TGT		0.453	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		29	68	0	0	0	0.005443	0	29	68				
OR8B12	219858	broad.mit.edu	37	11	124413487	124413487	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124413487G>T	ENST00000306842.2	-	1	88	c.64C>A	c.(64-66)Ctg>Atg	p.L22M		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGGATCCGCAGTCCCGGCTGG	0.542																																							uc010sam.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(64-66)CTG>ATG		olfactory receptor, family 8, subfamily B,							48.0	52.0	51.0					11																	124413487		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413487G>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.64C>A	11.37:g.124413487G>T	ENSP00000307159:p.Leu22Met						p.L22M	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	64	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	22			Extracellular (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.64C>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147660	0.21288	.	.	ENSG00000170953	ENST00000306842	T	0.03330	3.97	3.89	2.0	0.26442	.	0.000000	0.49305	D	0.000142	T	0.12305	0.0299	M	0.72894	2.215	0.09310	N	1	D	0.63046	0.992	D	0.65233	0.933	T	0.01904	-1.1250	10	0.72032	D	0.01	.	8.4727	0.32995	0.0842:0.0:0.7617:0.1541	.	22	Q8NGG6	OR8BC_HUMAN	M	22	ENSP00000307159:L22M	ENSP00000307159:L22M	L	-	1	2	OR8B12	123918697	0.001000	0.12720	0.021000	0.16686	0.172000	0.22775	-0.052000	0.11865	0.599000	0.29845	0.650000	0.86243	CTG		0.542	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			43	38	1	0	1.15183e-24	0.009718	1.81848e-24	43	38				
ROBO3	64221	broad.mit.edu	37	11	124742393	124742393	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:124742393G>A	ENST00000397801.1	+	8	1467	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	ROBO3_ENST00000538940.1_Silent_p.Q403Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	425	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACGTGTGCCAGGCTGTCAGTG	0.592																																							uc001qbc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1273-1275)CAG>CAA		roundabout, axon guidance receptor, homolog 3							58.0	60.0	60.0					11																	124742393		2125	4246	6371	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742393G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1275G>A	11.37:g.124742393G>A							p.Q425Q	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	8	1467	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	425			Ig-like C2-type 4.|Extracellular (Potential).			Silent	SNP	ENST00000397801.1	37	c.1275G>A	CCDS44755.1																																																																																				0.592	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		21	28	0	0	0	0.010504	0	21	28				
ACRV1	56	broad.mit.edu	37	11	125547943	125547943	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:125547943G>T	ENST00000533904.1	-	2	644	c.302C>A	c.(301-303)aCt>aAt	p.T101N	ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.T46N|ACRV1_ENST00000315608.3_Missense_Mutation_p.T101N|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000530048.1_Missense_Mutation_p.T46N			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	101	4 X 4 AA repeats of S-G-E-H.				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCATGTTCAGTCGCAGCGGG	0.542																																							uc001qcs.2		NA																	0					0						c.(301-303)ACT>AAT		acrosomal vesicle protein 1 isoform a precursor							111.0	96.0	101.0					11																	125547943		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547943G>T	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.302C>A	11.37:g.125547943G>T	ENSP00000432816:p.Thr101Asn					ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.T46N|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.T101N	p.T101N	NM_001612	NP_001603	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	569	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	101			4 X 4 AA repeats of S-G-E-H.		Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.302C>A	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	G	5.434	0.265136	0.10294	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000348856;ENST00000315608;ENST00000530048	T;T;T;T;T;T	0.18016	2.27;2.27;2.24;2.26;2.27;2.24	3.05	-2.06	0.07298	.	1.960650	0.02313	N	0.072257	T	0.07954	0.0199	N	0.03608	-0.345	0.23528	N	0.997489	B;B;P	0.35033	0.372;0.257;0.481	B;B;B	0.29862	0.053;0.053;0.108	T	0.25082	-1.0142	10	0.40728	T	0.16	4.0E-4	9.2936	0.37802	0.0:0.2628:0.6335:0.1037	.	101;101;46	P26436;P26436-2;P26436-3	ASPX_HUMAN;.;.	N	101;101;46;46;101;46	ENSP00000432816:T101N;ENSP00000407846:T101N;ENSP00000257382:T46N;ENSP00000257385:T46N;ENSP00000317684:T101N;ENSP00000433720:T46N	ENSP00000257382:T46N	T	-	2	0	ACRV1	125053153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.022000	0.13511	-0.601000	0.05783	-0.165000	0.13383	ACT		0.542	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		38	120	1	0	9.8876e-21	0.004878	1.47893e-20	38	120				
ARHGAP32	9743	broad.mit.edu	37	11	128839000	128839000	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:128839000C>A	ENST00000310343.9	-	22	6065	c.6066G>T	c.(6064-6066)caG>caT	p.Q2022H	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2022	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGTTATCATACTGGGACACAA	0.577																																							uc009zcp.2		NA																	0				lung(3)|ovary(2)	5						c.(6064-6066)CAG>CAT		Rho GTPase-activating protein isoform 1							100.0	83.0	89.0					11																	128839000		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839000C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6066G>T	11.37:g.128839000C>A	ENSP00000310561:p.Gln2022His					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.Q981H|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q1673H	p.Q2022H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	6066	-			2022			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6066G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506184	0.44558	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.21543	2.0;2.0;2.0	5.58	4.68	0.58851	.	0.061145	0.64402	D	0.000003	T	0.18800	0.0451	L	0.52364	1.645	0.36008	D	0.837861	B	0.32071	0.355	B	0.28638	0.092	T	0.16305	-1.0407	10	0.35671	T	0.21	.	10.6187	0.45467	0.0:0.8538:0.0:0.1462	.	2022	A7KAX9	RHG32_HUMAN	H	2022;1673;1673	ENSP00000310561:Q2022H;ENSP00000376425:Q1673H;ENSP00000432862:Q1673H	ENSP00000310561:Q2022H	Q	-	3	2	ARHGAP32	128344210	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.559000	0.45888	1.383000	0.46405	0.650000	0.86243	CAG		0.577	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		31	57	1	0	1.08312e-15	0.009535	1.4731e-15	31	57				
APLP2	334	broad.mit.edu	37	11	130011868	130011868	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:130011868G>T	ENST00000263574.5	+	17	2161	c.2089G>T	c.(2089-2091)Ggc>Tgc	p.G697C	APLP2_ENST00000345598.5_Missense_Mutation_p.G456C|APLP2_ENST00000528499.1_Missense_Mutation_p.G629C|APLP2_ENST00000543137.1_Missense_Mutation_p.G592C|APLP2_ENST00000278756.7_Missense_Mutation_p.G695C|APLP2_ENST00000338167.5_Missense_Mutation_p.G685C|APLP2_ENST00000539648.1_Missense_Mutation_p.G485C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	697					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGCTCTCATTGGCCTGCTGGT	0.562																																							uc010sby.1		NA																	0				ovary(3)	3						c.(2089-2091)GGC>TGC		amyloid beta (A4) precursor-like protein 2							87.0	72.0	77.0					11																	130011868		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130011868G>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.2089G>T	11.37:g.130011868G>T	ENSP00000263574:p.Gly697Cys					APLP2_uc001qfp.2_Missense_Mutation_p.G685C|APLP2_uc001qfq.2_Missense_Mutation_p.G629C|APLP2_uc010sbz.1_Missense_Mutation_p.G485C|APLP2_uc001qfr.2_Missense_Mutation_p.G451C|APLP2_uc001qfs.2_Missense_Mutation_p.G456C|APLP2_uc001qfv.2_Missense_Mutation_p.G588C|APLP2_uc009zcv.2_Missense_Mutation_p.G45C	p.G697C	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	17	2246	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	697			Helical; (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.2089G>T	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976641	0.92982	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.95447	-3.67;-3.49;-1.99;-3.71;-2.14;-2.16;-2.15	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97297	0.9928	9	.	.	.	-29.7374	18.9446	0.92616	0.0:0.0:1.0:0.0	.	485;697;641;456;623;629;685	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	C	629;485;697;456;685;695;592	ENSP00000435914:G629C;ENSP00000443728:G485C;ENSP00000263574:G697C;ENSP00000263575:G456C;ENSP00000345444:G685C;ENSP00000278756:G695C;ENSP00000444122:G592C	.	G	+	1	0	APLP2	129517078	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.402000	0.97298	2.708000	0.92522	0.650000	0.86243	GGC		0.562	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		28	46	1	0	4.87955e-14	0.005443	6.38502e-14	28	46				
GLB1L3	112937	broad.mit.edu	37	11	134182308	134182308	+	Silent	SNP	C	C	A	rs75421740		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:134182308C>A	ENST00000431683.2	+	14	1353	c.1353C>A	c.(1351-1353)tcC>tcA	p.S451S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	451					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCGGCCAGTCCTACGGGCTTG	0.592																																							uc009zdf.2		NA																	0				pancreas(1)	1						c.(1351-1353)TCC>TCA		galactosidase, beta 1 like 3							56.0	61.0	59.0					11																	134182308		2057	4206	6263	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134182308C>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1353C>A	11.37:g.134182308C>A						GLB1L3_uc001qho.3_RNA	p.S451S	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	14	1713	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	451					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1353C>A	CCDS44780.1																																																																																				0.592	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		34	40	1	0	6.00712e-18	0.002445	8.55506e-18	34	40				
KDM5A	5927	broad.mit.edu	37	12	419077	419077	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:419077C>T	ENST00000399788.2	-	22	3632	c.3270G>A	c.(3268-3270)agG>agA	p.R1090R	KDM5A_ENST00000382815.4_Silent_p.R1090R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1090					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTACTTTTTTCCTCCTATTTT	0.403			T	NUP98	AML																																		uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(3268-3270)AGG>AGA		retinoblastoma binding protein 2 isoform 1							77.0	73.0	74.0					12																	419077		1803	4068	5871	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:419077C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3270G>A	12.37:g.419077C>T						KDM5A_uc001qie.1_Silent_p.R1090R|KDM5A_uc010sdn.1_Silent_p.R1049R	p.R1090R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			22	3633	-			1090					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.3270G>A	CCDS41736.1																																																																																				0.403	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		37	7	0	0	0	0.004878	0	37	7				
ERC1	23085	broad.mit.edu	37	12	1291232	1291232	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:1291232G>T	ENST00000397203.2	+	10	2422		c.e10+1		ERC1_ENST00000589028.1_Splice_Site|ERC1_ENST00000543086.3_Splice_Site|ERC1_ENST00000360905.4_Splice_Site|ERC1_ENST00000546231.2_Splice_Site|ERC1_ENST00000355446.5_Splice_Site|ERC1_ENST00000536573.2_Splice_Site			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1						I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGAAAGAGGTTAAGCTCCC	0.358																																							uc001qjb.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.e10+1		RAB6-interacting protein 2 isoform epsilon							53.0	55.0	54.0					12																	1291232		2203	4300	6503	SO:0001630	splice_region_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1291232G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2016+1G>T	12.37:g.1291232G>T						ERC1_uc001qiz.2_Splice_Site|ERC1_uc001qjc.2_Splice_Site_p.E644_splice|ERC1_uc001qja.2_Splice_Site|ERC1_uc001qjd.2_Splice_Site|ERC1_uc001qjf.2_Splice_Site_p.E672_splice|ERC1_uc010sdv.1_Splice_Site_p.E420_splice|ERC1_uc009zdp.2_Splice_Site_p.E312_splice	p.E672_splice	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		10	2257	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)							A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Splice_Site	SNP	ENST00000397203.2	37	c.2016_splice	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065145	0.76187	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3897	0.90478	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERC1	1161493	1.000000	0.71417	0.999000	0.59377	0.780000	0.44128	9.869000	0.99810	2.350000	0.79820	0.655000	0.94253	.		0.358	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	Intron	12	3	1	0	2.80697e-09	0.000978	3.35311e-09	12	3				
KCNA5	3741	broad.mit.edu	37	12	5153658	5153658	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:5153658G>T	ENST00000252321.3	+	1	574	c.345G>T	c.(343-345)gcG>gcT	p.A115A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	115					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGGGCACGGCGTCCCTGCACC	0.697																																							uc001qni.2		NA																	0				ovary(2)|breast(2)	4						c.(343-345)GCG>GCT		potassium voltage-gated channel, shaker-related							27.0	27.0	27.0					12																	5153658		2202	4299	6501	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153658G>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.345G>T	12.37:g.5153658G>T							p.A115A	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	574	+			115					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.345G>T	CCDS8536.1																																																																																				0.697	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		12	5	1	0	5.16669e-11	0.000978	6.41359e-11	12	5				
VWF	7450	broad.mit.edu	37	12	6121286	6121286	+	Silent	SNP	C	C	T	rs144221902		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:6121286C>T	ENST00000261405.5	-	33	5885	c.5631G>A	c.(5629-5631)agG>agA	p.R1877R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1877					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCATGCAAATCCTAACAAATC	0.428																																							uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(5629-5631)AGG>AGA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)	C		0,4406		0,0,2203	201.0	205.0	204.0		5631	-5.4	0.0	12	dbSNP_134	204	1,8599		0,1,4299	no	coding-synonymous	VWF	NM_000552.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1877/2814	6121286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6121286C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5631G>A	12.37:g.6121286C>T						VWF_uc010set.1_Intron	p.R1877R	NM_000552	NP_000543	P04275	VWF_HUMAN			33	5881	-			1877					Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5631G>A	CCDS8539.1																																																																																				0.428	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		103	28	0	0	0	0.00361	0	103	28				
GPR162	27239	broad.mit.edu	37	12	6936231	6936231	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:6936231T>G	ENST00000311268.3	+	5	2416	c.1629T>G	c.(1627-1629)ccT>ccG	p.P543P	LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Silent_p.P239P|GPR162_ENST00000428545.2_Silent_p.P259P|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	543						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TTGGGTCCCCTGAGAGCAGAG	0.652																																							uc001qqw.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1627-1629)CCT>CCG		G protein-coupled receptor 162 isoform 2							67.0	79.0	75.0					12																	6936231		2202	4296	6498	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6936231T>G	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1629T>G	12.37:g.6936231T>G						LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Silent_p.P259P|GPR162_uc009zfd.1_Silent_p.P239P|GPR162_uc001qqy.1_Intron	p.P543P	NM_019858	NP_062832	Q16538	GP162_HUMAN			5	2164	+			543			Cytoplasmic (Potential).		Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.1629T>G	CCDS8563.1																																																																																				0.652	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		71	16	0	0	0	0.00361	0	71	16				
USP5	8078	broad.mit.edu	37	12	6965198	6965198	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:6965198G>T	ENST00000229268.8	+	4	374	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	USP5_ENST00000389231.5_Missense_Mutation_p.D108Y	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	108					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGGCGGATTTGACCTTAGCGA	0.522																																							uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(322-324)GAC>TAC		ubiquitin specific peptidase 5 isoform 1							183.0	182.0	182.0					12																	6965198		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6965198G>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.322G>T	12.37:g.6965198G>T	ENSP00000229268:p.Asp108Tyr					USP5_uc001qrh.3_Missense_Mutation_p.D108Y	p.D108Y	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			4	381	+			108					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.322G>T	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065773	0.55539	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.25250	1.81;1.81	5.17	3.37	0.38596	.	0.045910	0.85682	D	0.000000	T	0.49762	0.1576	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.959	T	0.53732	-0.8397	10	0.87932	D	0	-9.5936	11.4517	0.50156	0.1441:0.0:0.8559:0.0	.	108;108	P45974;P45974-2	UBP5_HUMAN;.	Y	108	ENSP00000229268:D108Y;ENSP00000373883:D108Y	ENSP00000229268:D108Y	D	+	1	0	USP5	6835459	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.075000	0.64407	0.775000	0.33450	0.655000	0.94253	GAC		0.522	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			118	29	1	0	1.14919e-56	0.00361	2.11671e-56	118	29				
GUCY2C	2984	broad.mit.edu	37	12	14809552	14809552	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:14809552C>G	ENST00000261170.3	-	12	1501		c.e12-1			NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)						intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTATATTTTCTGTGAAAGGA	0.373																																							uc001rcd.2		NA																	0				ovary(4)|skin(2)	6						c.e12-1		guanylate cyclase 2C precursor							90.0	89.0	89.0					12																	14809552		2203	4300	6503	SO:0001630	splice_region_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14809552C>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1365-1G>C	12.37:g.14809552C>G							p.R455_splice	NM_004963	NP_004954	P25092	GUC2C_HUMAN			12	1502	-								B2RMY6	Splice_Site	SNP	ENST00000261170.3	37	c.1365_splice	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068949	0.55539	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9734	0.92724	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GUCY2C	14700819	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	5.940000	0.70187	2.776000	0.95493	0.655000	0.94253	.		0.373	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		Intron	35	6	0	0	0	0.002836	0	35	6				
RERG	85004	broad.mit.edu	37	12	15370383	15370383	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:15370383C>A	ENST00000256953.2	-	2	377	c.41G>T	c.(40-42)aGa>aTa	p.R14I	RERG_ENST00000536465.1_Missense_Mutation_p.R14I|RERG_ENST00000537647.1_Missense_Mutation_p.R14I|RERG_ENST00000546331.1_Missense_Mutation_p.R14I|RERG_ENST00000538313.1_Missense_Mutation_p.R14I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	14					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACGCCTGCTCTCCCAAATAT	0.418																																							uc001rcs.2		NA																	0				lung(1)	1						c.(40-42)AGA>ATA		RAS-like, estrogen-regulated, growth inhibitor							290.0	241.0	257.0					12																	15370383		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15370383C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.41G>T	12.37:g.15370383C>A	ENSP00000256953:p.Arg14Ile					RERG_uc001rct.2_Missense_Mutation_p.R14I|RERG_uc010shu.1_Missense_Mutation_p.R14I	p.R14I	NM_032918	NP_116307	Q96A58	RERG_HUMAN			1	181	-			14			GTP.		B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.41G>T	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763366	0.69763	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000537647;ENST00000393736	T;T;T;T;T;T	0.80304	-1.06;-1.06;-1.06;-1.36;-1.06;-1.06	4.92	4.92	0.64577	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	N	0.17082	0.46	0.80722	D	1	B;B	0.26975	0.001;0.165	B;B	0.30029	0.007;0.11	T	0.69993	-0.4994	10	0.62326	D	0.03	.	13.496	0.61426	0.0:1.0:0.0:0.0	.	14;14	B4DI02;Q96A58	.;RERG_HUMAN	I	14	ENSP00000256953:R14I;ENSP00000441505:R14I;ENSP00000438280:R14I;ENSP00000444485:R14I;ENSP00000441860:R14I;ENSP00000440887:R14I	ENSP00000256953:R14I	R	-	2	0	RERG	15261650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.379000	0.52440	2.550000	0.86006	0.655000	0.94253	AGA		0.418	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		60	16	1	0	2.165e-29	0.00361	3.58179e-29	60	16				
EPS8	2059	broad.mit.edu	37	12	15777257	15777257	+	Missense_Mutation	SNP	T	T	C	rs368811171		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:15777257T>C	ENST00000281172.5	-	19	2565	c.2129A>G	c.(2128-2130)cAt>cGt	p.H710R	EPS8_ENST00000543523.1_Missense_Mutation_p.H710R|EPS8_ENST00000540613.1_Missense_Mutation_p.H450R|EPS8_ENST00000542903.1_Missense_Mutation_p.H450R|EPS8_ENST00000543612.1_Missense_Mutation_p.H710R	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	710	Effector region. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCGTGGCACATGGAATTTCTT	0.493																																							uc009zif.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2128-2130)CAT>CGT		epidermal growth factor receptor pathway		T	ARG/HIS	0,4406		0,0,2203	217.0	184.0	195.0		2129	4.0	0.9	12		195	2,8598	2.2+/-6.3	0,2,4298	no	missense	EPS8	NM_004447.5	29	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	710/823	15777257	2,13004	2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15777257T>C	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2129A>G	12.37:g.15777257T>C	ENSP00000281172:p.His710Arg					EPS8_uc001rdb.2_Missense_Mutation_p.H710R|EPS8_uc009zig.2_Missense_Mutation_p.H450R|EPS8_uc010shv.1_Missense_Mutation_p.H450R	p.H710R	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	19	2223	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	710					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.2129A>G	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-2.012669	0.00422	0.0	2.33E-4	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903	T;T;T;T;T	0.05925	3.5;3.5;3.5;3.37;3.37	5.18	4.03	0.46877	.	0.307070	0.35207	N	0.003365	T	0.04227	0.0117	N	0.25286	0.73	0.32299	N	0.565294	B	0.15141	0.012	B	0.11329	0.006	T	0.24083	-1.0170	10	0.05436	T	0.98	-6.7285	12.3177	0.54966	0.0:0.0:0.1417:0.8583	.	710	Q12929	EPS8_HUMAN	R	710;710;710;450;450	ENSP00000441867:H710R;ENSP00000281172:H710R;ENSP00000442388:H710R;ENSP00000441888:H450R;ENSP00000437806:H450R	ENSP00000281172:H710R	H	-	2	0	EPS8	15668524	0.958000	0.32768	0.934000	0.37439	0.050000	0.14768	1.618000	0.36954	0.981000	0.38548	0.455000	0.32223	CAT		0.493	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			71	22	0	0	0	0.00361	0	71	22				
PDE3A	5139	broad.mit.edu	37	12	20769266	20769266	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:20769266G>T	ENST00000359062.3	+	4	1412	c.1372G>T	c.(1372-1374)Gta>Tta	p.V458L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	458					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCTGCACCAGTACGGAGAGA	0.547																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1372-1374)GTA>TTA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						130.0	114.0	119.0					12																	20769266		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769266G>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1372G>T	12.37:g.20769266G>T	ENSP00000351957:p.Val458Leu						p.V458L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1394	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	458					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1372G>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978768	0.34942	.	.	ENSG00000172572	ENST00000359062	T	0.49720	0.77	5.43	5.43	0.79202	.	0.107083	0.39475	N	0.001345	T	0.40862	0.1134	L	0.59436	1.845	0.49915	D	0.999831	P	0.39116	0.66	B	0.27887	0.084	T	0.38520	-0.9657	10	0.12430	T	0.62	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	458	Q14432	PDE3A_HUMAN	L	458	ENSP00000351957:V458L	ENSP00000351957:V458L	V	+	1	0	PDE3A	20660533	1.000000	0.71417	0.127000	0.21898	0.057000	0.15508	4.967000	0.63722	2.698000	0.92095	0.655000	0.94253	GTA		0.547	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			44	43	1	0	1.63429e-32	0.00361	2.77256e-32	44	43				
SLCO1B3	28234	broad.mit.edu	37	12	21051426	21051426	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:21051426G>A	ENST00000381545.3	+	14	1958	c.1739G>A	c.(1738-1740)aGa>aAa	p.R580K	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R580K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R580K|LST3_ENST00000540229.1_Missense_Mutation_p.R580K|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	580					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.R580K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATGGTTATAAGAACACTAGGT	0.259																																							uc001rek.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1738-1740)AGA>AAA		solute carrier organic anion transporter family,							75.0	72.0	73.0					12																	21051426		2201	4295	6496	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21051426G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1739G>A	12.37:g.21051426G>A	ENSP00000370956:p.Arg580Lys					SLCO1B3_uc001rel.2_Missense_Mutation_p.R580K|SLCO1B3_uc010sil.1_Missense_Mutation_p.R580K|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.R405K	p.R580K	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			13	1865	+	Esophageal squamous(101;0.149)		580			Helical; Name=11; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1739G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800092	0.31869	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.7	3.7	0.42460	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;D;D	0.91635	0.999;0.951;0.951	T	0.75360	-0.3345	10	0.59425	D	0.04	.	11.1515	0.48462	0.0:0.0:1.0:0.0	.	580;580;580	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	K	580;580;580;404;580	ENSP00000261196:R580K;ENSP00000370956:R580K;ENSP00000451758:R580K;ENSP00000443225:R404K;ENSP00000441269:R580K	ENSP00000441269:R580K	R	+	2	0	SLCO1B3;RP11-545J16.1	20942693	0.967000	0.33354	0.051000	0.19133	0.013000	0.08279	6.274000	0.72587	2.058000	0.61347	0.455000	0.32223	AGA		0.259	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		14	20	0	0	0	0.004007	0	14	20				
SLCO1B7	338821	broad.mit.edu	37	12	21229434	21229434	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:21229434G>T	ENST00000421593.2	+	12	1655	c.1655G>T	c.(1654-1656)tGt>tTt	p.C552F	RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.V53L|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.C599F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C660F|LST3_ENST00000540229.1_Missense_Mutation_p.C660F|LST3_ENST00000381541.3_Missense_Mutation_p.C599F	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	552						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GATACAACGTGTATGAAGTGG	0.358																																							uc010sil.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1978-1980)TGT>TTT		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							185.0	196.0	192.0					12																	21229434		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21229434G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1655G>T	12.37:g.21229434G>T	ENSP00000394168:p.Cys552Phe					LST-3TM12_uc010sim.1_Missense_Mutation_p.C599F|LST-3TM12_uc010sin.1_Missense_Mutation_p.C552F	p.C660F			Q9NPD5	SO1B3_HUMAN			15	2044	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1979G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.544163	0.27563	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	T;T;T;T;T;T	0.78481	0.14;-1.18;0.14;-1.18;-1.18;-1.18	2.4	2.4	0.29515	.	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	H	0.96239	3.79	0.45648	D	0.998579	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.998	D	0.91155	0.4956	10	0.87932	D	0	.	9.9439	0.41598	0.0:0.0:1.0:0.0	.	552;599;660	G3V0H7;F5H094;Q5JAR4	.;.;.	F	660;599;660;599;552;61	ENSP00000451758:C660F;ENSP00000370952:C599F;ENSP00000441269:C660F;ENSP00000452013:C599F;ENSP00000394168:C552F;ENSP00000439857:C61F	ENSP00000370952:C599F	C	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21120701	1.000000	0.71417	0.104000	0.21259	0.222000	0.24845	6.645000	0.74343	1.322000	0.45245	0.205000	0.17691	TGT		0.358	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		85	63	1	0	1.37401e-58	0.00361	2.5429e-58	85	63				
SSPN	8082	broad.mit.edu	37	12	26383870	26383870	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:26383870A>T	ENST00000242729.2	+	3	770	c.593A>T	c.(592-594)cAg>cTg	p.Q198L	SSPN_ENST00000540266.1_Missense_Mutation_p.Q95L|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.5_ENST00000541940.1_RNA|SSPN_ENST00000535504.1_Intron|SSPN_ENST00000422622.2_Missense_Mutation_p.Q95L|RP11-283G6.5_ENST00000540625.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	198					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TTACTCATCCAGATGATTCTT	0.502																																							uc001rhe.2		NA																	0					0						c.(592-594)CAG>CTG		sarcospan isoform 1							210.0	184.0	193.0					12																	26383870		2203	4300	6503	SO:0001583	missense	8082				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		g.chr12:26383870A>T	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.593A>T	12.37:g.26383870A>T	ENSP00000242729:p.Gln198Leu					SSPN_uc001rhd.2_Missense_Mutation_p.Q95L|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	p.Q198L	NM_005086	NP_005077	Q14714	SSPN_HUMAN			3	693	+	Colorectal(261;0.0847)		198			Helical; (Potential).		B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	c.593A>T	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696209	0.88830	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067	T;T;T;T	0.02552	4.25;4.25;4.25;4.25	4.7	4.7	0.59300	.	0.056160	0.64402	D	0.000001	T	0.12817	0.0311	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00496	-1.1705	10	0.72032	D	0.01	-11.9607	14.4975	0.67700	1.0:0.0:0.0:0.0	.	198	Q14714	SSPN_HUMAN	L	95;95;95;198;172	ENSP00000445360:Q95L;ENSP00000442893:Q95L;ENSP00000396087:Q95L;ENSP00000242729:Q198L	ENSP00000242729:Q198L	Q	+	2	0	SSPN	26275137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.749000	0.91619	1.894000	0.54839	0.460000	0.39030	CAG		0.502	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086		38	95	0	0	0	0.007835	0	38	95				
MRPS35	60488	broad.mit.edu	37	12	27908112	27908112	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:27908112A>G	ENST00000081029.3	+	8	773		c.e8-1		Y_RNA_ENST00000516776.1_RNA|MRPS35_ENST00000538315.1_Splice_Site	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35							mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GTTTTGTTTCAGAATACTGAA	0.308																																							uc001rih.2		NA																	0					0						c.e8-2		mitochondrial ribosomal protein S35 precursor							54.0	61.0	59.0					12																	27908112		2192	4293	6485	SO:0001630	splice_region_variant	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27908112A>G	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.703-1A>G	12.37:g.27908112A>G						MRPS35_uc001rii.2_Splice_Site	p.N235_splice	NM_021821	NP_068593	P82673	RT35_HUMAN			8	751	+	Lung SC(9;0.0873)							B2RDZ7|Q96Q21	Splice_Site	SNP	ENST00000081029.3	37	c.703_splice	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920645	0.52653	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000542791	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0944	0.65010	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRPS35	27799379	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	8.004000	0.88535	2.258000	0.74832	0.523000	0.50628	.		0.308	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821	Intron	12	60	0	0	0	0.001368	0	12	60				
TMTC1	83857	broad.mit.edu	37	12	29670436	29670436	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:29670436C>A	ENST00000539277.1	-	14	2151	c.2093G>T	c.(2092-2094)cGa>cTa	p.R698L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.R590L|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Missense_Mutation_p.R722L|TMTC1_ENST00000551659.1_Missense_Mutation_p.R760L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	698						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTCTTCGTATCGGCCAGTGTT	0.478																																							uc001rjb.2		NA																	0					0						c.(1768-1770)CGA>CTA		transmembrane and tetratricopeptide repeat							156.0	149.0	151.0					12																	29670436		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29670436C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2093G>T	12.37:g.29670436C>A	ENSP00000442046:p.Arg698Leu					TMTC1_uc001riz.2_Missense_Mutation_p.R347L|TMTC1_uc001rja.2_Missense_Mutation_p.R434L|TMTC1_uc001riy.2_Missense_Mutation_p.R43L	p.R590L	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			14	2243	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		698			TPR 7.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1769G>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773274	0.90108	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.54071	0.59;0.59;0.59;1.06	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.982;0.999;0.95	T	0.76589	-0.2904	9	.	.	.	-16.1088	11.6966	0.51546	0.0:0.919:0.0:0.081	.	698;760;43	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	L	461;590;760;722;698	ENSP00000256062:R590L;ENSP00000448112:R760L;ENSP00000449043:R722L;ENSP00000442046:R698L	.	R	-	2	0	TMTC1	29561703	1.000000	0.71417	0.903000	0.35520	0.959000	0.62525	5.124000	0.64709	2.649000	0.89929	0.650000	0.86243	CGA		0.478	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		38	105	1	0	2.68985e-26	0.00361	4.32433e-26	38	105				
TMTC1	83857	broad.mit.edu	37	12	29904703	29904704	+	Missense_Mutation	DNP	CC	CC	AG	rs146096763	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:29904703_29904704CC>AG	ENST00000539277.1	-	5	891_892	c.833_834GG>CT	c.(832-834)cGG>cCT	p.R278P	TMTC1_ENST00000256062.5_Missense_Mutation_p.R170P|TMTC1_ENST00000381224.2_Missense_Mutation_p.R170P|TMTC1_ENST00000552618.1_Missense_Mutation_p.R278P|TMTC1_ENST00000551659.1_Missense_Mutation_p.R278P	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	278						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGTGAGGGAACCGCTGCTGCTT	0.644																																							uc001rjb.2		NA																	0					0						c.(508-510)CGG>CCT		transmembrane and tetratricopeptide repeat																																				SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29904703_29904704CC>AG		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.833_834delinsAG	12.37:g.29904703_29904704delinsAG	ENSP00000442046:p.Arg278Pro					TMTC1_uc001rjc.1_Missense_Mutation_p.R170P	p.R170P	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			5	983_984	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		278					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	DNP	ENST00000539277.1	37	c.509_510GG>CT	CCDS53772.1																																																																																				0.644	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		12	31	0	0	0	0.004672	0	12	31				
PKP2	5318	broad.mit.edu	37	12	33003763	33003763	+	Missense_Mutation	SNP	C	C	T	rs397516992		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:33003763C>T	ENST00000070846.6	-	5	1339	c.1315G>A	c.(1315-1317)Gta>Ata	p.V439I	PKP2_ENST00000340811.4_Missense_Mutation_p.V439I	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	439					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCCGAGGTACCCCATTTAGT	0.433																																							uc001rlj.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1315-1317)GTA>ATA		plakophilin 2 isoform 2b							129.0	127.0	128.0					12																	33003763		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33003763C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1315G>A	12.37:g.33003763C>T	ENSP00000070846:p.Val439Ile					PKP2_uc001rlk.3_Missense_Mutation_p.V439I|PKP2_uc010skj.1_Missense_Mutation_p.V439I	p.V439I	NM_004572	NP_004563	Q99959	PKP2_HUMAN			5	1430	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		439			ARM 3.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1315G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.451183	0.01080	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.70631	-0.5;0.85	4.7	1.8	0.24995	Armadillo-like helical (1);Armadillo-type fold (1);	0.239191	0.35677	N	0.003053	T	0.42108	0.1188	N	0.05441	-0.05	0.25518	N	0.987392	B;B;B	0.15930	0.012;0.015;0.007	B;B;B	0.16289	0.009;0.015;0.007	T	0.30966	-0.9960	10	0.02654	T	1	-10.5033	9.5767	0.39461	0.0:0.6362:0.0:0.3638	.	439;439;439	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	I	439	ENSP00000342800:V439I;ENSP00000070846:V439I	ENSP00000070846:V439I	V	-	1	0	PKP2	32895030	1.000000	0.71417	0.040000	0.18447	0.655000	0.38815	1.065000	0.30592	0.167000	0.19631	-1.598000	0.00824	GTA		0.433	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		63	39	0	0	0	0.00361	0	63	39				
SYT10	341359	broad.mit.edu	37	12	33559808	33559808	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:33559808C>A	ENST00000228567.3	-	3	1289	c.993G>T	c.(991-993)ggG>ggT	p.G331G	SYT10_ENST00000567656.1_5'Flank|RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000535526.1_Silent_p.G150G	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	331	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAATCACTTCCCCAATCATGT	0.363																																							uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(991-993)GGG>GGT		synaptotagmin X							106.0	107.0	106.0					12																	33559808		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33559808C>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.993G>T	12.37:g.33559808C>A						SYT10_uc009zju.1_Silent_p.G141G	p.G331G	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			3	1290	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		331			Cytoplasmic (Potential).|C2 1.		Q495U2	Silent	SNP	ENST00000228567.3	37	c.993G>T	CCDS8732.1																																																																																				0.363	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		23	25	1	0	2.98393e-07	0.00278	3.40668e-07	23	25				
PRICKLE1	144165	broad.mit.edu	37	12	42853934	42853934	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:42853934T>C	ENST00000455697.1	-	8	2458	c.2173A>G	c.(2173-2175)Atc>Gtc	p.I725V	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.I725V|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.I725V|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.I725V|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.I725V	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	725					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCATTCTGGATGTATGCTTGG	0.488																																							uc010skv.1		NA																	0				ovary(3)|skin(1)	4						c.(2173-2175)ATC>GTC		prickle homolog 1							112.0	112.0	112.0					12																	42853934		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853934T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2173A>G	12.37:g.42853934T>C	ENSP00000401060:p.Ile725Val					PRICKLE1_uc001rnl.2_Missense_Mutation_p.I725V|PRICKLE1_uc010skw.1_Missense_Mutation_p.I725V|PRICKLE1_uc001rnm.2_Missense_Mutation_p.I725V|PRICKLE1_uc001rnk.1_5'Flank	p.I725V	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2460	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		725					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.2173A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	9.793	1.178372	0.21787	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.58	-3.25	0.05079	.	0.751244	0.13481	N	0.384663	T	0.60209	0.2251	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54529	-0.8280	10	0.05525	T	0.97	-1.9752	6.5527	0.22444	0.0:0.2019:0.3642:0.4339	.	725	Q96MT3	PRIC1_HUMAN	V	725	ENSP00000401060:I725V;ENSP00000398947:I725V;ENSP00000448359:I725V;ENSP00000345064:I725V;ENSP00000449819:I725V	ENSP00000345064:I725V	I	-	1	0	PRICKLE1	41140201	0.001000	0.12720	0.011000	0.14972	0.996000	0.88848	-0.415000	0.07106	-0.444000	0.07170	0.533000	0.62120	ATC		0.488	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			28	46	0	0	0	0.008361	0	28	46				
ADAMTS20	80070	broad.mit.edu	37	12	43771274	43771274	+	Missense_Mutation	SNP	C	C	G	rs112430320		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:43771274C>G	ENST00000389420.3	-	32	4888	c.4889G>C	c.(4888-4890)cGg>cCg	p.R1630P		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTATAGGCCGAAGTCGATG	0.413																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4888-4890)CGG>CCG		a disintegrin-like and metalloprotease with							132.0	121.0	125.0					12																	43771274		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771274C>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4889G>C	12.37:g.43771274C>G	ENSP00000374071:p.Arg1630Pro						p.R1630P	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4889	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1630			TSP type-1 14.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4889G>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	6.552	0.470158	0.12461	.	.	ENSG00000173157	ENST00000389420	T	0.59906	0.23	5.08	3.26	0.37387	.	0.767160	0.11370	N	0.570964	T	0.51686	0.1689	L	0.46157	1.445	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44682	-0.9312	10	0.49607	T	0.09	.	12.2067	0.54356	0.0:0.8589:0.0:0.1411	.	1630	P59510	ATS20_HUMAN	P	1630	ENSP00000374071:R1630P	ENSP00000374071:R1630P	R	-	2	0	ADAMTS20	42057541	0.000000	0.05858	0.708000	0.30435	0.023000	0.10783	-0.573000	0.05874	0.820000	0.34516	-0.122000	0.15005	CGG		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		19	9	0	0	0	0.010504	0	19	9				
ADAMTS20	80070	broad.mit.edu	37	12	43822270	43822270	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:43822270G>T	ENST00000389420.3	-	26	3718	c.3719C>A	c.(3718-3720)cCa>cAa	p.P1240Q	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P358Q|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1240Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1240	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCATCAATTGGCTGATGGTA	0.443																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3718-3720)CCA>CAA		a disintegrin-like and metalloprotease with							57.0	58.0	58.0					12																	43822270		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822270G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3719C>A	12.37:g.43822270G>T	ENSP00000374071:p.Pro1240Gln					ADAMTS20_uc001rno.1_Missense_Mutation_p.P358Q|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P394Q	p.P1240Q	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	26	3719	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1240			TSP type-1 8.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3719C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	7.692	0.691254	0.15039	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.35	3.35	0.38373	.	0.612559	0.14387	N	0.322750	T	0.23330	0.0564	N	0.17379	0.485	0.24758	N	0.99294	B;B	0.32128	0.013;0.357	B;B	0.30316	0.038;0.114	T	0.11518	-1.0584	10	0.11485	T	0.65	.	3.1731	0.06559	0.0932:0.1274:0.5175:0.2619	.	1240;358	P59510;E9PBD5	ATS20_HUMAN;.	Q	1240;370;358;1240;1240	ENSP00000374071:P1240Q;ENSP00000447427:P370Q;ENSP00000378911:P358Q;ENSP00000448341:P1240Q	ENSP00000374068:P1240Q	P	-	2	0	ADAMTS20	42108537	0.978000	0.34361	0.846000	0.33378	0.945000	0.59286	1.861000	0.39438	1.553000	0.49476	0.585000	0.79938	CCA		0.443	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		19	5	1	0	8.28177e-16	0.007413	1.13194e-15	19	5				
NELL2	4753	broad.mit.edu	37	12	45173785	45173785	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:45173785C>A	ENST00000429094.2	-	4	860	c.356G>T	c.(355-357)aGt>aTt	p.S119I	NELL2_ENST00000549027.1_Missense_Mutation_p.S118I|NELL2_ENST00000551601.1_Missense_Mutation_p.S118I|NELL2_ENST00000452445.2_Missense_Mutation_p.S119I|NELL2_ENST00000395487.2_Missense_Mutation_p.S118I|NELL2_ENST00000437801.2_Missense_Mutation_p.S169I|NELL2_ENST00000333837.4_Missense_Mutation_p.S142I|NELL2_ENST00000547172.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	119	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCGATGGCCACTACTTTCCAG	0.468																																							uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(355-357)AGT>ATT		NEL-like protein 2 isoform b precursor							133.0	124.0	128.0					12																	45173785		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173785C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.356G>T	12.37:g.45173785C>A	ENSP00000390680:p.Ser119Ile					NELL2_uc001rof.3_Missense_Mutation_p.S118I|NELL2_uc001roh.2_Missense_Mutation_p.S119I|NELL2_uc009zkd.2_Missense_Mutation_p.S118I|NELL2_uc010skz.1_Missense_Mutation_p.S169I|NELL2_uc010sla.1_Missense_Mutation_p.S142I|NELL2_uc001roi.1_Missense_Mutation_p.S119I|NELL2_uc010slb.1_Missense_Mutation_p.S118I|NELL2_uc001roj.2_Missense_Mutation_p.S119I	p.S119I	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	951	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	119			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.356G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115344	0.94339	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.02631	4.22;4.22;4.22;4.22;4.22;4.22;4.22;4.22;4.22	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.079026	0.85682	D	0.000000	T	0.18257	0.0438	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.996;0.999;0.998	T	0.00133	-1.2010	10	0.87932	D	0	-22.8145	19.4004	0.94627	0.0:1.0:0.0:0.0	.	142;169;118;119;119;118	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	I	118;119;118;119;118;142;169;118;119;116	ENSP00000378866:S118I;ENSP00000390680:S119I;ENSP00000449332:S118I;ENSP00000394612:S119I;ENSP00000447927:S118I;ENSP00000327988:S142I;ENSP00000416341:S169I;ENSP00000447085:S119I;ENSP00000447384:S116I	ENSP00000327988:S142I	S	-	2	0	NELL2	43460052	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.771000	0.85420	2.577000	0.86979	0.655000	0.94253	AGT		0.468	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		46	18	1	0	2.77807e-22	0.003214	4.24726e-22	46	18				
NELL2	4753	broad.mit.edu	37	12	45269639	45269639	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:45269639A>T	ENST00000429094.2	-	1	518	c.14T>A	c.(13-15)gTc>gAc	p.V5D	NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.V5D|NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000437801.2_Missense_Mutation_p.V55D|NELL2_ENST00000548826.1_Missense_Mutation_p.V5D|NELL2_ENST00000333837.4_Missense_Mutation_p.V28D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	5			V -> I (in dbSNP:rs2658973).			extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTCAGTAAGACCCGAGACTC	0.517																																							uc001rog.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(13-15)GTC>GAC		NEL-like protein 2 isoform b precursor							95.0	101.0	99.0					12																	45269639		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269639A>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.14T>A	12.37:g.45269639A>T	ENSP00000390680:p.Val5Asp					NELL2_uc001rof.3_5'Flank|NELL2_uc001roh.2_Missense_Mutation_p.V5D|NELL2_uc009zkd.2_5'UTR|NELL2_uc010skz.1_Missense_Mutation_p.V55D|NELL2_uc010sla.1_Missense_Mutation_p.V28D|NELL2_uc001roi.1_Missense_Mutation_p.V5D|NELL2_uc010slb.1_5'UTR|NELL2_uc001roj.2_Missense_Mutation_p.V5D	p.V5D	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	1	609	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	5					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.14T>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876119	0.51801	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	D;D;D;D;T;T;T	0.83419	-1.56;-1.56;-1.59;-1.72;2.62;1.26;-0.18	4.95	2.52	0.30459	.	0.951600	0.08764	N	0.897349	T	0.71913	0.3396	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.29085	0.232;0.089;0.093;0.009	B;B;B;B	0.29524	0.103;0.032;0.103;0.004	T	0.58929	-0.7549	10	0.54805	T	0.06	-1.513	11.142	0.48408	0.6784:0.3216:0.0:0.0	.	28;55;5;5	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	D	5;5;28;55;5;5;5	ENSP00000390680:V5D;ENSP00000394612:V5D;ENSP00000327988:V28D;ENSP00000416341:V55D;ENSP00000447085:V5D;ENSP00000448635:V5D;ENSP00000446961:V5D	ENSP00000327988:V28D	V	-	2	0	NELL2	43555906	0.759000	0.28416	0.975000	0.42487	0.979000	0.70002	1.219000	0.32479	0.297000	0.22615	0.528000	0.53228	GTC		0.517	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		49	24	0	0	0	0.00361	0	49	24				
PCED1B	91523	broad.mit.edu	37	12	47630123	47630123	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:47630123A>G	ENST00000546455.1	+	4	2008	c.1277A>G	c.(1276-1278)aAt>aGt	p.N426S	PCED1B_ENST00000432328.1_Missense_Mutation_p.N426S|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	426	Pro-rich.						hydrolase activity (GO:0016787)										GCCCCAGCCAATCCTGAGCCA	0.552																																							uc001rpn.2		NA																	0				skin(3)|ovary(2)	5						c.(1276-1278)AAT>AGT		hypothetical protein LOC91523							20.0	18.0	19.0					12																	47630123		2200	4297	6497	SO:0001583	missense	91523						hydrolase activity	g.chr12:47630123A>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1277A>G	12.37:g.47630123A>G	ENSP00000446688:p.Asn426Ser					FAM113B_uc001rpq.2_Missense_Mutation_p.N426S	p.N426S	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	2008	+	Renal(347;0.138)|Lung SC(27;0.192)		426			Pro-rich.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1277A>G	CCDS8752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.597|5.597	0.294909|0.294909	0.10622|0.10622	.|.	.|.	ENSG00000179715|ENSG00000179715	ENST00000330951|ENST00000546455;ENST00000432328	.|T;T	.|0.28454	.|1.61;1.61	3.71|3.71	-2.97|-2.97	0.05530|0.05530	.|.	.|2.693200	.|0.01648	.|N	.|0.024433	T|T	0.13927|0.13927	0.0337|0.0337	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.16166	.|0.016	.|B	.|0.13407	.|0.009	T|T	0.09015|0.09015	-1.0694|-1.0694	6|10	0.87932|0.22706	D|T	0|0.39	2.0972|2.0972	2.9176|2.9176	0.05757|0.05757	0.3319:0.0:0.3251:0.343|0.3319:0.0:0.3251:0.343	.|.	.|426	.|Q96HM7	.|F113B_HUMAN	V|S	270|426	.|ENSP00000446688:N426S;ENSP00000396040:N426S	ENSP00000328560:I270V|ENSP00000396040:N426S	I|N	+|+	1|2	0|0	FAM113B|FAM113B	45916390|45916390	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.007000|-1.007000	0.03667|0.03667	-0.619000|-0.619000	0.05648|0.05648	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.552	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		8	3	0	0	0	0.004482	0	8	3				
COL2A1	1280	broad.mit.edu	37	12	48386700	48386700	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:48386700C>A	ENST00000380518.3	-	16	1148	c.984G>T	c.(982-984)ctG>ctT	p.L328L	COL2A1_ENST00000337299.6_Silent_p.L259L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	328	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTTCACCAGGCAGGCCACGAG	0.552																																							uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(982-984)CTG>CTT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						89.0	69.0	76.0					12																	48386700		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48386700C>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.984G>T	12.37:g.48386700C>A						COL2A1_uc001rqv.2_Silent_p.L259L	p.L328L	NM_001844	NP_001835	P02458	CO2A1_HUMAN			16	1165	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	328			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.984G>T	CCDS41778.1																																																																																				0.552	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		8	18	1	0	1.06961e-07	0.00308	1.23722e-07	8	18				
WNT10B	7480	broad.mit.edu	37	12	49361986	49361986	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:49361986C>G	ENST00000301061.4	-	4	802	c.454G>C	c.(454-456)Ggt>Cgt	p.G152R	WNT10B_ENST00000407467.1_Missense_Mutation_p.G152R|WNT10B_ENST00000403957.1_Splice_Site_p.G152R	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	152					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TCCTGCTCACCACTGCCCTTC	0.637																																							uc001rss.2		NA																	0				skin(4)|lung(3)	7						c.(454-456)GGT>CGT		wingless-type MMTV integration site family,							45.0	39.0	41.0					12																	49361986		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49361986C>G	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.454G>C	12.37:g.49361986C>G	ENSP00000301061:p.Gly152Arg					WNT10B_uc001rst.2_Missense_Mutation_p.G152R	p.G152R	NM_003394	NP_003385	O00744	WN10B_HUMAN			4	800	-			152					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.454G>C	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480571	0.63849	.	.	ENSG00000169884	ENST00000301061;ENST00000407467;ENST00000403957	T;T;T	0.76060	-0.99;-0.99;-0.99	5.11	5.11	0.69529	.	1.210950	0.05733	N	0.599884	T	0.78799	0.4340	M	0.66297	2.02	0.51012	D	0.999904	B;B	0.20368	0.044;0.001	B;B	0.22152	0.038;0.008	T	0.63296	-0.6669	10	0.87932	D	0	.	17.6909	0.88269	0.0:1.0:0.0:0.0	.	152;152	Q4VAJ4;O00744	.;WN10B_HUMAN	R	152	ENSP00000301061:G152R;ENSP00000384691:G152R;ENSP00000385980:G152R	ENSP00000301061:G152R	G	-	1	0	WNT10B	47648253	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.266000	0.51569	2.552000	0.86080	0.561000	0.74099	GGT;GGT;GGG		0.637	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		36	10	0	0	0	0.005524	0	36	10				
NCKAP5L	57701	broad.mit.edu	37	12	50189365	50189365	+	Missense_Mutation	SNP	G	G	A	rs371319353		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:50189365G>A	ENST00000335999.6	-	8	2479	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	756										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGGTCCACCCGGGCCCCCATG	0.667																																							uc009zlk.2		NA																	0				central_nervous_system(1)	1						c.(2278-2280)CGG>TGG		NCK-associated protein 5-like		G	TRP/ARG	0,3772		0,0,1886	18.0	21.0	20.0		2278	3.5	1.0	12		20	1,8173		0,1,4086	no	missense	NCKAP5L	NM_001037806.3	101	0,1,5972	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	760/1335	50189365	1,11945	1886	4087	5973	SO:0001583	missense	57701							g.chr12:50189365G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2278C>T	12.37:g.50189365G>A	ENSP00000337998:p.Arg760Trp					NCKAP5L_uc001rvc.3_5'UTR|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R353W	p.R760W	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	2480	-			756					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.2278C>T	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.59|13.59	2.281741|2.281741	0.40394|0.40394	0.0|0.0	1.22E-4|1.22E-4	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|T	.|0.50277	.|0.75	4.38|4.38	3.48|3.48	0.39840|0.39840	.|.	.|0.187083	.|0.26373	.|N	.|0.024760	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.36672|0.36672	1.1|1.1	0.31414|0.31414	N|N	0.675083|0.675083	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72338	.|0.977;0.977	T|T	0.60031|0.60031	-0.7342|-0.7342	5|10	.|0.87932	.|D	.|0	-15.1746|-15.1746	9.4162|9.4162	0.38523|0.38523	0.083:0.0:0.7697:0.1474|0.083:0.0:0.7697:0.1474	.|.	.|756;756	.|E2QRB5;Q9HCH0-2	.|.;.	L|W	474|760;756	.|ENSP00000337998:R760W	.|ENSP00000337998:R760W	P|R	-|-	2|1	0|2	NCKAP5L|NCKAP5L	48475632|48475632	0.406000|0.406000	0.25344|0.25344	0.998000|0.998000	0.56505|0.56505	0.969000|0.969000	0.65631|0.65631	1.144000|1.144000	0.31565|0.31565	0.588000|0.588000	0.29660|0.29660	-1.367000|-1.367000	0.01198|0.01198	CCG|CGG		0.667	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		12	1	0	0	0	0.001368	0	12	1				
AQP2	359	broad.mit.edu	37	12	50344880	50344880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:50344880C>A	ENST00000199280.3	+	1	352	c.267C>A	c.(265-267)taC>taA	p.Y89*	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	89					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCGCCTTCTACGTGGCTGCCC	0.657																																							uc001rvn.2		NA																	0				ovary(2)	2						c.(265-267)TAC>TAA		aquaporin 2							25.0	25.0	25.0					12																	50344880		2203	4296	6499	SO:0001587	stop_gained	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344880C>A		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.267C>A	12.37:g.50344880C>A	ENSP00000199280:p.Tyr89*						p.Y89*	NM_000486	NP_000477	P41181	AQP2_HUMAN			1	357	+			89			Helical; (Potential).		Q9UD68	Nonsense_Mutation	SNP	ENST00000199280.3	37	c.267C>A	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257968	0.80246	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	.	.	.	4.46	-4.0	0.04057	.	0.000000	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3896	11.8294	0.52285	0.0:0.4183:0.0:0.5817	.	.	.	.	X	89	.	ENSP00000199280:Y89X	Y	+	3	2	AQP2	48631147	0.643000	0.27269	0.923000	0.36655	0.956000	0.61745	-0.055000	0.11807	-0.857000	0.04115	-0.345000	0.07892	TAC		0.657	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		22	5	1	0	1.87028e-06	0.001882	2.0836e-06	22	5				
LARP4	113251	broad.mit.edu	37	12	50822840	50822840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:50822840G>T	ENST00000398473.2	+	3	401	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	LARP4_ENST00000293618.8_Nonsense_Mutation_p.E97*|LARP4_ENST00000518561.1_Nonsense_Mutation_p.E27*|LARP4_ENST00000522085.1_Nonsense_Mutation_p.E97*|LARP4_ENST00000347328.5_Nonsense_Mutation_p.E97*|LARP4_ENST00000518444.1_Nonsense_Mutation_p.E96*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.E103*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	97					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTTAGGACCAGAAGATCTGAG	0.348																																							uc001rwp.1		NA																	0				ovary(1)	1						c.(289-291)GAA>TAA		c-Mpl binding protein isoform a							123.0	115.0	117.0					12																	50822840		1826	4081	5907	SO:0001587	stop_gained	113251						nucleotide binding|RNA binding	g.chr12:50822840G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.289G>T	12.37:g.50822840G>T	ENSP00000381490:p.Glu97*					LARP4_uc001rwo.1_Nonsense_Mutation_p.E103*|LARP4_uc001rwq.1_Nonsense_Mutation_p.E97*|LARP4_uc001rwr.1_Nonsense_Mutation_p.E97*|LARP4_uc001rws.1_Nonsense_Mutation_p.E96*|LARP4_uc001rwm.2_Nonsense_Mutation_p.E97*|LARP4_uc001rwn.2_Nonsense_Mutation_p.E27*	p.E97*	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			3	433	+			97					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonsense_Mutation	SNP	ENST00000398473.2	37	c.289G>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659086	0.96734	.	.	ENSG00000161813	ENST00000550522;ENST00000293618;ENST00000429001;ENST00000548174;ENST00000548697;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000523389;ENST00000518561;ENST00000347328;ENST00000550260;ENST00000517559;ENST00000552445	.	.	.	5.37	5.37	0.77165	.	0.320112	0.32081	N	0.006601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.3514	0.66705	0.0:0.1483:0.8517:0.0	.	.	.	.	X	27;97;103;105;27;27;97;27;97;97;96;97;27;27;97;96;27;27	.	ENSP00000293618:E97X	E	+	1	0	LARP4	49109107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.737000	0.55060	2.513000	0.84729	0.585000	0.79938	GAA		0.348	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		27	6	1	0	1.30988e-24	0.002096	2.06632e-24	27	6				
SCN8A	6334	broad.mit.edu	37	12	52200380	52200380	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:52200380T>A	ENST00000354534.6	+	27	5288	c.5110T>A	c.(5110-5112)Tca>Aca	p.S1704T	SCN8A_ENST00000545061.1_Missense_Mutation_p.S1663T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1704					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AATCACAACCTCAGCTGGTTG	0.507																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(5110-5112)TCA>ACA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						94.0	95.0	95.0					12																	52200380		2203	4300	6503	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200380T>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5110T>A	12.37:g.52200380T>A	ENSP00000346534:p.Ser1704Thr						p.S1704T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5288	+			1704			IV.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5110T>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616211	0.66672	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.93247	-3.19;-3.19	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97512	1.0067	10	0.87932	D	0	.	15.7455	0.77936	0.0:0.0:0.0:1.0	.	1704	Q9UQD0	SCN8A_HUMAN	T	1704;1663	ENSP00000346534:S1704T;ENSP00000440360:S1663T	ENSP00000346534:S1704T	S	+	1	0	SCN8A	50486647	1.000000	0.71417	0.933000	0.37362	0.994000	0.84299	7.868000	0.87116	2.367000	0.80283	0.528000	0.53228	TCA		0.507	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		47	11	0	0	0	0.00361	0	47	11				
ANKRD33	341405	broad.mit.edu	37	12	52284445	52284445	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:52284445A>C	ENST00000340970.4	+	5	711	c.340A>C	c.(340-342)Acc>Ccc	p.T114P	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.T45P|ANKRD33_ENST00000301190.6_Missense_Mutation_p.T239P			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	114					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAGCTTCGACACCGTGTGGAG	0.657																																							uc001rzf.3		NA																	0					0						c.(340-342)ACC>CCC		ankyrin repeat domain 33 isoform 1							29.0	30.0	29.0					12																	52284445		2203	4300	6503	SO:0001583	missense	341405							g.chr12:52284445A>C		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.340A>C	12.37:g.52284445A>C	ENSP00000344690:p.Thr114Pro					ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.T239P|ANKRD33_uc001rze.2_Missense_Mutation_p.T135P|ANKRD33_uc001rzg.3_Missense_Mutation_p.T41P|ANKRD33_uc001rzi.3_Missense_Mutation_p.T114P	p.T114P	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	919	+			114			ANK 3.		Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.340A>C	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109355	0.37242	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.71461	-0.57;1.25;-0.15	4.8	-0.423	0.12325	Ankyrin repeat-containing domain (4);	0.377447	0.28952	N	0.013612	T	0.74465	0.3720	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.996	P;D;D	0.64877	0.767;0.93;0.925	T	0.63726	-0.6572	10	0.62326	D	0.03	-2.2334	3.6538	0.08213	0.5521:0.0:0.29:0.1579	.	114;45;239	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	P	239;45;114	ENSP00000301190:T239P;ENSP00000443722:T45P;ENSP00000344690:T114P	ENSP00000301190:T239P	T	+	1	0	ANKRD33	50570712	0.994000	0.37717	0.000000	0.03702	0.132000	0.20833	3.406000	0.52637	-0.148000	0.11234	0.459000	0.35465	ACC		0.657	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		8	22	0	0	0	0.006214	0	8	22				
ACVR1B	91	broad.mit.edu	37	12	52385742	52385742	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:52385742C>G	ENST00000257963.4	+	8	1434	c.1357C>G	c.(1357-1359)Cgt>Ggt	p.R453G	ACVR1B_ENST00000542485.1_Missense_Mutation_p.R401G|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R494G|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R453G|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCAGAAGCTGCGTCCCAACAT	0.498																																							uc001rzn.2		NA																	0				pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(1357-1359)CGT>GGT		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						157.0	135.0	142.0					12																	52385742		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52385742C>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1357C>G	12.37:g.52385742C>G	ENSP00000257963:p.Arg453Gly					ACVR1B_uc001rzm.2_Missense_Mutation_p.R453G|ACVR1B_uc010snn.1_Missense_Mutation_p.R494G	p.R453G	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	8	1399	+			453			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1357C>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706198	0.68615	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000542485	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.05	4.05	0.47172	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.99;0.997;1.0	D	0.90653	0.4584	10	0.87932	D	0	.	17.5301	0.87811	0.0:1.0:0.0:0.0	.	494;453;453	P36896-4;P36896;P36896-2	.;ACV1B_HUMAN;.	G	453;494;453;401	ENSP00000257963:R453G;ENSP00000442656:R494G;ENSP00000390477:R453G;ENSP00000442885:R401G	ENSP00000257963:R453G	R	+	1	0	ACVR1B	50672009	0.990000	0.36364	0.996000	0.52242	0.967000	0.64934	2.905000	0.48727	2.545000	0.85829	0.462000	0.41574	CGT		0.498	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		54	12	0	0	0	0.00361	0	54	12				
SP1	6667	broad.mit.edu	37	12	53777109	53777109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:53777109G>T	ENST00000327443.4	+	3	1476	c.1378G>T	c.(1378-1380)Gga>Tga	p.G460*	SP1_ENST00000426431.2_Nonsense_Mutation_p.G453*	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	460	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGGGCCCAATGGACAGGTCAG	0.542																																							uc001scw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1378-1380)GGA>TGA		Sp1 transcription factor isoform a							143.0	147.0	146.0					12																	53777109		2203	4300	6503	SO:0001587	stop_gained	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777109G>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1378G>T	12.37:g.53777109G>T	ENSP00000329357:p.Gly460*					SP1_uc010sog.1_Nonsense_Mutation_p.G453*	p.G460*	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1475	+			460			Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Nonsense_Mutation	SNP	ENST00000327443.4	37	c.1378G>T	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054283	0.93793	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	.	.	.	4.67	4.67	0.58626	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.8884	0.86081	0.0:0.0:1.0:0.0	.	.	.	.	X	460;453	.	ENSP00000329357:G460X	G	+	1	0	SP1	52063376	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.479000	0.97929	2.595000	0.87683	0.467000	0.42956	GGA		0.542	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			26	64	1	0	7.26314e-15	0.007291	9.69421e-15	26	64				
RDH5	5959	broad.mit.edu	37	12	56117674	56117674	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:56117674G>A	ENST00000257895.5	+	4	726	c.574G>A	c.(574-576)Gat>Aat	p.D192N	RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Missense_Mutation_p.D95N|RDH5_ENST00000548082.1_Missense_Mutation_p.D192N	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	192					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CTCTAGGCGGGATGTAGCTCA	0.567																																							uc001shk.2		NA																	0				ovary(1)	1						c.(574-576)GAT>AAT		retinol dehydrogenase 5 (11-cis and 9-cis)	NADH(DB00157)|Vitamin A(DB00162)						67.0	61.0	63.0					12																	56117674		2203	4300	6503	SO:0001583	missense	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56117674G>A	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.574G>A	12.37:g.56117674G>A	ENSP00000257895:p.Asp192Asn					RDH5_uc001shl.2_Missense_Mutation_p.D192N	p.D192N	NM_002905	NP_002896	Q92781	RDH1_HUMAN			4	757	+			192					O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	c.574G>A	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822232	0.50739	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.93488	-3.23;-3.23;-3.23	5.05	5.05	0.67936	NAD(P)-binding domain (1);	0.046613	0.85682	D	0.000000	D	0.93877	0.8041	M	0.66506	2.035	0.80722	D	1	P	0.49307	0.922	P	0.48598	0.583	D	0.94214	0.7461	10	0.56958	D	0.05	.	16.2876	0.82729	0.0:0.0:1.0:0.0	.	192	Q92781	RDH1_HUMAN	N	95;192;192	ENSP00000449927:D95N;ENSP00000257895:D192N;ENSP00000447128:D192N	ENSP00000257895:D192N	D	+	1	0	RDH5	54403941	1.000000	0.71417	0.969000	0.41365	0.263000	0.26337	6.619000	0.74219	2.526000	0.85167	0.462000	0.41574	GAT		0.567	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		35	9	0	0	0	0.004289	0	35	9				
PMEL	6490	broad.mit.edu	37	12	56348026	56348026	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:56348026C>T	ENST00000548747.1	-	11	2620	c.1958G>A	c.(1957-1959)aGc>aAc	p.S653N	PMEL_ENST00000539511.1_Missense_Mutation_p.S567N|PMEL_ENST00000550447.1_Missense_Mutation_p.S282N|PMEL_ENST00000550464.1_Missense_Mutation_p.S567N|PMEL_ENST00000536427.1_Missense_Mutation_p.S618N|PMEL_ENST00000552882.1_Missense_Mutation_p.S653N|PMEL_ENST00000548493.1_Missense_Mutation_p.S653N|PMEL_ENST00000360714.4_Missense_Mutation_p.S660N|PMEL_ENST00000449260.2_Missense_Mutation_p.S660N			P40967	PMEL_HUMAN	premelanosome protein	653					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGAGGGGGCTGTTCTCACC	0.527																																							uc001sip.2		NA																	0					0						c.(1957-1959)AGC>AAC		silver homolog							109.0	98.0	102.0					12																	56348026		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56348026C>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1958G>A	12.37:g.56348026C>T	ENSP00000448828:p.Ser653Asn					SILV_uc001siq.2_Missense_Mutation_p.S660N|SILV_uc010spx.1_Missense_Mutation_p.S567N|SILV_uc001sir.2_Missense_Mutation_p.S653N	p.S653N	NM_006928	NP_008859	P40967	PMEL_HUMAN			11	1989	-			653			Cytoplasmic (Potential).		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.1958G>A	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193330	0.58017	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447	T;T;T;T;T;T;T;T	0.19250	2.55;2.54;2.51;2.54;2.54;2.54;2.16;2.51	5.61	3.8	0.43715	.	0.238231	0.37053	N	0.002263	T	0.23210	0.0561	L	0.46157	1.445	0.27892	N	0.939307	P;P;P	0.47545	0.897;0.897;0.799	P;B;B	0.47470	0.548;0.371;0.156	T	0.04796	-1.0926	10	0.44086	T	0.13	-0.3726	8.9312	0.35672	0.0:0.8286:0.0:0.1714	.	567;660;653	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	N	660;653;567;653;653;660;618;567;282	ENSP00000402758:S660N;ENSP00000449690:S653N;ENSP00000450036:S567N;ENSP00000448828:S653N;ENSP00000447374:S653N;ENSP00000353940:S660N;ENSP00000438695:S618N;ENSP00000445005:S567N	ENSP00000353940:S660N	S	-	2	0	PMEL	54634293	0.904000	0.30761	0.657000	0.29651	0.969000	0.65631	1.545000	0.36169	0.861000	0.35504	0.561000	0.74099	AGC		0.527	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		38	6	0	0	0	0.004878	0	38	6				
PPM1H	57460	broad.mit.edu	37	12	63225978	63225978	+	Silent	SNP	G	G	T	rs371630268		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:63225978G>T	ENST00000228705.6	-	2	627	c.327C>A	c.(325-327)gcC>gcA	p.A109A		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	109							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TTGAGGTCACGGCCCCTGCCT	0.552																																							uc001srk.3		NA																	0				lung(3)|ovary(1)	4						c.(325-327)GCC>GCA		protein phosphatase 1H (PP2C domain containing)							91.0	88.0	89.0					12																	63225978		1965	4144	6109	SO:0001819	synonymous_variant	57460						phosphoprotein phosphatase activity	g.chr12:63225978G>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.327C>A	12.37:g.63225978G>T							p.A109A	NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	2	476	-			109					B1Q2A9|B2RXG4|Q6PI86	Silent	SNP	ENST00000228705.6	37	c.327C>A	CCDS44934.1																																																																																				0.552	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		14	16	1	0	2.61681e-11	0.00245	3.26933e-11	14	16				
AVPR1A	552	broad.mit.edu	37	12	63544072	63544072	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:63544072C>T	ENST00000299178.2	-	1	650	c.545G>A	c.(544-546)aGc>aAc	p.S182N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	182					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTGCGGCGTGCTCAGCACGAA	0.652																																							uc001sro.1		NA																	0					0						c.(544-546)AGC>AAC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						52.0	54.0	53.0					12																	63544072		2202	4299	6501	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544072C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.545G>A	12.37:g.63544072C>T	ENSP00000299178:p.Ser182Asn						p.S182N	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2519	-			182			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.545G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354046	0.82243	.	.	ENSG00000166148	ENST00000299178	T	0.44881	0.91	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83080	-0.0138	9	.	.	.	-34.6864	17.7032	0.88301	0.0:1.0:0.0:0.0	.	182	P37288	V1AR_HUMAN	N	182	ENSP00000299178:S182N	.	S	-	2	0	AVPR1A	61830339	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	5.912000	0.69948	2.416000	0.81992	0.455000	0.32223	AGC		0.652	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			57	6	0	0	0	0.00361	0	57	6				
DPY19L2	283417	broad.mit.edu	37	12	63954414	63954414	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:63954414C>A	ENST00000324472.4	-	22	2338	c.2155G>T	c.(2155-2157)Gat>Tat	p.D719Y	DPY19L2_ENST00000413230.2_Missense_Mutation_p.D166Y	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	719					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCTTCCACATCCCAGATTTCA	0.423																																							uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2155-2157)GAT>TAT		dpy-19-like 2							58.0	51.0	53.0					12																	63954414		2203	4299	6502	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63954414C>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2155G>T	12.37:g.63954414C>A	ENSP00000315988:p.Asp719Tyr					DPY19L2_uc010sso.1_Missense_Mutation_p.D166Y	p.D719Y	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	22	2336	-			719					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.2155G>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732416	0.48939	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.70282	-0.47;-0.47	3.0	3.0	0.34707	.	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.90082	3.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85987	0.1486	9	.	.	.	.	9.8209	0.40883	0.0:1.0:0.0:0.0	.	719	Q6NUT2	D19L2_HUMAN	Y	719;166	ENSP00000315988:D719Y;ENSP00000439794:D166Y	.	D	-	1	0	DPY19L2	62240681	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	6.947000	0.75959	1.390000	0.46547	0.162000	0.16502	GAT		0.423	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		16	3	1	0	0.00074312	0.006122	0.000778124	16	3				
MDM1	56890	broad.mit.edu	37	12	68710012	68710012	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:68710012C>G	ENST00000303145.7	-	8	1113	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	MDM1_ENST00000540418.1_Missense_Mutation_p.A63P|MDM1_ENST00000411698.2_Missense_Mutation_p.A308P	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	343					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TAAAACTCAGCCTTTTCTCGG	0.403																																							uc001stz.2		NA																	0				ovary(3)|skin(2)	5						c.(1027-1029)GCT>CCT		mouse Mdm1 nuclear protein homolog isoform 1							80.0	78.0	79.0					12																	68710012		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68710012C>G	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1027G>C	12.37:g.68710012C>G	ENSP00000302537:p.Ala343Pro					MDM1_uc010stc.1_Missense_Mutation_p.A308P|MDM1_uc009zqv.1_Missense_Mutation_p.A63P	p.A343P	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	8	1163	-			343					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.1027G>C	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811367	0.90707	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.64803	-0.12;-0.12;-0.12	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79288	-0.1865	9	.	.	.	-19.3814	20.3824	0.98936	0.0:1.0:0.0:0.0	.	308;343	E7EPQ3;Q8TC05	.;MDM1_HUMAN	P	63;343;308	ENSP00000443815:A63P;ENSP00000302537:A343P;ENSP00000391006:A308P	.	A	-	1	0	MDM1	66996279	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.978000	0.70501	2.902000	0.99343	0.650000	0.86243	GCT		0.403	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		16	2	0	0	0	0.004007	0	16	2				
KCNC2	3747	broad.mit.edu	37	12	75444566	75444566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:75444566C>A	ENST00000549446.1	-	3	1899	c.1219G>T	c.(1219-1221)Gga>Tga	p.G407*	KCNC2_ENST00000548513.1_Nonsense_Mutation_p.G407*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.G407*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.G407*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.G407*|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.G407*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.G407*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.G407*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	407					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GGTTGAGCTCCCACTCTCTCG	0.448																																							uc001sxg.1		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1219-1221)GGA>TGA		Shaw-related voltage-gated potassium channel							75.0	70.0	72.0					12																	75444566		2203	4300	6503	SO:0001587	stop_gained	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444566C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1219G>T	12.37:g.75444566C>A	ENSP00000449253:p.Gly407*					KCNC2_uc009zry.2_Nonsense_Mutation_p.G407*|KCNC2_uc001sxe.2_Nonsense_Mutation_p.G407*|KCNC2_uc001sxf.2_Nonsense_Mutation_p.G407*|KCNC2_uc010stw.1_Nonsense_Mutation_p.G407*	p.G407*	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1763	-			407					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Nonsense_Mutation	SNP	ENST00000549446.1	37	c.1219G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	43	10.302008	0.99379	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	407	.	ENSP00000298972:G407X	G	-	1	0	KCNC2	73730833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	GGA		0.448	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		27	6	1	0	6.04164e-23	0.002096	9.30298e-23	27	6				
KCNC2	3747	broad.mit.edu	37	12	75601353	75601353	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:75601353C>A	ENST00000549446.1	-	2	1091	c.411G>T	c.(409-411)gaG>gaT	p.E137D	KCNC2_ENST00000548513.1_Missense_Mutation_p.E137D|KCNC2_ENST00000298972.1_Missense_Mutation_p.E137D|KCNC2_ENST00000393288.2_Missense_Mutation_p.E137D|KCNC2_ENST00000540018.1_Missense_Mutation_p.E137D|KCNC2_ENST00000350228.2_Missense_Mutation_p.E137D|KCNC2_ENST00000550433.1_Missense_Mutation_p.E137D|KCNC2_ENST00000341669.3_Missense_Mutation_p.E137D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	137					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AGAAGGCCAGCTCCTCCTCGA	0.667																																							uc001sxg.1		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(409-411)GAG>GAT		Shaw-related voltage-gated potassium channel							35.0	39.0	37.0					12																	75601353		2203	4299	6502	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601353C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.411G>T	12.37:g.75601353C>A	ENSP00000449253:p.Glu137Asp					KCNC2_uc009zry.2_Missense_Mutation_p.E137D|KCNC2_uc001sxe.2_Missense_Mutation_p.E137D|KCNC2_uc001sxf.2_Missense_Mutation_p.E137D|KCNC2_uc010stw.1_Missense_Mutation_p.E137D	p.E137D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	955	-			137			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.411G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819278	0.71028	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	3.52	2.62	0.31277	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.275476	0.25674	N	0.029043	D	0.93288	0.7861	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.69078	0.993;0.987;0.997;0.987;0.994	D;D;D;D;D	0.70935	0.96;0.928;0.971;0.928;0.944	D	0.92642	0.6125	10	0.48119	T	0.1	.	11.1204	0.48287	0.0:0.9077:0.0:0.0923	.	137;137;137;137;137	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	D	137	ENSP00000448301:E137D;ENSP00000449941:E137D;ENSP00000449253:E137D;ENSP00000340121:E137D;ENSP00000298972:E137D;ENSP00000319877:E137D;ENSP00000438423:E137D;ENSP00000376966:E137D	ENSP00000298972:E137D	E	-	3	2	KCNC2	73887620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.368000	0.44222	0.824000	0.34613	0.563000	0.77884	GAG		0.667	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		41	13	1	0	1.41504e-22	0.002852	2.16852e-22	41	13				
NAV3	89795	broad.mit.edu	37	12	78362454	78362454	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:78362454G>T	ENST00000397909.2	+	5	816	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	NAV3_ENST00000228327.6_Missense_Mutation_p.A215S|NAV3_ENST00000536525.2_Missense_Mutation_p.A215S|NAV3_ENST00000266692.7_Missense_Mutation_p.A215S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	215						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCAGCCAGGCCAAAACCCA	0.443										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(643-645)GCC>TCC		neuron navigator 3							52.0	54.0	54.0					12																	78362454		1966	4170	6136	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362454G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.643G>T	12.37:g.78362454G>T	ENSP00000381007:p.Ala215Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.A215S	p.A215S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			5	816	+			215					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.643G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.990|5.990	0.366630|0.366630	0.11352|0.11352	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.55588|.	0.51;0.51;0.51;0.51;0.51|.	5.85|5.85	2.78|2.78	0.32641|0.32641	Calponin homology domain (1);|.	0.728781|.	0.10960|.	U|.	0.615096|.	T|T	0.22205|0.22205	0.0535|0.0535	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.05194|0.05194	-1.0900|-1.0900	10|5	0.06494|.	T|.	0.89|.	-2.21|-2.21	1.237|1.237	0.01955|0.01955	0.1712:0.2194:0.3893:0.2201|0.1712:0.2194:0.3893:0.2201	.|.	215;215|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	S|V	215|61	ENSP00000446628:A215S;ENSP00000446132:A215S;ENSP00000381007:A215S;ENSP00000228327:A215S;ENSP00000266692:A215S|.	ENSP00000228327:A215S|.	A|G	+|+	1|2	0|0	NAV3|NAV3	76886585|76886585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	0.979000|0.979000	0.29500|0.29500	0.819000|0.819000	0.34492|0.34492	0.637000|0.637000	0.83480|0.83480	GCC|GGC		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		15	0	1	0	1.5739e-10	0.004007	1.93387e-10	15	0				
METTL25	84190	broad.mit.edu	37	12	82871108	82871108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:82871108C>T	ENST00000248306.3	+	11	1765	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*		NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	566							methyltransferase activity (GO:0008168)										TCTTCTGGATCGACTTTGTTA	0.294																																							uc001szq.2		NA																	0					0						c.(1696-1698)CGA>TGA		hypothetical protein LOC84190							86.0	94.0	91.0					12																	82871108		2203	4294	6497	SO:0001587	stop_gained	84190							g.chr12:82871108C>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1696C>T	12.37:g.82871108C>T	ENSP00000248306:p.Arg566*						p.R566*	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			11	1717	+			566					Q9H5Y3	Nonsense_Mutation	SNP	ENST00000248306.3	37	c.1696C>T	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	C	37	6.430322	0.97559	.	.	ENSG00000127720	ENST00000248306	.	.	.	4.7	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5815	14.2647	0.66110	0.1503:0.8497:0.0:0.0	.	.	.	.	X	566	.	ENSP00000248306:R566X	R	+	1	2	C12orf26	81395239	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.740000	0.55082	1.060000	0.40578	0.484000	0.47621	CGA		0.294	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		21	42	0	0	0	0.002299	0	21	42				
C12orf50	160419	broad.mit.edu	37	12	88391905	88391905	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:88391905G>A	ENST00000298699.2	-	4	376	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	C12orf50_ENST00000550553.1_Silent_p.L66L	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	66								p.L66V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAGGTTTCAGAGGTTCTTGA	0.373																																							uc001tam.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(196-198)CTG>TTG		hypothetical protein LOC160419							144.0	139.0	141.0					12																	88391905		2203	4300	6503	SO:0001819	synonymous_variant	160419							g.chr12:88391905G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.196C>T	12.37:g.88391905G>A						C12orf50_uc001tan.2_Silent_p.L120L	p.L66L	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			4	364	-			66					Q6P674	Silent	SNP	ENST00000298699.2	37	c.196C>T	CCDS9031.1																																																																																				0.373	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		22	6	0	0	0	0.00278	0	22	6				
CCER1	196477	broad.mit.edu	37	12	91348364	91348364	+	Missense_Mutation	SNP	G	G	T	rs372103112		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:91348364G>T	ENST00000358859.2	-	1	589	c.156C>A	c.(154-156)caC>caA	p.H52Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	52																	GGCTATATCGGTGCGGTCTAT	0.647																																							uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(154-156)CAC>CAA		hypothetical protein LOC196477							36.0	36.0	36.0					12																	91348364		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91348364G>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.156C>A	12.37:g.91348364G>T	ENSP00000351727:p.His52Gln						p.H52Q	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	590	-			52					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.156C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	3.072	-0.190863	0.06299	.	.	ENSG00000197651	ENST00000358859	T	0.35048	1.33	4.87	-0.839	0.10759	.	2.049120	0.02691	N	0.110612	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.14980	-1.0453	10	0.39692	T	0.17	0.01	4.4736	0.11724	0.0946:0.4595:0.3061:0.1398	.	52	Q8TC90	CL012_HUMAN	Q	52	ENSP00000351727:H52Q	ENSP00000351727:H52Q	H	-	3	2	C12orf12	89872495	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.204000	0.09425	-0.353000	0.08224	0.462000	0.41574	CAC		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		9	17	1	0	1.12685e-05	0.004482	1.23405e-05	9	17				
NR2C1	7181	broad.mit.edu	37	12	95451334	95451334	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:95451334C>G	ENST00000333003.5	-	7	1108	c.778G>C	c.(778-780)Gat>Cat	p.D260H	NR2C1_ENST00000330677.7_Missense_Mutation_p.D260H|NR2C1_ENST00000393101.3_Missense_Mutation_p.D260H|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	260					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CACACCTTATCTGATGTCATC	0.328																																							uc001tdm.3		NA																	0				ovary(1)	1						c.(778-780)GAT>CAT		nuclear receptor subfamily 2, group C, member 1							69.0	67.0	68.0					12																	95451334		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95451334C>G	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.778G>C	12.37:g.95451334C>G	ENSP00000333275:p.Asp260His					NR2C1_uc010suu.1_Missense_Mutation_p.D260H|NR2C1_uc001tdo.3_Missense_Mutation_p.D260H|NR2C1_uc001tdn.3_Missense_Mutation_p.D260H	p.D260H	NM_003297	NP_003288	P13056	NR2C1_HUMAN			7	1034	-			260					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.778G>C	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655033	0.67472	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.91996	-2.95;-2.76;-2.75	5.85	5.85	0.93711	Nuclear hormone receptor, ligand-binding (1);	0.322330	0.41001	D	0.000963	D	0.89891	0.6846	L	0.32530	0.975	0.48185	D	0.999605	P;P;P;P	0.47409	0.8;0.874;0.895;0.612	P;P;P;B	0.51355	0.467;0.667;0.632;0.278	D	0.86160	0.1593	10	0.13108	T	0.6	.	13.3707	0.60711	0.0:0.9284:0.0:0.0716	.	260;260;260;260	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	H	260	ENSP00000333275:D260H;ENSP00000376813:D260H;ENSP00000328843:D260H	ENSP00000328843:D260H	D	-	1	0	NR2C1	93975465	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.193000	0.65120	2.773000	0.95371	0.655000	0.94253	GAT		0.328	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		23	5	0	0	0	0.001882	0	23	5				
ANO4	121601	broad.mit.edu	37	12	101295615	101295615	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:101295615C>A	ENST00000392977.3	+	2	262	c.52C>A	c.(52-54)Cca>Aca	p.P18T	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.P18T|ANO4_ENST00000538618.1_Missense_Mutation_p.P184T			Q32M45	ANO4_HUMAN	anoctamin 4	18					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGTCTTCCACCCAGGTGATGC	0.458										HNSCC(74;0.22)																													uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(52-54)CCA>ACA		anoctamin 4							88.0	87.0	87.0					12																	101295615		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101295615C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.52C>A	12.37:g.101295615C>A	ENSP00000376703:p.Pro18Thr	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.P18T|ANO4_uc001thx.2_Missense_Mutation_p.P18T	p.P18T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			2	624	+			18			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.52C>A		.	.	.	.	.	.	.	.	.	.	C	16.27	3.075743	0.55646	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.74421	-0.84;1.01;-0.26	5.63	2.73	0.32206	.	0.504521	0.19432	N	0.114420	T	0.65770	0.2723	L	0.38175	1.15	0.80722	D	1	B;B	0.30281	0.18;0.275	B;B	0.24848	0.025;0.056	T	0.62553	-0.6830	10	0.62326	D	0.03	.	16.4681	0.84090	0.0:0.5542:0.4458:0.0	.	18;18	Q32M45;Q32M45-2	ANO4_HUMAN;.	T	184;18;18	ENSP00000443751:P184T;ENSP00000376705:P18T;ENSP00000376703:P18T	ENSP00000376703:P18T	P	+	1	0	ANO4	99819746	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	1.725000	0.38074	0.292000	0.22492	-0.181000	0.13052	CCA		0.458	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		33	47	1	0	4.3181e-19	0.002836	6.26967e-19	33	47				
ANO4	121601	broad.mit.edu	37	12	101480565	101480565	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:101480565T>A	ENST00000392977.3	+	17	1874	c.1664T>A	c.(1663-1665)gTg>gAg	p.V555E	ANO4_ENST00000299222.9_Missense_Mutation_p.V75E|ANO4_ENST00000550015.1_Missense_Mutation_p.V75E|ANO4_ENST00000392979.3_Missense_Mutation_p.V520E			Q32M45	ANO4_HUMAN	anoctamin 4	555					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGGACTGCTGTGTGCATCAAC	0.483										HNSCC(74;0.22)																													uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(1663-1665)GTG>GAG		anoctamin 4							214.0	173.0	187.0					12																	101480565		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101480565T>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1664T>A	12.37:g.101480565T>A	ENSP00000376703:p.Val555Glu	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.V520E|ANO4_uc001thx.2_Missense_Mutation_p.V555E|ANO4_uc001thy.2_Missense_Mutation_p.V75E	p.V555E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			17	2236	+			555			Helical; (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1664T>A		.	.	.	.	.	.	.	.	.	.	T	31	5.084710	0.94100	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.80924	0.4717	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.995	D;D;D	0.87578	0.998;0.985;0.975	T	0.82918	-0.0219	10	0.54805	T	0.06	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	75;555;520	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	E	520;75;555;75	ENSP00000376705:V520E;ENSP00000299222:V75E;ENSP00000376703:V555E;ENSP00000450192:V75E	ENSP00000299222:V75E	V	+	2	0	ANO4	100004696	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	8.040000	0.89188	2.217000	0.71921	0.533000	0.62120	GTG		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		51	9	0	0	0	0.00361	0	51	9				
MYBPC1	4604	broad.mit.edu	37	12	102023252	102023252	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:102023252C>A	ENST00000550270.1	+	4	144	c.144C>A	c.(142-144)gcC>gcA	p.A48A	MYBPC1_ENST00000452455.2_Silent_p.A48A|MYBPC1_ENST00000545503.2_Silent_p.A48A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Silent_p.A61A|MYBPC1_ENST00000547509.1_Silent_p.A34A|MYBPC1_ENST00000536007.1_Silent_p.A48A|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000541119.1_Silent_p.A36A|MYBPC1_ENST00000361685.2_Silent_p.A73A|MYBPC1_ENST00000547405.1_Silent_p.A22A|MYBPC1_ENST00000392934.3_Silent_p.A35A|MYBPC1_ENST00000361466.2_Silent_p.A73A|MYBPC1_ENST00000360610.2_Silent_p.A48A|MYBPC1_ENST00000441232.1_Silent_p.A48A|MYBPC1_ENST00000553190.1_Silent_p.A48A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	48					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGAACAAGCCAAGCAGAATG	0.478																																							uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(142-144)GCC>GCA		myosin binding protein C, slow type isoform 3							98.0	93.0	95.0					12																	102023252		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102023252C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.144C>A	12.37:g.102023252C>A						MYBPC1_uc001tif.1_Silent_p.A61A|MYBPC1_uc001tig.2_Silent_p.A73A|MYBPC1_uc010svq.1_Silent_p.A35A|MYBPC1_uc001tih.2_Silent_p.A73A|MYBPC1_uc001tij.2_Silent_p.A48A|MYBPC1_uc010svr.1_Silent_p.A48A|MYBPC1_uc010svs.1_Silent_p.A48A|MYBPC1_uc010svt.1_Silent_p.A36A|MYBPC1_uc010svu.1_Silent_p.A48A|MYBPC1_uc001tik.2_Silent_p.A22A	p.A48A	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			4	246	+			48					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.144C>A	CCDS9085.1																																																																																				0.478	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			23	5	1	0	7.92952e-12	0.003954	9.99719e-12	23	5				
STAB2	55576	broad.mit.edu	37	12	104129323	104129323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:104129323G>T	ENST00000388887.2	+	52	5719	c.5515G>T	c.(5515-5517)Gag>Tag	p.E1839*		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCAAGGTTCAGAGCTGAGTGT	0.532																																							uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(5515-5517)GAG>TAG		stabilin 2 precursor							76.0	65.0	69.0					12																	104129323		2203	4300	6503	SO:0001587	stop_gained	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104129323G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5515G>T	12.37:g.104129323G>T	ENSP00000373539:p.Glu1839*					STAB2_uc009zug.2_RNA	p.E1839*	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			52	5701	+			1839			Extracellular (Potential).|FAS1 6.			Nonsense_Mutation	SNP	ENST00000388887.2	37	c.5515G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	44	10.686630	0.99450	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.26	3.42	0.39159	.	0.569870	0.17654	N	0.166594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	8.4848	0.33065	0.0839:0.1542:0.7619:0.0	.	.	.	.	X	1839;526	.	ENSP00000258495:E526X	E	+	1	0	STAB2	102653453	0.943000	0.32029	0.138000	0.22173	0.060000	0.15804	1.976000	0.40579	0.602000	0.29896	0.455000	0.32223	GAG		0.532	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			12	5	1	0	1.61879e-10	0.001368	1.98651e-10	12	5				
RFX4	5992	broad.mit.edu	37	12	107090223	107090223	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:107090223A>T	ENST00000392842.1	+	8	1246	c.832A>T	c.(832-834)Agc>Tgc	p.S278C	RFX4_ENST00000357881.4_Splice_Site_p.S287C|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Splice_Site_p.S184C	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	278					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATTACCTGACAGGTGGGCATG	0.522																																							uc001tlr.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(832-834)AGC>TGC		regulatory factor X4 isoform c							111.0	92.0	99.0					12																	107090223		2203	4300	6503	SO:0001630	splice_region_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107090223A>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.833+1A>T	12.37:g.107090223A>T						RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Missense_Mutation_p.S287C|RFX4_uc001tlt.2_Missense_Mutation_p.S287C|RFX4_uc001tlv.2_Missense_Mutation_p.S184C	p.S278C	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			8	898	+			278					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.832A>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878400	0.91740	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.86865	-0.29;-0.29;-2.18;0.68	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.79108	0.989;0.992;0.992;0.955	D	0.92831	0.6280	10	0.87932	D	0	-15.8228	15.5434	0.76074	1.0:0.0:0.0:0.0	.	184;287;287;278	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	C	278;287;287;223;184	ENSP00000376585:S278C;ENSP00000350552:S287C;ENSP00000448694:S223C;ENSP00000229387:S184C	ENSP00000229387:S184C	S	+	1	0	RFX4	105614353	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.792000	0.91856	2.064000	0.61679	0.533000	0.62120	AGC		0.522	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	Missense_Mutation	39	6	0	0	0	0.00623	0	39	6				
ACACB	32	broad.mit.edu	37	12	109577742	109577742	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:109577742G>T	ENST00000338432.7	+	2	651	c.532G>T	c.(532-534)Gac>Tac	p.D178Y	ACACB_ENST00000377854.5_Missense_Mutation_p.D178Y|ACACB_ENST00000377848.3_Missense_Mutation_p.D178Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	178					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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTCCGACGAGGACTCTGTTGC	0.572																																							uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(532-534)GAC>TAC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						76.0	78.0	78.0					12																	109577742		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577742G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.532G>T	12.37:g.109577742G>T	ENSP00000341044:p.Asp178Tyr					ACACB_uc001toc.2_Missense_Mutation_p.D178Y	p.D178Y	NM_001093	NP_001084	O00763	ACACB_HUMAN			2	651	+			178					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.532G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724417	0.68959	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.19806	2.12;2.12;2.12	5.87	5.87	0.94306	.	0.247806	0.38217	N	0.001770	T	0.34395	0.0896	L	0.47716	1.5	0.80722	D	1	P	0.47545	0.897	P	0.54590	0.756	T	0.00735	-1.1588	10	0.54805	T	0.06	.	15.7193	0.77694	0.0:0.0:1.0:0.0	.	178	O00763	ACACB_HUMAN	Y	178	ENSP00000341044:D178Y;ENSP00000367079:D178Y;ENSP00000367085:D178Y	ENSP00000341044:D178Y	D	+	1	0	ACACB	108062125	1.000000	0.71417	0.412000	0.26496	0.042000	0.13812	4.913000	0.63341	2.780000	0.95670	0.655000	0.94253	GAC		0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		58	20	1	0	1.06179e-41	0.00361	1.88914e-41	58	20				
MMAB	326625	broad.mit.edu	37	12	109999611	109999611	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:109999611C>G	ENST00000545712.2	-	5	788	c.395G>C	c.(394-396)tGc>tCc	p.C132S	MMAB_ENST00000540016.1_Missense_Mutation_p.C80S|MMAB_ENST00000266839.5_Missense_Mutation_p.C41S	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	132					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCGAGGAGCATGGTGTCGC	0.582																																							uc001tou.2		NA																	0					0						c.(394-396)TGC>TCC		cob(I)alamin adenosyltransferase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						38.0	36.0	37.0					12																	109999611		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109999611C>G	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.395G>C	12.37:g.109999611C>G	ENSP00000445920:p.Cys132Ser					MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.C41S|MMAB_uc001tox.2_Missense_Mutation_p.C80S	p.C132S	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			5	468	-			132					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.395G>C	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	9.445	1.088968	0.20390	.	.	ENSG00000139428	ENST00000545712;ENST00000266839;ENST00000542390	D;D	0.94613	-3.47;-3.47	5.56	2.47	0.30058	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.398802	0.27821	N	0.017709	T	0.74076	0.3669	N	0.00510	-1.415	0.09310	N	0.999994	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.68853	-0.5299	10	0.06757	T	0.87	-11.0729	4.3676	0.11232	0.2377:0.572:0.0:0.1903	.	41;132;132	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	S	132;41;132	ENSP00000445920:C132S;ENSP00000266839:C41S	ENSP00000266839:C41S	C	-	2	0	MMAB	108483994	0.783000	0.28701	0.926000	0.36857	0.573000	0.36030	0.591000	0.23969	1.341000	0.45600	0.655000	0.94253	TGC		0.582	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			3	1	0	0	0	0.004672	0	3	1				
TBX5	6910	broad.mit.edu	37	12	114823344	114823344	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:114823344G>T	ENST00000310346.4	-	7	1358	c.692C>A	c.(691-693)cCc>cAc	p.P231H	TBX5_ENST00000349716.5_Missense_Mutation_p.P181H|TBX5_ENST00000405440.2_Missense_Mutation_p.P231H|TBX5_ENST00000526441.1_Missense_Mutation_p.P231H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	231					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGGCAAAGGGATTATTCTC	0.453																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(691-693)CCC>CAC		T-box 5 isoform 1							134.0	115.0	121.0					12																	114823344		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823344G>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.692C>A	12.37:g.114823344G>T	ENSP00000309913:p.Pro231His					TBX5_uc001tvp.2_Missense_Mutation_p.P231H|TBX5_uc001tvq.2_Missense_Mutation_p.P181H|TBX5_uc010syv.1_Missense_Mutation_p.P231H	p.P231H	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1187	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		231			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.692C>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411377	0.83340	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.51	4.62	0.57501	p53-like transcription factor, DNA-binding (1);	0.051582	0.85682	D	0.000000	D	0.97346	0.9132	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98264	1.0500	10	0.87932	D	0	.	13.9657	0.64207	0.0726:0.0:0.9274:0.0	.	231;231	Q99593-2;Q99593	.;TBX5_HUMAN	H	181;231;128;231;231	ENSP00000337723:P181H;ENSP00000309913:P231H;ENSP00000384152:P231H;ENSP00000433292:P231H	ENSP00000309913:P231H	P	-	2	0	TBX5	113307727	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.363000	0.97131	1.328000	0.45358	0.563000	0.77884	CCC		0.453	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		32	13	1	0	4.39465e-27	0.002836	7.12426e-27	32	13				
TMEM120B	144404	broad.mit.edu	37	12	122188331	122188331	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:122188331C>T	ENST00000449592.2	+	4	452	c.351C>T	c.(349-351)ctC>ctT	p.L117L	TMEM120B_ENST00000540377.1_5'Flank	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	117						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGACCCTCCTCAGCAACCAGG	0.597																																							uc001ubc.3		NA																	0					0						c.(349-351)CTC>CTT		transmembrane protein 120B							158.0	175.0	170.0					12																	122188331		2088	4194	6282	SO:0001819	synonymous_variant	144404					integral to membrane		g.chr12:122188331C>T	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.351C>T	12.37:g.122188331C>T						TMEM120B_uc009zxh.2_Silent_p.L117L	p.L117L	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	4	495	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		117			Helical; (Potential).		A0PK01|B3KX33	Silent	SNP	ENST00000449592.2	37	c.351C>T	CCDS41852.1																																																																																				0.597	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		45	6	0	0	0	0.002522	0	45	6				
WDR66	144406	broad.mit.edu	37	12	122413223	122413223	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:122413223G>A	ENST00000288912.4	+	18	3699	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	949							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGGTGGCCGGGAAGGAAAATT	0.463																																					Esophageal Squamous(85;849 1794 49757 52143)	Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(2845-2847)GAA>AAA		WD repeat domain 66							82.0	86.0	85.0					12																	122413223		2046	4201	6247	SO:0001583	missense	144406						calcium ion binding	g.chr12:122413223G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2845G>A	12.37:g.122413223G>A	ENSP00000288912:p.Glu949Lys						p.E949K	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	18	2987	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		949					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2845G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066939	0.76301	.	.	ENSG00000158023	ENST00000288912	T	0.05996	3.36	5.41	5.41	0.78517	.	0.117908	0.56097	D	0.000025	T	0.11793	0.0287	L	0.51914	1.62	0.80722	D	1	P	0.37824	0.609	B	0.40864	0.342	T	0.01375	-1.1371	10	0.72032	D	0.01	.	19.1999	0.93708	0.0:0.0:1.0:0.0	.	949	Q8TBY9	WDR66_HUMAN	K	949	ENSP00000288912:E949K	ENSP00000288912:E949K	E	+	1	0	WDR66	120897606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.877000	0.69675	2.540000	0.85666	0.563000	0.77884	GAA		0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		21	21	0	0	0	0.002299	0	21	21				
FZD10	11211	broad.mit.edu	37	12	130647776	130647776	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:130647776G>C	ENST00000229030.4	+	1	773	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R64P			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	97	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GATGTGCACCGAGCAGGTCTC	0.652																																							uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(289-291)GAG>CAG		frizzled 10 precursor							56.0	54.0	55.0					12																	130647776		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647776G>C	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.289G>C	12.37:g.130647776G>C	ENSP00000229030:p.Glu97Gln					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.E97Q	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	745	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		97			FZ.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.289G>C	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.33|14.33	2.504266|2.504266	0.44558|0.44558	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.76968|.	-1.06|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Frizzled domain (5);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.75177|0.75177	0.3814|0.3814	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.65684|.	0.937|.	T|T	0.79006|0.79006	-0.1979|-0.1979	10|6	0.56958|0.87932	D|D	0.05|0	.|.	17.8579|17.8579	0.88771|0.88771	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	97|.	Q9ULW2|.	FZD10_HUMAN|.	Q|P	97|64	ENSP00000229030:E97Q|.	ENSP00000229030:E97Q|ENSP00000438460:R64P	E|R	+|+	1|2	0|0	FZD10|FZD10	129213729|129213729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.356000|9.356000	0.97091|0.97091	2.202000|2.202000	0.70862|0.70862	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.652	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	44	0	0	0	0.002096	0	32	44				
SFSWAP	6433	broad.mit.edu	37	12	132195869	132195869	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr12:132195869G>A	ENST00000261674.4	+	1	236	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R32Q	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	32					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGGGGCAGCCGAGTGGAGCTC	0.697																																							uc001uja.1		NA																	0					0						c.(94-96)CGA>CAA		splicing factor, arginine/serine-rich 8							35.0	47.0	43.0					12																	132195869		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132195869G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.95G>A	12.37:g.132195869G>A	ENSP00000261674:p.Arg32Gln					SFRS8_uc010tbn.1_Missense_Mutation_p.R32Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_5'UTR	p.R32Q	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	1	235	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		32					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.95G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740150	0.69304	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.09630	2.96;2.97	3.93	3.03	0.35002	.	0.533866	0.19051	N	0.124035	T	0.06962	0.0177	N	0.24115	0.695	0.33935	D	0.642498	B;B	0.19935	0.04;0.024	B;B	0.12837	0.008;0.003	T	0.22906	-1.0203	10	0.19147	T	0.46	-6.7622	10.0674	0.42313	0.0952:0.0:0.9048:0.0	.	32;32	F5H6B8;Q12872	.;SFSWA_HUMAN	Q	32	ENSP00000261674:R32Q;ENSP00000437738:R32Q	ENSP00000261674:R32Q	R	+	2	0	SFSWAP	130761822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.378000	0.59568	0.995000	0.38917	0.561000	0.74099	CGA		0.697	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		17	35	0	0	0	0.00499	0	17	35				
TPTE2	93492	broad.mit.edu	37	13	20038657	20038657	+	Missense_Mutation	SNP	C	C	A	rs568416507		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:20038657C>A	ENST00000400230.2	-	10	724	c.680G>T	c.(679-681)cGt>cTt	p.R227L	TPTE2_ENST00000390680.2_Missense_Mutation_p.R150L|TPTE2_ENST00000382975.4_Missense_Mutation_p.R187L|TPTE2_ENST00000457266.2_Missense_Mutation_p.R116L|TPTE2_ENST00000255310.6_Missense_Mutation_p.R150L|TPTE2_ENST00000400103.2_Missense_Mutation_p.R116L|TPTE2_ENST00000382977.4_Missense_Mutation_p.R227L|TPTE2_ENST00000382978.1_Missense_Mutation_p.R187L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	227	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGCAATAATACGTTCTGAAAG	0.299																																							uc001umd.2		NA																	0					0						c.(679-681)CGT>CTT		TPTE and PTEN homologous inositol lipid							87.0	83.0	84.0					13																	20038657		2203	4297	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20038657C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.680G>T	13.37:g.20038657C>A	ENSP00000383089:p.Arg227Leu					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R116L|TPTE2_uc001ume.2_Missense_Mutation_p.R150L|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.R227L	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	11	891	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	227			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.680G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	4.750	0.139501	0.09083	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	2.63	1.78	0.24846	Phosphatase tensin type (1);	0.186796	0.46442	D	0.000288	D	0.98105	0.9375	M	0.92784	3.345	0.45403	D	0.998382	B;P;P	0.45212	0.194;0.853;0.771	B;B;B	0.44278	0.201;0.445;0.366	D	0.96545	0.9403	9	.	.	.	-5.911	5.447	0.16541	0.0:0.839:0.0:0.161	.	116;150;227	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	L	187;116;227;150;150;227;187;116;227;96	ENSP00000372438:R187L;ENSP00000382974:R116L;ENSP00000383089:R227L;ENSP00000255310:R150L;ENSP00000375098:R150L;ENSP00000372437:R227L;ENSP00000372435:R187L;ENSP00000442218:R116L	.	R	-	2	0	TPTE2	18936657	0.314000	0.24563	0.198000	0.23420	0.007000	0.05969	1.963000	0.40452	0.666000	0.31087	-0.373000	0.07131	CGT		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		18	9	1	0	8.00594e-06	0.007413	8.79744e-06	18	9				
GJA3	2700	broad.mit.edu	37	13	20716932	20716932	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:20716932C>A	ENST00000241125.3	-	2	672	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	166					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AAGTACTGGCCGGCGATGAAG	0.652																																							uc001umx.1		NA																	0				pancreas(1)	1						c.(496-498)GGC>TGC		connexin 46							45.0	42.0	43.0					13																	20716932		2203	4300	6503	SO:0001583	missense	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716932C>A	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.496G>T	13.37:g.20716932C>A	ENSP00000241125:p.Gly166Cys						p.G166C	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	668	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	166			Helical; (Potential).		Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	c.496G>T	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903144	0.92035	.	.	ENSG00000121743	ENST00000241125	D	0.95918	-3.85	5.09	5.09	0.68999	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.99368	1.0919	10	0.87932	D	0	.	18.4911	0.90848	0.0:1.0:0.0:0.0	.	166	Q9Y6H8	CXA3_HUMAN	C	166	ENSP00000241125:G166C	ENSP00000241125:G166C	G	-	1	0	GJA3	19614932	1.000000	0.71417	0.930000	0.37139	0.995000	0.86356	7.715000	0.84713	2.382000	0.81193	0.555000	0.69702	GGC		0.652	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		19	10	1	0	1.67942e-08	0.006122	1.97446e-08	19	10				
SACS	26278	broad.mit.edu	37	13	23905743	23905743	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:23905743G>C	ENST00000382292.3	-	9	12545	c.12272C>G	c.(12271-12273)tCa>tGa	p.S4091*	SACS_ENST00000382298.3_Nonsense_Mutation_p.S4091*|SACS_ENST00000402364.1_Nonsense_Mutation_p.S3341*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4091					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTACTGTCTGAATGTTGAAT	0.343																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(12271-12273)TCA>TGA		sacsin							88.0	83.0	85.0					13																	23905743		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905743G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12272C>G	13.37:g.23905743G>C	ENSP00000371729:p.Ser4091*					SACS_uc001uoo.2_Nonsense_Mutation_p.S3944*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S4091*	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12861	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4091					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.12272C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	58	33.907620	0.99981	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9676	0.92702	0.0:0.0:1.0:0.0	.	.	.	.	X	4091;3341;4091	.	ENSP00000371729:S4091X	S	-	2	0	SACS	22803743	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.785000	0.99042	2.462000	0.83206	0.655000	0.94253	TCA		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		22	3	0	0	0	0.001882	0	22	3				
ATP12A	479	broad.mit.edu	37	13	25274899	25274899	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:25274899T>C	ENST00000381946.3	+	13	1887	c.1720T>C	c.(1720-1722)Tac>Cac	p.Y574H	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y580H|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	574					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CTGTCATCTCTACCTGCCAGC	0.408																																					Pancreas(156;1582 1935 18898 22665 26498)	Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1720-1722)TAC>CAC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						99.0	92.0	94.0					13																	25274899		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25274899T>C	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1720T>C	13.37:g.25274899T>C	ENSP00000371372:p.Tyr574His					ATP12A_uc010aaa.2_Missense_Mutation_p.Y580H	p.Y574H	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	13	1907	+		Lung SC(185;0.0225)|Breast(139;0.077)	574			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1720T>C	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.105834	0.56291	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79141	-1.24;-1.24	6.17	6.17	0.99709	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000001	T	0.77909	0.4201	N	0.13299	0.325	0.45097	D	0.99811	B;D	0.76494	0.159;0.999	B;D	0.91635	0.303;0.999	T	0.75720	-0.3219	10	0.21014	T	0.42	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	580;574	P54707-2;P54707	.;AT12A_HUMAN	H	580;574	ENSP00000218548:Y580H;ENSP00000371372:Y574H	ENSP00000218548:Y580H	Y	+	1	0	ATP12A	24172899	0.991000	0.36638	1.000000	0.80357	0.820000	0.46376	1.993000	0.40747	2.371000	0.80710	0.533000	0.62120	TAC		0.408	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		12	7	0	0	0	0.001368	0	12	7				
CENPJ	55835	broad.mit.edu	37	13	25480995	25480995	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:25480995T>A	ENST00000381884.4	-	7	1366	c.1181A>T	c.(1180-1182)aAa>aTa	p.K394I	CENPJ_ENST00000545981.1_Missense_Mutation_p.K394I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	394					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCTTTGCCTTTTTGAAACTT	0.403																																							uc001upt.3		NA																	0				ovary(2)	2						c.(1180-1182)AAA>ATA		centromere protein J							75.0	72.0	73.0					13																	25480995		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480995T>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1181A>T	13.37:g.25480995T>A	ENSP00000371308:p.Lys394Ile					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	p.K394I	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1434	-		Lung SC(185;0.0225)|Breast(139;0.0602)	394					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1181A>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154366	0.57259	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.19806	2.12;2.12	5.64	3.25	0.37280	.	0.178724	0.46758	D	0.000273	T	0.33381	0.0861	M	0.76574	2.34	0.09310	N	0.999997	D	0.59767	0.986	P	0.56700	0.804	T	0.18147	-1.0346	10	0.72032	D	0.01	.	4.2967	0.10904	0.1486:0.1601:0.0:0.6913	.	394	Q9HC77	CENPJ_HUMAN	I	394	ENSP00000371308:K394I;ENSP00000441090:K394I	ENSP00000371308:K394I	K	-	2	0	CENPJ	24378995	0.985000	0.35326	1.000000	0.80357	0.966000	0.64601	1.966000	0.40481	0.974000	0.38366	0.533000	0.62120	AAA		0.403	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		16	4	0	0	0	0.004007	0	16	4				
AMER2	219287	broad.mit.edu	37	13	25744644	25744644	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:25744644G>T	ENST00000515384.1	-	1	1781	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	AMER2_ENST00000357816.2_Intron|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Intron			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	372					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										AAGCTTTTCAGTGAAGTCACG	0.572																																							uc001uqb.2		NA																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1114-1116)CTG>ATG		hypothetical protein LOC219287 isoform 1							45.0	54.0	51.0					13																	25744644		2183	4289	6472	SO:0001583	missense	219287							g.chr13:25744644G>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1114C>A	13.37:g.25744644G>T	ENSP00000426528:p.Leu372Met					FAM123A_uc001uqa.2_Intron|FAM123A_uc001uqc.2_Intron	p.L372M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1214	-		Lung SC(185;0.0225)|Breast(139;0.0602)	372					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1114C>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766379	0.69878	.	.	ENSG00000165566	ENST00000515384	T	0.50001	0.76	3.84	3.84	0.44239	.	.	.	.	.	T	0.63698	0.2533	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65253	-0.6213	9	0.45353	T	0.12	.	14.9416	0.70997	0.0:0.0:1.0:0.0	.	372	Q8N7J2	F123A_HUMAN	M	372	ENSP00000426528:L372M	ENSP00000426528:L372M	L	-	1	2	FAM123A	24642644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.300000	0.59079	1.988000	0.58038	0.561000	0.74099	CTG		0.572	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		13	4	1	0	0.000422831	0.004007	0.000446373	13	4				
PAN3	255967	broad.mit.edu	37	13	28835536	28835536	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:28835536A>G	ENST00000380958.3	+	9	1505		c.e9-1		PAN3_ENST00000399613.1_Splice_Site|PAN3_ENST00000282391.5_Splice_Site	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTTGTTTCATAGGAGCTGATC	0.294																																							uc001urz.2		NA																	0				ovary(1)	1						c.e8-2		PABP1-dependent poly A-specific ribonuclease							43.0	46.0	45.0					13																	28835536		2202	4299	6501	SO:0001630	splice_region_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28835536A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1354-1A>G	13.37:g.28835536A>G						PAN3_uc010tdo.1_Splice_Site_p.E452_splice|PAN3_uc001ury.2_Splice_Site_p.E140_splice|PAN3_uc001urx.2_Splice_Site_p.E252_splice	p.E306_splice	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	8	924	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)							Splice_Site	SNP	ENST00000380958.3	37	c.916_splice	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353097	0.41700	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	2.94	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5574	0.39348	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAN3	27733536	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	8.878000	0.92393	1.284000	0.44531	0.477000	0.44152	.		0.294	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	Intron	11	3	0	0	0	0.000978	0	11	3				
HSPH1	10808	broad.mit.edu	37	13	31724221	31724221	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:31724221C>A	ENST00000320027.5	-	8	1351	c.1007G>T	c.(1006-1008)aGt>aTt	p.S336I	HSPH1_ENST00000380406.5_Missense_Mutation_p.S295I|HSPH1_ENST00000429785.2_Missense_Mutation_p.S155I|HSPH1_ENST00000380405.4_Missense_Mutation_p.S336I|HSPH1_ENST00000445273.2_Missense_Mutation_p.S338I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	336					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTCAACTGCACTCACATCTTC	0.398																																							uc001utj.2		NA																	0					0						c.(1006-1008)AGT>ATT		heat shock 105kD							141.0	138.0	139.0					13																	31724221		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724221C>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1007G>T	13.37:g.31724221C>A	ENSP00000318687:p.Ser336Ile					HSPH1_uc001utk.2_Missense_Mutation_p.S336I|HSPH1_uc010aaw.2_Missense_Mutation_p.S295I|HSPH1_uc001utl.2_Missense_Mutation_p.S338I|HSPH1_uc010tds.1_Missense_Mutation_p.S260I|HSPH1_uc010tdt.1_RNA	p.S336I	NM_006644	NP_006635	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1405	-		Lung SC(185;0.0257)	336					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1007G>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824131	0.32237	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.68	4.84	0.62591	.	0.165275	0.51477	D	0.000081	T	0.37812	0.1017	M	0.75447	2.3	0.35647	D	0.811477	P;B;P;B;P	0.41188	0.741;0.257;0.741;0.257;0.607	P;B;P;B;B	0.45610	0.487;0.187;0.487;0.142;0.392	T	0.54268	-0.8319	10	0.72032	D	0.01	-13.402	5.6044	0.17371	0.0:0.5205:0.2837:0.1957	.	155;295;338;336;336	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	I	336;336;295;338;155;387	ENSP00000318687:S336I;ENSP00000369768:S336I;ENSP00000369769:S295I;ENSP00000396090:S338I;ENSP00000388778:S155I	ENSP00000318687:S336I	S	-	2	0	HSPH1	30622221	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	1.272000	0.33109	1.407000	0.46875	-0.218000	0.12543	AGT		0.398	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			21	15	1	0	0.00121646	0.008871	0.00126827	21	15				
RXFP2	122042	broad.mit.edu	37	13	32356837	32356837	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:32356837T>C	ENST00000298386.2	+	11	953	c.882T>C	c.(880-882)ggT>ggC	p.G294G	RXFP2_ENST00000380314.1_Intron	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATCAAATTGGTTTTGTTCCAG	0.388																																							uc001utt.2		NA																	0					0						c.(880-882)GGT>GGC		relaxin/insulin-like family peptide receptor 2							81.0	79.0	80.0					13																	32356837		2203	4300	6503	SO:0001819	synonymous_variant	122042					integral to membrane|plasma membrane		g.chr13:32356837T>C	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.882T>C	13.37:g.32356837T>C						RXFP2_uc010aba.2_Intron	p.G294G	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	11	953	+		Lung SC(185;0.0262)	294			LRR 7.|Extracellular (Potential).		B1ALE9|Q3KU23	Silent	SNP	ENST00000298386.2	37	c.882T>C	CCDS9342.1																																																																																				0.388	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		21	9	0	0	0	0.003954	0	21	9				
FRY	10129	broad.mit.edu	37	13	32802711	32802711	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:32802711G>T	ENST00000380250.3	+	40	5821	c.5325G>T	c.(5323-5325)atG>atT	p.M1775I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1775						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCCACAGATGACCCAGGAGG	0.532																																							uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(5323-5325)ATG>ATT		furry homolog							114.0	114.0	114.0					13																	32802711		1952	4173	6125	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32802711G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5325G>T	13.37:g.32802711G>T	ENSP00000369600:p.Met1775Ile					FRY_uc010tdw.1_RNA	p.M1775I	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	40	5821	+		Lung SC(185;0.0271)	1775					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5325G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353793	0.24512	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.20200	2.09	6.02	5.16	0.70880	.	0.046038	0.85682	D	0.000000	T	0.09862	0.0242	N	0.05383	-0.06	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25467	-1.0131	10	0.20046	T	0.44	.	9.0767	0.36527	0.0:0.3336:0.5346:0.1317	.	1775	Q5TBA9	FRY_HUMAN	I	1775;612	ENSP00000369600:M1775I	ENSP00000369600:M1775I	M	+	3	0	FRY	31700711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.186000	0.32078	2.857000	0.98124	0.650000	0.86243	ATG		0.532	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		49	17	1	0	3.77016e-25	0.003214	5.98644e-25	49	17				
PDS5B	23047	broad.mit.edu	37	13	33344486	33344486	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:33344486G>T	ENST00000315596.10	+	32	4038	c.3852G>T	c.(3850-3852)ccG>ccT	p.P1284P		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1284					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAATAGTCCGCCAAAAAAGG	0.408																																							uc010abf.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(3850-3852)CCG>CCT		PDS5, regulator of cohesion maintenance, homolog							57.0	57.0	57.0					13																	33344486		1845	4084	5929	SO:0001819	synonymous_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344486G>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3852G>T	13.37:g.33344486G>T						PDS5B_uc010abg.2_RNA	p.P1284P	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	32	4010	+		Lung SC(185;0.0367)	1284					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.3852G>T	CCDS41878.1																																																																																				0.408	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		12	2	1	0	1.08611e-07	0.000978	1.2533e-07	12	2				
POSTN	10631	broad.mit.edu	37	13	38153997	38153997	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:38153997C>A	ENST00000379747.4	-	12	1778		c.e12+1		POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCACTTACGTATCAGAAT	0.403																																							uc001uwo.3		NA																	0				ovary(2)	2						c.e12+1		periostin, osteoblast specific factor isoform 1							111.0	107.0	109.0					13																	38153997		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38153997C>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1660+1G>T	13.37:g.38153997C>A						POSTN_uc010tet.1_Splice_Site_p.R82_splice|POSTN_uc001uwp.3_Splice_Site_p.R554_splice|POSTN_uc001uwr.2_Splice_Site_p.R554_splice|POSTN_uc001uwq.2_Splice_Site_p.R554_splice|POSTN_uc010teu.1_Splice_Site_p.R554_splice|POSTN_uc010tev.1_Splice_Site_p.R554_splice|POSTN_uc010tew.1_Splice_Site_p.R554_splice|POSTN_uc010tex.1_Splice_Site_p.R469_splice	p.R554_splice	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	12	1778	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37	c.1660_splice	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984701	0.35036	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5696	0.95406	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37051997	1.000000	0.71417	0.944000	0.38274	0.201000	0.24016	5.060000	0.64312	2.700000	0.92200	0.591000	0.81541	.		0.403	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	10	4	1	0	0.000673444	0.008291	0.000705548	10	4				
POSTN	10631	broad.mit.edu	37	13	38161012	38161012	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:38161012A>T	ENST00000379747.4	-	6	777	c.660T>A	c.(658-660)aaT>aaA	p.N220K	POSTN_ENST00000379749.4_Missense_Mutation_p.N220K|POSTN_ENST00000379743.4_Missense_Mutation_p.N220K|POSTN_ENST00000379742.4_Missense_Mutation_p.N220K|POSTN_ENST00000541481.1_Missense_Mutation_p.N220K|POSTN_ENST00000541179.1_Missense_Mutation_p.N220K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	220	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGACAACACCATTTGTTGCAA	0.383																																							uc001uwo.3		NA																	0				ovary(2)	2						c.(658-660)AAT>AAA		periostin, osteoblast specific factor isoform 1							163.0	135.0	144.0					13																	38161012		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38161012A>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.660T>A	13.37:g.38161012A>T	ENSP00000369071:p.Asn220Lys					POSTN_uc001uwp.3_Missense_Mutation_p.N220K|POSTN_uc001uwr.2_Missense_Mutation_p.N220K|POSTN_uc001uwq.2_Missense_Mutation_p.N220K|POSTN_uc010teu.1_Missense_Mutation_p.N220K|POSTN_uc010tev.1_Missense_Mutation_p.N220K|POSTN_uc010tew.1_Missense_Mutation_p.N220K|POSTN_uc010tex.1_Missense_Mutation_p.N135K	p.N220K	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	6	778	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	220			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.660T>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969863	0.74246	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.56	1.78	0.24846	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.97914	0.9314	H	0.97983	4.12	0.48087	D	0.999586	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.997;1.0;0.997;0.993;0.999;1.0	D	0.96424	0.9314	10	0.66056	D	0.02	.	9.1349	0.36868	0.791:0.0:0.209:0.0	.	220;220;220;220;220;220;220	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	K	220;220;220;220;220;220;137	ENSP00000437959:N220K;ENSP00000369073:N220K;ENSP00000369071:N220K;ENSP00000369067:N220K;ENSP00000369066:N220K;ENSP00000437953:N220K	ENSP00000369066:N220K	N	-	3	2	POSTN	37059012	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.371000	0.44248	0.137000	0.18759	0.460000	0.39030	AAT		0.383	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		16	7	0	0	0	0.004007	0	16	7				
COG6	57511	broad.mit.edu	37	13	40293944	40293944	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:40293944C>A	ENST00000455146.3	+	15	1614	c.1564C>A	c.(1564-1566)Ctg>Atg	p.L522M	COG6_ENST00000416691.1_Missense_Mutation_p.L522M	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	522					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TGACAGACGTCTGGAAATGCT	0.343																																							uc001uxh.2		NA																	0				kidney(1)|skin(1)	2						c.(1564-1566)CTG>ATG		component of oligomeric golgi complex 6 isoform							75.0	72.0	73.0					13																	40293944		2203	4300	6503	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40293944C>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1564C>A	13.37:g.40293944C>A	ENSP00000397441:p.Leu522Met					COG6_uc001uxi.2_Missense_Mutation_p.L470M|COG6_uc010acb.2_Missense_Mutation_p.L522M	p.L522M	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	15	1664	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	522					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1564C>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869229	0.72065	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.58940	0.3;0.3	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	M	0.83384	2.64	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.988	T	0.80289	-0.1445	10	0.54805	T	0.06	-16.7169	18.4328	0.90632	0.0:1.0:0.0:0.0	.	543;522	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	M	522;553;522	ENSP00000403733:L522M;ENSP00000397441:L522M	ENSP00000255468:L553M	L	+	1	2	COG6	39191944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.447000	0.60020	2.661000	0.90470	0.655000	0.94253	CTG		0.343	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			16	5	1	0	3.52763e-06	0.00499	3.90747e-06	16	5				
VWA8	23078	broad.mit.edu	37	13	42393467	42393467	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:42393467C>A	ENST00000379310.3	-	15	1824	c.1756G>T	c.(1756-1758)Gtt>Ttt	p.V586F	VWA8_ENST00000281496.6_Missense_Mutation_p.V586F	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	586						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTTCCAATAACAGGGGGTTCT	0.373																																							uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(1756-1758)GTT>TTT		hypothetical protein LOC23078 isoform a							64.0	70.0	68.0					13																	42393467		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42393467C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1756G>T	13.37:g.42393467C>A	ENSP00000368612:p.Val586Phe					KIAA0564_uc001uyk.2_Missense_Mutation_p.V586F	p.V586F	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	15	1826	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	586					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1756G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163130	0.78226	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.54479	0.57;0.57	5.57	4.72	0.59763	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.194352	0.43919	D	0.000511	T	0.61937	0.2387	L	0.46157	1.445	0.58432	D	0.999998	D	0.53745	0.962	P	0.60789	0.879	T	0.58989	-0.7538	10	0.31617	T	0.26	.	14.5373	0.67969	0.0:0.9279:0.0:0.0721	.	586	A3KMH1	K0564_HUMAN	F	490;586;586	ENSP00000368612:V586F;ENSP00000281496:V586F	ENSP00000251030:V490F	V	-	1	0	KIAA0564	41291467	0.992000	0.36948	0.761000	0.31378	0.958000	0.62258	3.121000	0.50438	1.334000	0.45468	0.655000	0.94253	GTT		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		15	8	1	0	2.23348e-06	0.004007	2.47965e-06	15	8				
CAB39L	81617	broad.mit.edu	37	13	49906179	49906179	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:49906179T>A	ENST00000355854.4	-	8	1235	c.738A>T	c.(736-738)acA>acT	p.T246T	CAB39L_ENST00000410043.1_Silent_p.T246T|CAB39L_ENST00000409130.1_Silent_p.T102T|CAB39L_ENST00000347776.5_Silent_p.T246T|CAB39L_ENST00000409308.1_Silent_p.T246T	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	246					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGATATACTTTGTCATGATGG	0.438																																							uc001vcw.2		NA																	0					0						c.(736-738)ACA>ACT		calcium binding protein 39-like							167.0	153.0	158.0					13																	49906179		2203	4300	6503	SO:0001819	synonymous_variant	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49906179T>A	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.738A>T	13.37:g.49906179T>A						CAB39L_uc001vcx.2_Silent_p.T246T|CAB39L_uc010adf.2_Silent_p.T243T	p.T246T	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	8	1236	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	246					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	ENST00000355854.4	37	c.738A>T	CCDS9416.2																																																																																				0.438	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		72	57	0	0	0	0.00361	0	72	57				
RCBTB1	55213	broad.mit.edu	37	13	50108290	50108290	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:50108290T>G	ENST00000378302.2	-	13	1824	c.1564A>C	c.(1564-1566)Aaa>Caa	p.K522Q	RCBTB1_ENST00000258646.3_Missense_Mutation_p.K522Q|RCBTB1_ENST00000471984.1_5'UTR	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	522					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TTACTGGCTTTAGCAATGAAT	0.453																																							uc001vde.1		NA																	0				ovary(1)	1						c.(1564-1566)AAA>CAA		regulator of chromosome condensation (RCC1) and							152.0	146.0	148.0					13																	50108290		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50108290T>G	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1564A>C	13.37:g.50108290T>G	ENSP00000367552:p.Lys522Gln						p.K522Q	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	13	1825	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	522					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.1564A>C	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674811	0.47781	.	.	ENSG00000136144	ENST00000258646;ENST00000378302	T;T	0.39229	1.09;1.09	5.87	4.68	0.58851	.	0.043539	0.85682	D	0.000000	T	0.50360	0.1611	M	0.64567	1.98	0.35224	D	0.77628	D	0.54964	0.969	P	0.51193	0.662	T	0.64795	-0.6323	10	0.54805	T	0.06	-19.2418	12.7156	0.57113	0.1234:0.0:0.0:0.8766	.	522	Q8NDN9	RCBT1_HUMAN	Q	522	ENSP00000258646:K522Q;ENSP00000367552:K522Q	ENSP00000258646:K522Q	K	-	1	0	RCBTB1	49006291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.964000	0.56780	1.131000	0.42111	0.533000	0.62120	AAA		0.453	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		33	80	0	0	0	0.002836	0	33	80				
DHRS12	79758	broad.mit.edu	37	13	52351249	52351249	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:52351249T>C	ENST00000444610.2	-	6	470	c.457A>G	c.(457-459)Att>Gtt	p.I153V	DHRS12_ENST00000280056.2_Missense_Mutation_p.I104V|DHRS12_ENST00000218981.1_Missense_Mutation_p.I104V|DHRS12_ENST00000490949.1_5'UTR	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	153							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GTCGTGAGAATGTACACACCT	0.572																																							uc001vfq.2		NA																	0					0						c.(457-459)ATT>GTT		RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;							94.0	85.0	88.0					13																	52351249		2203	4300	6503	SO:0001583	missense	79758						binding|oxidoreductase activity	g.chr13:52351249T>C	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.457A>G	13.37:g.52351249T>C	ENSP00000411565:p.Ile153Val					DHRS12_uc001vfr.1_Missense_Mutation_p.I104V|DHRS12_uc001vfs.1_Missense_Mutation_p.I104V	p.I153V			A0PJE2	DHR12_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	6	505	-		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)	153					Q96GB2|Q9H8H1	Missense_Mutation	SNP	ENST00000444610.2	37	c.457A>G	CCDS58292.1	.	.	.	.	.	.	.	.	.	.	T	4.560	0.103934	0.08731	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	D;D;D	0.86627	-2.15;-2.15;-2.15	3.43	-5.54	0.02544	NAD(P)-binding domain (1);	0.522365	0.19358	N	0.116235	T	0.65207	0.2669	N	0.11064	0.09	0.18873	N	0.999989	B;B;B	0.27416	0.178;0.013;0.002	B;B;B	0.26517	0.07;0.009;0.013	T	0.55780	-0.8087	10	0.48119	T	0.1	.	1.9923	0.03449	0.1335:0.3913:0.1549:0.3203	.	104;104;153	A0PJE2-3;A0PJE2-2;A0PJE2	.;.;DHR12_HUMAN	V	153;104;104	ENSP00000411565:I153V;ENSP00000218981:I104V;ENSP00000280056:I104V	ENSP00000218981:I104V	I	-	1	0	DHRS12	51249250	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.022000	0.12480	-1.028000	0.03321	-0.417000	0.06048	ATT		0.572	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		29	24	0	0	0	0.008361	0	29	24				
OLFM4	10562	broad.mit.edu	37	13	53616220	53616220	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:53616220G>T	ENST00000219022.2	+	3	611	c.533G>T	c.(532-534)gGt>gTt	p.G178V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	178					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.G178V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GAGAGTTTTGGTGGAAGCTCA	0.428																																							uc001vhl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(532-534)GGT>GTT		olfactomedin 4 precursor							100.0	89.0	93.0					13																	53616220		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53616220G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.533G>T	13.37:g.53616220G>T	ENSP00000219022:p.Gly178Val					OLFM4_uc001vhk.1_Intron	p.G178V	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	3	533	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	178			Potential.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.533G>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925788	0.18056	.	.	ENSG00000102837	ENST00000219022	D	0.89746	-2.56	5.71	-2.19	0.07015	.	0.822085	0.11173	N	0.591786	T	0.59715	0.2214	N	0.00823	-1.155	0.24027	N	0.996128	B	0.02656	0.0	B	0.04013	0.001	T	0.57254	-0.7843	9	.	.	.	.	1.0089	0.01493	0.224:0.2131:0.1101:0.4529	.	178	Q6UX06	OLFM4_HUMAN	V	178	ENSP00000219022:G178V	.	G	+	2	0	OLFM4	52514221	0.055000	0.20627	0.772000	0.31596	0.809000	0.45718	-0.005000	0.12855	-0.115000	0.11915	-0.262000	0.10625	GGT		0.428	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		5	5	1	0	0.000602214	0.000602	0.000632636	5	5				
PCDH17	27253	broad.mit.edu	37	13	58208476	58208476	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:58208476G>C	ENST00000377918.3	+	1	1822	c.1796G>C	c.(1795-1797)cGc>cCc	p.R599P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGGTGCCGCGCAACGCTGGC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1795-1797)CGC>CCC		protocadherin 17 precursor							30.0	29.0	29.0					13																	58208476		2202	4299	6501	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208476G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1796G>C	13.37:g.58208476G>C	ENSP00000367151:p.Arg599Pro					PCDH17_uc010aec.1_Missense_Mutation_p.R599P	p.R599P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2688	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	599			Extracellular (Potential).|Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1796G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573943	0.65765	.	.	ENSG00000118946	ENST00000377918	T	0.51325	0.71	5.36	5.36	0.76844	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.64300	-0.6440	9	.	.	.	.	19.0883	0.93215	0.0:0.0:1.0:0.0	.	599;599	O14917-2;O14917	.;PCD17_HUMAN	P	599	ENSP00000367151:R599P	.	R	+	2	0	PCDH17	57106477	1.000000	0.71417	0.998000	0.56505	0.701000	0.40568	9.869000	0.99810	2.500000	0.84329	0.561000	0.74099	CGC		0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		13	5	0	0	0	0.00245	0	13	5				
DIAPH3	81624	broad.mit.edu	37	13	60590082	60590082	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:60590082C>A	ENST00000400324.4	-	7	956	c.736G>T	c.(736-738)Gtc>Ttc	p.V246F	DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V235F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V246F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V246F|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V176F|DIAPH3_ENST00000465066.1_5'Flank|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V200F|DIAPH3-AS1_ENST00000422052.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	246	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CACTGTATGACTTTATGTTGA	0.313																																							uc001vht.2		NA																	0				ovary(2)	2						c.(736-738)GTC>TTC		diaphanous homolog 3 isoform a							202.0	173.0	182.0					13																	60590082		1827	4074	5901	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60590082C>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.736G>T	13.37:g.60590082C>A	ENSP00000383178:p.Val246Phe					DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.V235F|DIAPH3_uc010aed.1_Missense_Mutation_p.V200F|DIAPH3_uc010aee.1_Missense_Mutation_p.V176F|uc001vhx.2_Intron|uc001vhy.2_Intron	p.V246F	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	7	955	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	246			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.736G>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478236	0.63849	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.93	5.09	0.68999	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.060115	0.64402	D	0.000003	D	0.93677	0.7980	M	0.72118	2.19	0.42120	D	0.991428	D;D;D;D	0.71674	0.993;0.998;0.998;0.994	D;D;D;D	0.71414	0.928;0.973;0.973;0.944	D	0.93636	0.6960	10	0.62326	D	0.03	.	9.1907	0.37197	0.0:0.7822:0.0:0.2178	.	176;200;235;246	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	F	246;246;235;200;176;235;176;200;246;246	ENSP00000383178:V246F;ENSP00000383184:V246F;ENSP00000367141:V235F;ENSP00000383173:V176F;ENSP00000383174:V200F;ENSP00000267215:V246F	ENSP00000267215:V246F	V	-	1	0	DIAPH3	59488083	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.017000	0.29989	1.529000	0.49120	0.655000	0.94253	GTC		0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		9	2	1	0	1.08611e-07	0.000978	1.2533e-07	9	2				
PCDH20	64881	broad.mit.edu	37	13	61986284	61986284	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:61986284C>T	ENST00000409186.1	-	5	4053	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E650K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	650	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGAAAGTTTTCAGGCACAAAA	0.478																																							uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1948-1950)GAA>AAA		protocadherin 20							96.0	93.0	94.0					13																	61986284		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986284C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1948G>A	13.37:g.61986284C>T	ENSP00000386653:p.Glu650Lys					PCDH20_uc010thj.1_Missense_Mutation_p.E650K	p.E650K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2312	-		Breast(118;0.195)|Prostate(109;0.229)	623			Cadherin 5.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1948G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447959	0.84101	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.76316	-1.01;-1.01	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000006	D	0.93546	0.7940	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95299	0.8402	10	0.87932	D	0	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	650	A8K1K9	.	K	650;650;396	ENSP00000387250:E650K;ENSP00000386653:E650K	ENSP00000351500:E396K	E	-	1	0	PCDH20	60884285	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.745000	0.85046	2.812000	0.96745	0.557000	0.71058	GAA		0.478	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		23	10	0	0	0	0.00333	0	23	10				
PCDH9	5101	broad.mit.edu	37	13	67801402	67801402	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:67801402T>A	ENST00000377865.2	-	1	1305	c.1171A>T	c.(1171-1173)Aag>Tag	p.K391*	PCDH9_ENST00000377861.3_Nonsense_Mutation_p.K391*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.K391*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.K391*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.K391*			Q9HC56	PCDH9_HUMAN	protocadherin 9	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTGTGTCCTTATCTGAAACT	0.378																																							uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1171-1173)AAG>TAG		protocadherin 9 isoform 1 precursor							120.0	115.0	117.0					13																	67801402		2203	4300	6503	SO:0001587	stop_gained	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801402T>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1171A>T	13.37:g.67801402T>A	ENSP00000367096:p.Lys391*					PCDH9_uc001vil.2_Nonsense_Mutation_p.K391*|PCDH9_uc010thl.1_Nonsense_Mutation_p.K391*|PCDH9_uc001vin.3_Nonsense_Mutation_p.K391*	p.K391*	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1863	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	391			Extracellular (Potential).|Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonsense_Mutation	SNP	ENST00000377865.2	37	c.1171A>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.923231	0.92319	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	X	391	.	ENSP00000332060:K391X	K	-	1	0	PCDH9	66699403	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.186000	0.72026	2.371000	0.80710	0.533000	0.62120	AAG		0.378	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		54	42	0	0	0	0.00361	0	54	42				
DACH1	1602	broad.mit.edu	37	13	72440789	72440789	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:72440789G>T	ENST00000359684.2	-	1	118	c.119C>A	c.(118-120)cCg>cAg	p.P40Q	DACH1_ENST00000354591.4_Missense_Mutation_p.P40Q|DACH1_ENST00000313174.7_Missense_Mutation_p.P40Q|DACH1_ENST00000305425.4_Missense_Mutation_p.P40Q			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	40					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGAAGGAGCCGGAGACGAAGT	0.682																																							uc010thn.1		NA																	0				breast(1)	1						c.(118-120)CCG>CAG		dachshund homolog 1 isoform a							20.0	27.0	24.0					13																	72440789		1946	4128	6074	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72440789G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.119C>A	13.37:g.72440789G>T	ENSP00000352712:p.Pro40Gln					DACH1_uc010tho.1_Missense_Mutation_p.P40Q|DACH1_uc010thp.1_Missense_Mutation_p.P40Q	p.P40Q	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	1	542	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	40					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.119C>A		.	.	.	.	.	.	.	.	.	.	G	10.93	1.489951	0.26686	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.38887	1.16;1.11;1.2;1.33	3.22	2.37	0.29283	.	1.107880	0.07035	U	0.829140	T	0.48059	0.1479	N	0.24115	0.695	0.34710	D	0.727632	D;D;D	0.63880	0.993;0.993;0.98	P;P;P	0.62184	0.899;0.899;0.498	T	0.49916	-0.8888	10	0.59425	D	0.04	-4.1099	10.188	0.43009	0.1014:0.0:0.8986:0.0	.	40;40;40	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	Q	40	ENSP00000304994:P40Q;ENSP00000318506:P40Q;ENSP00000346604:P40Q;ENSP00000352712:P40Q	ENSP00000304994:P40Q	P	-	2	0	DACH1	71338790	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.789000	0.62446	0.538000	0.28769	-0.379000	0.06801	CCG		0.682	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		8	14	1	0	5.18039e-06	0.00308	5.70876e-06	8	14				
CTAGE11P	647288	broad.mit.edu	37	13	75814255	75814255	+	IGR	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:75814255T>C								AL162571.1 (31082 upstream) : LINC01078 (10360 downstream)																							GTTTTTTCTCTCTTCCCACAT	0.368																																							uc010ths.1		NA																	0					0						c.(220-222)AGA>AGG		Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).																																				SO:0001628	intergenic_variant	647288							g.chr13:75814255T>C																													13.37:g.75814255T>C							p.R74R	NR_027466						1	263	-									Silent	SNP		37	c.222A>G																																																																																				0	0.368									28	83	0	0	0	0.005443	0	28	83				
CLN5	1203	broad.mit.edu	37	13	77569290	77569290	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:77569290A>G	ENST00000377453.3	+	2	1705	c.413A>G	c.(412-414)gAt>gGt	p.D138G	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	89					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ATGGAGGGTGATGATGACATT	0.418																																							uc001vkc.2		NA																	0				ovary(1)	1						c.(412-414)GAT>GGT		ceroid-lipofuscinosis, neuronal 5							162.0	160.0	161.0					13																	77569290		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77569290A>G		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.413A>G	13.37:g.77569290A>G	ENSP00000366673:p.Asp138Gly						p.D138G	NM_006493	NP_006484	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	2	441	+		Acute lymphoblastic leukemia(28;0.205)	89					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.413A>G	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907950	0.52333	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.88354	-2.37	5.84	5.84	0.93424	.	0.583629	0.21765	N	0.069457	D	0.88138	0.6356	L	0.60455	1.87	0.42086	D	0.991276	B	0.28933	0.228	B	0.30855	0.121	D	0.86937	0.2077	10	0.66056	D	0.02	-6.9188	16.2235	0.82274	1.0:0.0:0.0:0.0	.	89	O75503	CLN5_HUMAN	G	138;89;4	ENSP00000366673:D138G	ENSP00000366673:D138G	D	+	2	0	CLN5	76467291	0.927000	0.31430	0.905000	0.35620	0.937000	0.57800	4.582000	0.60957	2.241000	0.73720	0.533000	0.62120	GAT		0.418	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		24	58	0	0	0	0.00278	0	24	58				
SLITRK1	114798	broad.mit.edu	37	13	84453925	84453925	+	Missense_Mutation	SNP	G	G	T	rs533449273		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:84453925G>T	ENST00000377084.2	-	1	2603	c.1718C>A	c.(1717-1719)tCc>tAc	p.S573Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	573	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTCGTCATTGGAGAGGAGCAT	0.542																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1717-1719)TCC>TAC		slit and trk like 1 protein precursor							82.0	71.0	75.0					13																	84453925		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453925G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1718C>A	13.37:g.84453925G>T	ENSP00000366288:p.Ser573Tyr						p.S573Y	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2604	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	573			LRRCT 2.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1718C>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770774	0.49680	.	.	ENSG00000178235	ENST00000377084	T	0.55052	0.54	5.22	5.22	0.72569	Cysteine-rich flanking region, C-terminal (1);	0.187607	0.48767	D	0.000170	T	0.55401	0.1918	L	0.55213	1.73	0.53688	D	0.999973	P	0.40660	0.726	B	0.42738	0.396	T	0.60525	-0.7246	10	0.66056	D	0.02	-6.9133	17.693	0.88273	0.0:0.0:1.0:0.0	.	573	Q96PX8	SLIK1_HUMAN	Y	573	ENSP00000366288:S573Y	ENSP00000366288:S573Y	S	-	2	0	SLITRK1	83351926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.515000	0.60489	2.603000	0.88011	0.655000	0.94253	TCC		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		18	8	1	0	5.03518e-11	0.007413	6.25436e-11	18	8				
SLITRK1	114798	broad.mit.edu	37	13	84455557	84455557	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:84455557C>G	ENST00000377084.2	-	1	971	c.86G>C	c.(85-87)tGt>tCt	p.C29S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	29	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATTGCAGGAACAGATCTTCTC	0.468																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(85-87)TGT>TCT		slit and trk like 1 protein precursor							93.0	92.0	92.0					13																	84455557		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455557C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.86G>C	13.37:g.84455557C>G	ENSP00000366288:p.Cys29Ser						p.C29S	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	972	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	29			LRRNT.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.86G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203891	0.38905	.	.	ENSG00000178235	ENST00000377084	T	0.73363	-0.74	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.86461	0.1779	10	0.87932	D	0	-5.1738	16.4907	0.84200	0.0:1.0:0.0:0.0	.	29	Q96PX8	SLIK1_HUMAN	S	29	ENSP00000366288:C29S	ENSP00000366288:C29S	C	-	2	0	SLITRK1	83353558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.533000	0.85409	0.561000	0.74099	TGT		0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		34	49	0	0	0	0.002836	0	34	49				
SLITRK5	26050	broad.mit.edu	37	13	88328109	88328109	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:88328109G>A	ENST00000325089.6	+	2	685	c.466G>A	c.(466-468)Gag>Aag	p.E156K	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	156					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGAGAACCTGGAGTACCTACA	0.448																																							uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(466-468)GAG>AAG		SLIT and NTRK-like family, member 5 precursor							96.0	92.0	94.0					13																	88328109		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328109G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.466G>A	13.37:g.88328109G>A	ENSP00000366283:p.Glu156Lys					SLITRK5_uc010tic.1_Intron	p.E156K	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	685	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		156			LRR 4.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.466G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096475	0.76870	.	.	ENSG00000165300	ENST00000325089	T	0.56444	0.46	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56691	-0.7937	9	.	.	.	-14.8608	17.7344	0.88388	0.0:0.0:1.0:0.0	.	156	O94991	SLIK5_HUMAN	K	156	ENSP00000366283:E156K	.	E	+	1	0	SLITRK5	87126110	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.797000	0.96272	0.561000	0.74099	GAG		0.448	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			23	63	0	0	0	0.001882	0	23	63				
SLITRK5	26050	broad.mit.edu	37	13	88330362	88330362	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:88330362G>T	ENST00000325089.6	+	2	2938	c.2719G>T	c.(2719-2721)Ggg>Tgg	p.G907W	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G666W	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	907					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCGGGGGCAGGGGACAGCAG	0.557																																							uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2719-2721)GGG>TGG		SLIT and NTRK-like family, member 5 precursor							70.0	77.0	75.0					13																	88330362		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88330362G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2719G>T	13.37:g.88330362G>T	ENSP00000366283:p.Gly907Trp					SLITRK5_uc010tic.1_Missense_Mutation_p.G666W	p.G907W	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2938	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		907			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2719G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017146	0.54576	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58652	0.32;0.66	5.77	5.77	0.91146	.	0.190052	0.36591	N	0.002514	T	0.60483	0.2272	N	0.22421	0.69	0.41430	D	0.987858	D;D	0.71674	0.998;0.997	P;P	0.62491	0.884;0.903	T	0.57774	-0.7753	9	.	.	.	-15.362	15.4984	0.75677	0.0:0.0:1.0:0.0	.	666;907	B4DSH5;O94991	.;SLIK5_HUMAN	W	907;666	ENSP00000366283:G907W;ENSP00000442244:G666W	.	G	+	1	0	SLITRK5	87128363	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	4.308000	0.59129	2.724000	0.93272	0.561000	0.74099	GGG		0.557	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			25	114	1	0	4.47668e-21	0.003954	6.73766e-21	25	114				
DCT	1638	broad.mit.edu	37	13	95120999	95120999	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:95120999C>A	ENST00000377028.5	-	2	1009		c.e2+1		DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Splice_Site	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase						cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAAAAACCCACCTAATAATGT	0.408																																							uc001vlv.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.e2+1		dopachrome tautomerase isoform 1							90.0	96.0	94.0					13																	95120999		2203	4300	6503	SO:0001630	splice_region_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95120999C>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.595+1G>T	13.37:g.95120999C>A						DCT_uc010afh.2_Splice_Site_p.G199_splice	p.G199_splice	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	1022	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)						Q09GT4	Splice_Site	SNP	ENST00000377028.5	37	c.595_splice	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720965	0.68959	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8199	0.96589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCT	93919000	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.487000	0.81328	2.677000	0.91161	0.655000	0.94253	.		0.408	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		Intron	72	51	1	0	3.41413e-29	0.00361	5.63871e-29	72	51				
OXGR1	27199	broad.mit.edu	37	13	97639385	97639386	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:97639385_97639386GG>TT	ENST00000298440.1	-	4	871_872	c.628_629CC>AA	c.(628-630)CCc>AAc	p.P210N	OXGR1_ENST00000543457.1_Missense_Mutation_p.P210N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	210					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATCACCAAGGGGAGGCAGAAA	0.475																																							uc001vmx.1		NA																	0				ovary(1)|skin(1)	2						c.(628-630)CCC>AAC		oxoglutarate (alpha-ketoglutarate) receptor 1																																				SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639385_97639386GG>TT	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.628_629delinsTT	13.37:g.97639385_97639386delinsTT	ENSP00000298440:p.Pro210Asn					OXGR1_uc010afr.1_Missense_Mutation_p.P210N	p.P210N	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	872_873	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		210			Helical; Name=5; (Potential).		Q5T5A7|Q86TL1	Missense_Mutation	DNP	ENST00000298440.1	37	c.628_629CC>AA	CCDS9482.1																																																																																				0.475	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		31	34	0	0	0	0.004672	0	31	34				
SLC15A1	6564	broad.mit.edu	37	13	99361875	99361875	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:99361875A>T	ENST00000376503.5	-	14	1073	c.1018T>A	c.(1018-1020)Ttc>Atc	p.F340I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	340					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ACAGCATCGAAGATCGGGACC	0.517																																							uc001vno.2		NA																	0				ovary(1)	1						c.(1018-1020)TTC>ATC		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						168.0	136.0	147.0					13																	99361875		2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99361875A>T	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1018T>A	13.37:g.99361875A>T	ENSP00000365686:p.Phe340Ile						p.F340I	NM_005073	NP_005064	P46059	S15A1_HUMAN			14	1095	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		340			Helical; (Potential).		Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.1018T>A	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673774	0.67928	.	.	ENSG00000088386	ENST00000376503	T	0.58358	0.34	5.74	-4.08	0.03963	Major facilitator superfamily domain, general substrate transporter (1);	0.445861	0.23593	N	0.046523	T	0.39911	0.1096	L	0.52364	1.645	0.80722	D	1	B	0.11235	0.004	B	0.23018	0.043	T	0.02064	-1.1220	10	0.72032	D	0.01	-23.739	7.0149	0.24883	0.2571:0.6359:0.0:0.1071	.	340	P46059	S15A1_HUMAN	I	340	ENSP00000365686:F340I	ENSP00000365686:F340I	F	-	1	0	SLC15A1	98159876	0.063000	0.20901	0.003000	0.11579	0.721000	0.41392	-0.247000	0.08866	-1.475000	0.01876	0.459000	0.35465	TTC		0.517	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		27	26	0	0	0	0.008361	0	27	26				
KDELC1	79070	broad.mit.edu	37	13	103450906	103450906	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:103450906G>T	ENST00000376004.4	-	1	451	c.115C>A	c.(115-117)Cta>Ata	p.L39I	KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000257336.1_5'Flank|BIVM_ENST00000448849.2_5'Flank|BIVM_ENST00000419638.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	39						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTGCTTTTAGCCCGGGTCCC	0.527																																							uc001vpq.3		NA																	0				ovary(1)	1						c.(115-117)CTA>ATA		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							78.0	74.0	75.0					13																	103450906		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103450906G>T	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.115C>A	13.37:g.103450906G>T	ENSP00000365172:p.Leu39Ile					KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	p.L39I	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			1	499	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		39			Filamin.		Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.115C>A	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086094	0.94100	.	.	ENSG00000134901	ENST00000376004	D	0.84298	-1.83	5.32	3.57	0.40892	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88826	0.6542	M	0.79475	2.455	0.58432	D	0.999997	B	0.23490	0.086	B	0.42959	0.403	D	0.86321	0.1692	10	0.52906	T	0.07	.	12.1349	0.53966	0.1427:0.0:0.8573:0.0	.	39	Q6UW63	KDEL1_HUMAN	I	39	ENSP00000365172:L39I	ENSP00000365172:L39I	L	-	1	2	KDELC1	102248907	1.000000	0.71417	0.778000	0.31720	0.977000	0.68977	3.612000	0.54142	0.719000	0.32188	0.650000	0.86243	CTA		0.527	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			34	17	1	0	1.22384e-17	0.002836	1.73272e-17	34	17				
ERCC5	2073	broad.mit.edu	37	13	103514619	103514619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:103514619G>T	ENST00000355739.4	+	8	2543	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R799L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	374					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.A374T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGGAGGAACGCACCTGCTGC	0.522			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1120-1122)GCA>TCA	Direct_reversal_of_damage|NER	XPG-complementing protein							69.0	67.0	68.0					13																	103514619		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103514619G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1120G>T	13.37:g.103514619G>T	ENSP00000347978:p.Ala374Ser					ERCC5_uc001vpu.1_Missense_Mutation_p.A828S|ERCC5_uc010tjb.1_Missense_Mutation_p.A374S|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A206S	p.A374S	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1563	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		374					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1120G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	6.048	0.377115	0.11466	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.19806	2.12	5.22	-2.18	0.07037	.	0.889887	0.09633	N	0.775991	T	0.10594	0.0259	L	0.38531	1.155	0.09310	N	1	B;B;B	0.20261	0.024;0.043;0.04	B;B;B	0.17098	0.017;0.017;0.011	T	0.40175	-0.9577	10	0.06494	T	0.89	-1.3757	1.9496	0.03364	0.2285:0.3574:0.2382:0.1758	.	374;374;799	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	S	799;374;206	ENSP00000347978:A374S	ENSP00000347978:A374S	A	+	1	0	ERCC5	102312620	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.483000	0.06536	-0.638000	0.05509	-0.150000	0.13652	GCA		0.522	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			45	30	1	0	5.78141e-17	0.003214	8.04407e-17	45	30				
FAM155A	728215	broad.mit.edu	37	13	108518057	108518057	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:108518057C>A	ENST00000375915.2	-	1	1026	c.888G>T	c.(886-888)tcG>tcT	p.S296S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	296						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGGATTTCACCGAGTACTCCT	0.498																																							uc001vql.2		NA																	0				skin(1)	1						c.(886-888)TCG>TCT		family with sequence similarity 155, member A							97.0	99.0	98.0					13																	108518057		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518057C>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.888G>T	13.37:g.108518057C>A							p.S296S	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1404	-			296					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.888G>T	CCDS32006.1																																																																																				0.498	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		42	36	1	0	1.96642e-18	0.006999	2.81708e-18	42	36				
MYO16	23026	broad.mit.edu	37	13	109777616	109777616	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:109777616G>T	ENST00000357550.2	+	29	3667	c.3626G>T	c.(3625-3627)cGg>cTg	p.R1209L	MYO16_ENST00000356711.2_Missense_Mutation_p.R1209L|MYO16_ENST00000457511.2_Missense_Mutation_p.R721L	NM_001198950.1	NP_001185879.1			myosin XVI									p.R1209>?(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACATTGCCCGGGAAAATGAC	0.478																																							uc001vqt.1		NA																	1	Complex(1)		NS(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3625-3627)CGG>CTG		myosin heavy chain Myr 8							63.0	58.0	60.0					13																	109777616		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777616G>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3626G>T	13.37:g.109777616G>T	ENSP00000350160:p.Arg1209Leu					MYO16_uc010agk.1_Missense_Mutation_p.R1231L|MYO16_uc010tjh.1_Missense_Mutation_p.R721L	p.R1209L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3752	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1209						Missense_Mutation	SNP	ENST00000357550.2	37	c.3626G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926696	0.92319	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.52295	0.67;0.67;0.67	5.75	4.9	0.64082	.	0.000000	0.37906	U	0.001882	T	0.66867	0.2833	M	0.75264	2.295	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.67023	-0.5775	9	.	.	.	.	13.2971	0.60303	0.0752:0.0:0.9248:0.0	.	721;1209	F8W883;Q9Y6X6	.;MYO16_HUMAN	L	1209;1209;721	ENSP00000349145:R1209L;ENSP00000350160:R1209L;ENSP00000401633:R721L	.	R	+	2	0	MYO16	108575617	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	6.845000	0.75394	2.716000	0.92895	0.655000	0.94253	CGG		0.478	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		16	23	1	0	3.35478e-16	0.003163	4.61133e-16	16	23				
TMCO3	55002	broad.mit.edu	37	13	114202690	114202690	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr13:114202690G>T	ENST00000434316.2	+	12	2202	c.1843G>T	c.(1843-1845)Gcg>Tcg	p.A615S	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	615						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GATCGTCTCTGCGGGGCTTGC	0.627																																							uc001vtu.3		NA																	0					0						c.(1843-1845)GCG>TCG		transmembrane and coiled-coil domains 3							73.0	71.0	71.0					13																	114202690		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114202690G>T	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1843G>T	13.37:g.114202690G>T	ENSP00000389399:p.Ala615Ser						p.A615S	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		12	2204	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	615			Helical; (Potential).		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1843G>T	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921532	0.73213	.	.	ENSG00000150403	ENST00000434316	T	0.15372	2.43	4.94	4.94	0.65067	Cation/H+ exchanger (1);	0.106419	0.64402	D	0.000005	T	0.26340	0.0643	L	0.52011	1.625	0.80722	D	1	P	0.49635	0.926	P	0.48815	0.591	T	0.01165	-1.1431	10	0.40728	T	0.16	-3.2798	18.2151	0.89882	0.0:0.0:1.0:0.0	.	615	Q6UWJ1	TMCO3_HUMAN	S	615	ENSP00000389399:A615S	ENSP00000389399:A615S	A	+	1	0	TMCO3	113250691	1.000000	0.71417	0.058000	0.19502	0.479000	0.33129	7.390000	0.79816	2.293000	0.77203	0.555000	0.69702	GCG		0.627	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		43	32	1	0	4.64027e-19	0.00361	6.73239e-19	43	32				
OR11H12	440153	broad.mit.edu	37	14	19378079	19378079	+	Silent	SNP	G	G	T	rs376087076		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:19378079G>T	ENST00000550708.1	+	1	558	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTCATACTGTGCTGGGTTT	0.473																																							uc010tkp.1		NA																	0				ovary(2)	2						c.(484-486)CTG>CTT		olfactory receptor, family 11, subfamily H,							151.0	165.0	160.0					14																	19378079		2201	4294	6495	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378079G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.486G>T	14.37:g.19378079G>T							p.L162L	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	486	+	all_cancers(95;0.00108)		162			Helical; Name=4; (Potential).			Silent	SNP	ENST00000550708.1	37	c.486G>T	CCDS32017.1																																																																																				0.473	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		65	313	1	0	1.37693e-34	0.00361	2.3671e-34	65	313				
OR4Q3	441669	broad.mit.edu	37	14	20215914	20215914	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20215914G>T	ENST00000331723.1	+	1	328	c.328G>T	c.(328-330)Gcc>Tcc	p.A110S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTCTAGGAGCCAGTGAGAT	0.488																																							uc010tkt.1		NA																	0				breast(3)	3						c.(328-330)GCC>TCC		olfactory receptor, family 4, subfamily Q,							64.0	67.0	66.0					14																	20215914		2203	4299	6502	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215914G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.328G>T	14.37:g.20215914G>T	ENSP00000330049:p.Ala110Ser						p.A110S	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	328	+	all_cancers(95;0.00108)		110			Helical; Name=3; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.328G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.934404	0.34096	.	.	ENSG00000182652	ENST00000331723	T	0.03004	4.08	4.49	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.198110	0.24398	U	0.038865	T	0.01489	0.0048	N	0.01624	-0.795	0.22034	N	0.999402	B	0.18741	0.03	B	0.14023	0.01	T	0.44251	-0.9340	10	0.72032	D	0.01	.	5.8474	0.18673	0.0964:0.0:0.6016:0.302	.	110	Q8NH05	OR4Q3_HUMAN	S	110	ENSP00000330049:A110S	ENSP00000330049:A110S	A	+	1	0	OR4Q3	19285754	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-1.033000	0.03571	1.086000	0.41228	0.509000	0.49947	GCC		0.488	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			13	142	1	0	1.5842e-08	0.001855	1.8682e-08	13	142				
OR4M1	441670	broad.mit.edu	37	14	20248716	20248716	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20248716C>G	ENST00000315957.4	+	1	316	c.235C>G	c.(235-237)Cct>Gct	p.P79A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTACAGCCCCTAAAATGCT	0.443																																							uc010tku.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CCT>GCT		olfactory receptor, family 4, subfamily M,							271.0	293.0	286.0					14																	20248716		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248716C>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.235C>G	14.37:g.20248716C>G	ENSP00000319654:p.Pro79Ala						p.P79A	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	235	+	all_cancers(95;0.00108)		79			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.235C>G	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	18.45	3.627461	0.66901	.	.	ENSG00000176299	ENST00000315957	T	0.01838	4.61	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000268	T	0.20981	0.0505	H	0.97186	3.955	0.47778	D	0.999519	D	0.89917	1.0	D	0.87578	0.998	T	0.25433	-1.0132	10	0.87932	D	0	-11.3593	14.4139	0.67135	0.0:1.0:0.0:0.0	.	79	Q8NGD0	OR4M1_HUMAN	A	79	ENSP00000319654:P79A	ENSP00000319654:P79A	P	+	1	0	OR4M1	19318556	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.162000	0.77515	2.338000	0.79540	0.401000	0.26515	CCT		0.443	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			139	610	0	0	0	0.00361	0	139	610				
OR4K2	390431	broad.mit.edu	37	14	20344691	20344691	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20344691C>A	ENST00000298642.2	+	1	301	c.265C>A	c.(265-267)Cac>Aac	p.H89N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTAACAGGTCACAAAACCAT	0.408																																							uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(265-267)CAC>AAC		olfactory receptor, family 4, subfamily K,							228.0	228.0	228.0					14																	20344691		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344691C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.265C>A	14.37:g.20344691C>A	ENSP00000298642:p.His89Asn						p.H89N	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	265	+	all_cancers(95;0.00108)		89			Extracellular (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.265C>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	2.027	-0.423442	0.04734	.	.	ENSG00000165762	ENST00000298642	T	0.05580	3.42	5.27	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.259498	0.27159	N	0.020660	T	0.03520	0.0101	N	0.05510	-0.035	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42832	-0.9428	10	0.24483	T	0.36	.	11.5581	0.50761	0.445:0.5549:0.0:0.0	.	89	Q8NGD2	OR4K2_HUMAN	N	89	ENSP00000298642:H89N	ENSP00000298642:H89N	H	+	1	0	OR4K2	19414531	0.000000	0.05858	0.863000	0.33907	0.319000	0.28217	-0.576000	0.05854	1.422000	0.47177	0.563000	0.77884	CAC		0.408	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			191	181	1	0	3.43769e-75	0.00361	6.44234e-75	191	181				
OR4K5	79317	broad.mit.edu	37	14	20388871	20388871	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20388871A>G	ENST00000315915.4	+	1	131	c.106A>G	c.(106-108)Aca>Gca	p.T36A		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGTATACAGTCATTGT	0.403																																							uc010tkw.1		NA																	0				ovary(1)|skin(1)	2						c.(106-108)ACA>GCA		olfactory receptor, family 4, subfamily K,							194.0	202.0	199.0					14																	20388871		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388871A>G	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.106A>G	14.37:g.20388871A>G	ENSP00000319511:p.Thr36Ala						p.T36A	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	106	+	all_cancers(95;0.00108)		36			Helical; Name=1; (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.106A>G	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	3.533	-0.095375	0.07010	.	.	ENSG00000176281	ENST00000315915	T	0.02944	4.1	4.41	-5.55	0.02536	.	0.789020	0.10984	N	0.612435	T	0.01489	0.0048	N	0.17278	0.47	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43988	-0.9357	10	0.41790	T	0.15	.	1.9275	0.03320	0.4847:0.1106:0.181:0.2237	.	36	Q8NGD3	OR4K5_HUMAN	A	36	ENSP00000319511:T36A	ENSP00000319511:T36A	T	+	1	0	OR4K5	19458711	0.000000	0.05858	0.001000	0.08648	0.235000	0.25334	-1.997000	0.01470	-1.225000	0.02578	-0.242000	0.12053	ACA		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		61	274	0	0	0	0.00361	0	61	274				
OR4K13	390433	broad.mit.edu	37	14	20502265	20502266	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20502265_20502266TA>AT	ENST00000315693.2	-	1	653_654	c.652_653TA>AT	c.(652-654)TAt>ATt	p.Y218I	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATGACTCCATAGGAGACAAGC	0.485																																							uc010tkz.1		NA																	0				ovary(2)	2						c.(652-654)TAT>ATT		olfactory receptor, family 4, subfamily K,																																				SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502265_20502266TA>AT		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.652_653delinsAT	14.37:g.20502265_20502266delinsAT	ENSP00000319322:p.Tyr218Ile						p.Y218I	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	652_653	-	all_cancers(95;0.00108)		218			Helical; Name=5; (Potential).		Q6IF13	Missense_Mutation	DNP	ENST00000315693.2	37	c.652_653TA>AT	CCDS32028.1																																																																																				0.485	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			52	9	0	0	0	0.004672	0	52	9				
OR4L1	122742	broad.mit.edu	37	14	20528666	20528666	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20528666C>A	ENST00000315683.1	+	1	463	c.463C>A	c.(463-465)Cac>Aac	p.H155N		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGGTTTTTTACACTCCATAAG	0.403																																							uc001vwn.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(463-465)CAC>AAC		olfactory receptor, family 4, subfamily L,							145.0	136.0	139.0					14																	20528666		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528666C>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.463C>A	14.37:g.20528666C>A	ENSP00000319217:p.His155Asn						p.H155N	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	463	+	all_cancers(95;0.00108)		155			Helical; Name=4; (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.463C>A	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	8.013	0.757994	0.15846	.	.	ENSG00000176246	ENST00000315683	T	0.37058	1.22	4.37	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.45256	0.1333	L	0.45228	1.405	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11842	-1.0571	10	0.87932	D	0	.	5.714	0.17950	0.0:0.6909:0.0:0.3091	.	155	Q8NH43	OR4L1_HUMAN	N	155	ENSP00000319217:H155N	ENSP00000319217:H155N	H	+	1	0	OR4L1	19598506	0.000000	0.05858	0.639000	0.29394	0.011000	0.07611	-0.512000	0.06313	1.178000	0.42870	0.650000	0.86243	CAC		0.403	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			81	13	1	0	7.31121e-38	0.00361	1.27501e-37	81	13				
OR11H6	122748	broad.mit.edu	37	14	20692206	20692206	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20692206C>A	ENST00000315519.2	+	1	416	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATCTCCTTCTCTGGTTGCTTC	0.413																																							uc010tlc.1		NA																	0				ovary(2)|skin(1)	3						c.(337-339)TCT>TAT		olfactory receptor, family 11, subfamily H,							144.0	140.0	142.0					14																	20692206		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692206C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.338C>A	14.37:g.20692206C>A	ENSP00000319071:p.Ser113Tyr						p.S113Y	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	338	+	all_cancers(95;0.00108)		113			Extracellular (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.338C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425227	0.25639	.	.	ENSG00000176219	ENST00000315519	T	0.00348	8.0	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.285984	0.25078	N	0.033314	T	0.00300	0.0009	L	0.52266	1.64	0.26763	N	0.969969	B	0.18741	0.03	B	0.21708	0.036	T	0.47249	-0.9132	10	0.22706	T	0.39	.	14.9119	0.70764	0.0:1.0:0.0:0.0	.	113	Q8NGC7	O11H6_HUMAN	Y	113	ENSP00000319071:S113Y	ENSP00000319071:S113Y	S	+	2	0	OR11H6	19762046	0.000000	0.05858	1.000000	0.80357	0.933000	0.57130	0.139000	0.16036	2.371000	0.80710	0.442000	0.29010	TCT		0.413	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			74	10	1	0	1.356e-25	0.00361	2.162e-25	74	10				
PNP	4860	broad.mit.edu	37	14	20940629	20940629	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:20940629A>T	ENST00000361505.5	+	2	320	c.174A>T	c.(172-174)cgA>cgT	p.R58R	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						ACTTTCCCCGAAGTACAGGTA	0.468																																							uc001vxo.3		NA																	0				ovary(2)	2						c.(172-174)CGA>CGT		nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						56.0	51.0	53.0					14																	20940629		2203	4300	6503	SO:0001819	synonymous_variant	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20940629A>T		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.174A>T	14.37:g.20940629A>T						PNP_uc010ahm.1_Silent_p.R58R|PNP_uc010ahn.2_Silent_p.R58R|PNP_uc001vxn.3_5'UTR	p.R58R	NM_000270	NP_000261	P00491	PNPH_HUMAN			2	316	+			58						Silent	SNP	ENST00000361505.5	37	c.174A>T	CCDS9552.1																																																																																				0.468	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		11	15	0	0	0	0.000978	0	11	15				
CHD8	57680	broad.mit.edu	37	14	21863490	21863490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:21863490C>A	ENST00000557364.1	-	29	5412	c.5149G>T	c.(5149-5151)Gat>Tat	p.D1717Y	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.D1438Y|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.D1717Y			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1717					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATCTCCTCATCCATCATCATC	0.468																																							uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(4312-4314)GAT>TAT		chromodomain helicase DNA binding protein 8							59.0	54.0	56.0					14																	21863490		1921	4125	6046	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21863490C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5149G>T	14.37:g.21863490C>A	ENSP00000451601:p.Asp1717Tyr					CHD8_uc001war.1_Missense_Mutation_p.D1334Y	p.D1438Y	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	29	4406	-	all_cancers(95;0.00121)		1717					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4312G>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167968	0.78339	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.86956	-2.19;-2.19;-2.19	5.43	5.43	0.79202	.	0.104391	0.64402	D	0.000004	D	0.92525	0.7626	M	0.77820	2.39	0.80722	D	1	D	0.63880	0.993	P	0.59221	0.854	D	0.93068	0.6480	10	0.87932	D	0	-18.6642	18.1794	0.89772	0.0:1.0:0.0:0.0	.	1438	Q9HCK8-2	.	Y	1438;1717;1437;1717	ENSP00000406288:D1438Y;ENSP00000382863:D1717Y;ENSP00000451601:D1717Y	ENSP00000262707:D1437Y	D	-	1	0	CHD8	20933330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.174000	0.50847	2.823000	0.97156	0.650000	0.86243	GAT		0.468	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		4	10	1	0	0.00024832	0.009096	0.000262719	4	10				
CEBPE	1053	broad.mit.edu	37	14	23588155	23588155	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:23588155C>A	ENST00000206513.5	-	1	670	c.146G>T	c.(145-147)gGg>gTg	p.G49V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	49					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGCTCTTCCCCAGACTCGAT	0.647																																					NSCLC(63;1230 1818 14565 22565)	NSCLC(63;1230 1818 14565 22565)	uc001wiv.1		NA																	0				ovary(2)	2						c.(145-147)GGG>GTG		CCAAT/enhancer binding protein epsilon							53.0	58.0	56.0					14																	23588155		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23588155C>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.146G>T	14.37:g.23588155C>A	ENSP00000206513:p.Gly49Val						p.G49V	NM_001805	NP_001796	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	320	-	all_cancers(95;4.6e-05)		49					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.146G>T	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033447	0.54896	.	.	ENSG00000092067	ENST00000206513	T	0.30448	1.53	4.36	4.36	0.52297	.	0.125201	0.51477	D	0.000091	T	0.32615	0.0835	L	0.36672	1.1	0.80722	D	1	D	0.59357	0.985	P	0.49477	0.612	T	0.03325	-1.1048	10	0.29301	T	0.29	-36.0782	15.8114	0.78568	0.0:1.0:0.0:0.0	.	49	Q15744	CEBPE_HUMAN	V	49	ENSP00000206513:G49V	ENSP00000206513:G49V	G	-	2	0	CEBPE	22657995	0.996000	0.38824	1.000000	0.80357	0.869000	0.49853	1.350000	0.34010	2.240000	0.73641	0.561000	0.74099	GGG		0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		55	12	1	0	1.78197e-24	0.00361	2.80189e-24	55	12				
TM9SF1	10548	broad.mit.edu	37	14	24662025	24662025	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:24662025C>T	ENST00000261789.4	-	3	1154	c.796G>A	c.(796-798)Gct>Act	p.A266T	TM9SF1_ENST00000524835.1_Missense_Mutation_p.A179T|TM9SF1_ENST00000396854.4_Missense_Mutation_p.A266T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A475T|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A266T|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A475T	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	266					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TTGTACCGAGCCAGGTCATTC	0.473																																							uc001wnb.1		NA																	0				ovary(1)	1						c.(796-798)GCT>ACT		transmembrane 9 superfamily member 1 isoform a							132.0	118.0	123.0					14																	24662025		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24662025C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.796G>A	14.37:g.24662025C>T	ENSP00000261789:p.Ala266Thr					IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.A179T|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.A501T|TM9SF1_uc001wnc.2_Missense_Mutation_p.A266T|TM9SF1_uc001wnd.2_Missense_Mutation_p.A122T	p.A266T	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	3	1144	-			266					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.796G>A	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016024	0.93404	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530611	T;T;T;T;T;T;T;T	0.59224	0.86;0.86;0.86;0.28;0.86;0.86;0.86;0.86	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.64260	1.97	0.80722	D	1	P;P;P	0.51240	0.599;0.943;0.47	P;P;B	0.57548	0.472;0.823;0.42	T	0.71286	-0.4638	10	0.56958	D	0.05	-10.4932	16.0641	0.80859	0.0:1.0:0.0:0.0	.	266;266;266	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	T	266;266;475;179;266;266;179;475	ENSP00000261789:A266T;ENSP00000432997:A266T;ENSP00000451949:A475T;ENSP00000434387:A179T;ENSP00000380063:A266T;ENSP00000431447:A266T;ENSP00000437127:A179T;ENSP00000433967:A475T	ENSP00000433967:A475T	A	-	1	0	TM9SF1;RP11-468E2.1	23731865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.747000	0.74872	2.644000	0.89710	0.655000	0.94253	GCT		0.473	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		63	71	0	0	0	0.00361	0	63	71				
TM9SF1	10548	broad.mit.edu	37	14	24662418	24662418	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:24662418C>T	ENST00000261789.4	-	3	761	c.403G>A	c.(403-405)Gac>Aac	p.D135N	TM9SF1_ENST00000524835.1_Missense_Mutation_p.D48N|TM9SF1_ENST00000396854.4_Missense_Mutation_p.D135N|TM9SF1_ENST00000556387.1_Missense_Mutation_p.D344N|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000528669.1_Missense_Mutation_p.D135N|TM9SF1_ENST00000530611.1_Missense_Mutation_p.D344N	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	135					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATTGGCAAGTCATCTACCACA	0.507																																							uc001wnb.1		NA																	0				ovary(1)	1						c.(403-405)GAC>AAC		transmembrane 9 superfamily member 1 isoform a							55.0	55.0	55.0					14																	24662418		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24662418C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.403G>A	14.37:g.24662418C>T	ENSP00000261789:p.Asp135Asn					IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.D48N|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.D370N|TM9SF1_uc001wnc.2_Missense_Mutation_p.D135N|TM9SF1_uc001wnd.2_5'UTR	p.D135N	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	3	751	-			135					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.403G>A	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072726	0.76415	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000528010;ENST00000530611	T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.7	5.7	0.88788	.	0.052832	0.64402	D	0.000001	T	0.30293	0.0760	N	0.17474	0.49	0.80722	D	1	B;B	0.28026	0.094;0.198	B;B	0.34931	0.08;0.192	T	0.07083	-1.0791	10	0.06891	T	0.86	-21.6147	17.3409	0.87296	0.0:1.0:0.0:0.0	.	135;135	Q86SZ6;O15321	.;TM9S1_HUMAN	N	135;135;344;48;135;135;48;135;135;135;344	ENSP00000261789:D135N;ENSP00000432997:D135N;ENSP00000451949:D344N;ENSP00000434387:D48N;ENSP00000380063:D135N;ENSP00000431447:D135N;ENSP00000437127:D48N;ENSP00000435857:D135N;ENSP00000432435:D135N;ENSP00000433792:D135N;ENSP00000433967:D344N	ENSP00000433967:D344N	D	-	1	0	TM9SF1;RP11-468E2.1	23732258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.825000	0.75293	2.688000	0.91661	0.655000	0.94253	GAC		0.507	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		51	45	0	0	0	0.00361	0	51	45				
TM9SF1	10548	broad.mit.edu	37	14	24664018	24664018	+	Missense_Mutation	SNP	C	C	T	rs148543793		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:24664018C>T	ENST00000261789.4	-	2	566	c.208G>A	c.(208-210)Gag>Aag	p.E70K	TM9SF1_ENST00000524835.1_5'UTR|TM9SF1_ENST00000396854.4_Missense_Mutation_p.E70K|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E279K|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E70K|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E279K	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	70					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.E70K(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CGTATCTTCTCAGGGCAGCAG	0.507																																							uc001wnb.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(208-210)GAG>AAG		transmembrane 9 superfamily member 1 isoform a							390.0	388.0	389.0					14																	24664018		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24664018C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.208G>A	14.37:g.24664018C>T	ENSP00000261789:p.Glu70Lys					TM9SF1_uc010toa.1_5'UTR|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.E305K|TM9SF1_uc001wnc.2_Missense_Mutation_p.E70K|TM9SF1_uc001wnd.2_5'Flank	p.E70K	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	2	556	-			70					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.208G>A	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103303	0.56183	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000396854;ENST00000528895;ENST00000530468;ENST00000525592;ENST00000528010;ENST00000530611	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	N	0.11927	0.2	0.53005	D	0.999966	B;B	0.19583	0.037;0.001	B;B	0.21360	0.034;0.02	T	0.08229	-1.0732	10	0.22706	T	0.39	-11.4306	16.2171	0.82237	0.0:1.0:0.0:0.0	.	70;70	Q86SZ6;O15321	.;TM9S1_HUMAN	K	70;70;279;70;70;70;70;70;279	ENSP00000261789:E70K;ENSP00000432997:E70K;ENSP00000451949:E279K;ENSP00000380063:E70K;ENSP00000431447:E70K;ENSP00000435857:E70K;ENSP00000432435:E70K;ENSP00000433792:E70K;ENSP00000433967:E279K	ENSP00000433967:E279K	E	-	1	0	TM9SF1;RP11-468E2.1	23733858	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	2.700000	0.92200	0.563000	0.77884	GAG		0.507	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		468	393	0	0	0	0.00361	0	468	393				
CTSG	1511	broad.mit.edu	37	14	25042994	25042994	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:25042994A>T	ENST00000216336.2	-	5	653	c.617T>A	c.(616-618)cTg>cAg	p.L206Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	206	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATTGTTACACAGCAGGGGGCC	0.592																																							uc001wpq.2		NA																	0				ovary(2)	2						c.(616-618)CTG>CAG		cathepsin G preproprotein							80.0	88.0	86.0					14																	25042994		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042994A>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.617T>A	14.37:g.25042994A>T	ENSP00000216336:p.Leu206Gln						p.L206Q	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	654	-			206			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.617T>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157902	0.38119	.	.	ENSG00000100448	ENST00000216336	D	0.89810	-2.57	4.63	4.63	0.57726	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.587826	0.13002	N	0.421558	D	0.89298	0.6675	N	0.20328	0.56	0.27489	N	0.952354	D	0.59767	0.986	D	0.70935	0.971	T	0.81957	-0.0695	10	0.87932	D	0	.	10.9889	0.47539	1.0:0.0:0.0:0.0	.	206	P08311	CATG_HUMAN	Q	206	ENSP00000216336:L206Q	ENSP00000216336:L206Q	L	-	2	0	CTSG	24112834	0.727000	0.28069	0.031000	0.17742	0.026000	0.11368	5.838000	0.69388	2.026000	0.59711	0.448000	0.29417	CTG		0.592	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		81	21	0	0	0	0.00361	0	81	21				
CTSG	1511	broad.mit.edu	37	14	25043928	25043928	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:25043928G>T	ENST00000216336.2	-	3	328	c.292C>A	c.(292-294)Cct>Act	p.P98T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTATATTGAGGGTGGCGGATG	0.527																																							uc001wpq.2		NA																	0				ovary(2)	2						c.(292-294)CCT>ACT		cathepsin G preproprotein							216.0	173.0	188.0					14																	25043928		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043928G>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.292C>A	14.37:g.25043928G>T	ENSP00000216336:p.Pro98Thr						p.P98T	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	329	-			98			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.292C>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881208	0.72294	.	.	ENSG00000100448	ENST00000216336	D	0.95518	-3.73	5.14	5.14	0.70334	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37761	N	0.001950	D	0.98040	0.9354	M	0.91300	3.195	0.38752	D	0.95412	D	0.61080	0.989	D	0.79784	0.993	D	0.99868	1.1092	10	0.87932	D	0	.	14.8308	0.70146	0.0:0.0:1.0:0.0	.	98	P08311	CATG_HUMAN	T	98	ENSP00000216336:P98T	ENSP00000216336:P98T	P	-	1	0	CTSG	24113768	0.996000	0.38824	0.960000	0.40013	0.006000	0.05464	2.702000	0.47102	2.780000	0.95670	0.655000	0.94253	CCT		0.527	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		42	6	1	0	9.73076e-26	0.006999	1.55403e-25	42	6				
NOVA1	4857	broad.mit.edu	37	14	26917170	26917170	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:26917170C>A	ENST00000539517.2	-	5	1836	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C	NOVA1_ENST00000267422.7_Missense_Mutation_p.G385C|NOVA1_ENST00000465357.2_Missense_Mutation_p.G483C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	510					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)		GGCACTCAACCCACTTTCTGA	0.428																																							uc001wpy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(1519-1521)GGT>TGT		neuro-oncological ventral antigen 1 isoform 1							81.0	75.0	77.0					14																	26917170		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917170C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1519G>T	14.37:g.26917170C>A	ENSP00000438875:p.Gly507Cys					NOVA1_uc001wpz.2_Missense_Mutation_p.G483C|NOVA1_uc001wqa.2_Missense_Mutation_p.G385C	p.G507C	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1837	-			510					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1519G>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825108	0.50739	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.50813	0.87;0.8;0.73	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.992;0.999	T	0.63413	-0.6643	10	0.87932	D	0	-7.697	19.6296	0.95694	0.0:1.0:0.0:0.0	.	510;483;507	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	C	483;507;385	ENSP00000447391:G483C;ENSP00000438875:G507C;ENSP00000267422:G385C	ENSP00000267422:G385C	G	-	1	0	NOVA1	25987010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.873000	0.98535	0.563000	0.77884	GGT		0.428	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		89	35	1	0	6.03386e-27	0.00361	9.75709e-27	89	35				
FOXG1	2290	broad.mit.edu	37	14	29237673	29237673	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:29237673C>T	ENST00000313071.4	+	1	1387	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	FOXG1_ENST00000382535.3_Silent_p.C396C	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	396	Interaction with KDM5B.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGGTGCCCTGCTCTGGGACCT	0.682																																							uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1186-1188)TGC>TGT		forkhead box G1							44.0	36.0	39.0					14																	29237673		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237673C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1188C>T	14.37:g.29237673C>T							p.C396C	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1387	+			396			Interaction with KDM5B.		A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1188C>T	CCDS9636.1																																																																																				0.682	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			18	3	0	0	0	0.008871	0	18	3				
FOXG1	2290	broad.mit.edu	37	14	29237796	29237796	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:29237796G>T	ENST00000313071.4	+	1	1510	c.1311G>T	c.(1309-1311)agG>agT	p.R437S	FOXG1_ENST00000382535.3_Missense_Mutation_p.R437S	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	437					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGAGCGCCAGGGCCGCGTCCT	0.637																																							uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(1309-1311)AGG>AGT		forkhead box G1							64.0	59.0	61.0					14																	29237796		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237796G>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1311G>T	14.37:g.29237796G>T	ENSP00000339004:p.Arg437Ser						p.R437S	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1510	+			437					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1311G>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628667	0.28978	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93076	-3.16;-3.16	4.14	3.21	0.36854	.	0.817190	0.10163	U	0.708012	D	0.85448	0.5699	N	0.08118	0	0.48901	D	0.999726	B	0.25105	0.118	B	0.22386	0.039	T	0.74038	-0.3793	10	0.22706	T	0.39	.	13.7803	0.63079	0.0:0.1553:0.8447:0.0	.	437	P55316	FOXG1_HUMAN	S	437	ENSP00000371975:R437S;ENSP00000339004:R437S	ENSP00000339004:R437S	R	+	3	2	FOXG1	28307547	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.181000	0.50903	0.807000	0.34208	0.491000	0.48974	AGG		0.637	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			31	6	1	0	6.97489e-18	0.004878	9.91141e-18	31	6				
G2E3	55632	broad.mit.edu	37	14	31066643	31066643	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:31066643G>T	ENST00000206595.6	+	7	700	c.546G>T	c.(544-546)gcG>gcT	p.A182A	G2E3_ENST00000553504.1_Silent_p.A212A|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Silent_p.A136A	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A182A(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAATAAATGCGGGAGTGTTTT	0.313																																							uc001wqk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(544-546)GCG>GCT		G2/M-phase specific E3 ubiquitin ligase							149.0	165.0	160.0					14																	31066643		2203	4299	6502	SO:0001819	synonymous_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31066643G>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.546G>T	14.37:g.31066643G>T						G2E3_uc010tpe.1_Silent_p.A136A|G2E3_uc010tpf.1_Silent_p.A136A	p.A182A	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			7	700	+			182			PHD-type 2; degenerate.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	37	c.546G>T	CCDS9638.1																																																																																				0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		51	123	1	0	2.01807e-28	0.00361	3.31883e-28	51	123				
STRN3	29966	broad.mit.edu	37	14	31371816	31371816	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:31371816A>C	ENST00000357479.5	-	16	2259	c.2063T>G	c.(2062-2064)gTa>gGa	p.V688G	STRN3_ENST00000355683.5_Missense_Mutation_p.V604G	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	688					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GGGATGACTTACTACTCTGTT	0.299																																							uc001wqu.2		NA																	0					0						c.(2062-2064)GTA>GGA		nuclear autoantigen isoform 1							124.0	123.0	123.0					14																	31371816		2203	4296	6499	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31371816A>C		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2063T>G	14.37:g.31371816A>C	ENSP00000350071:p.Val688Gly					STRN3_uc001wqv.2_Missense_Mutation_p.V604G|STRN3_uc010tpj.1_RNA	p.V688G	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2279	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		688			WD 4.		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2063T>G	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795849	0.70452	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	D;D	0.81499	-1.5;-1.5	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	M	0.87900	2.915	0.80722	D	1	P;D	0.64830	0.729;0.994	B;P	0.55055	0.439;0.767	D	0.90859	0.4737	10	0.87932	D	0	-11.1084	16.2159	0.82217	1.0:0.0:0.0:0.0	.	604;688	Q13033-2;Q13033	.;STRN3_HUMAN	G	604;688	ENSP00000347909:V604G;ENSP00000350071:V688G	ENSP00000347909:V604G	V	-	2	0	STRN3	30441567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.243000	0.73865	0.533000	0.62120	GTA		0.299	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		24	33	0	0	0	0.005443	0	24	33				
HECTD1	25831	broad.mit.edu	37	14	31583534	31583534	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:31583534T>A	ENST00000399332.1	-	31	6119	c.5631A>T	c.(5629-5631)agA>agT	p.R1877S	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1877S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1877					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTTCATTTCTCTGTACATGA	0.249																																							uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(5629-5631)AGA>AGT		HECT domain containing 1							62.0	54.0	57.0					14																	31583534		1795	4056	5851	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31583534T>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5631A>T	14.37:g.31583534T>A	ENSP00000382269:p.Arg1877Ser					HECTD1_uc001wra.1_Missense_Mutation_p.R3S|HECTD1_uc001wrb.1_Missense_Mutation_p.R3S|HECTD1_uc001wrd.1_Missense_Mutation_p.R1345S	p.R1877S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	31	6120	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1877					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5631A>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.20|17.20	3.328692|3.328692	0.60743|0.60743	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.16743	.|2.32;2.32;2.32	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.19005|0.19005	0.0456|0.0456	L|L	0.46819|0.46819	1.47|1.47	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B	.|0.11235	.|0.004;0.004	.|B;B	.|0.09377	.|0.002;0.004	T|T	0.01448|0.01448	-1.1352|-1.1352	5|10	.|0.46703	.|T	.|0.11	-13.5243|-13.5243	16.0129|16.0129	0.80417|0.80417	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1877;1877	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	V|S	243|1877;1879;1877;1304	.|ENSP00000450697:R1877S;ENSP00000382269:R1877S;ENSP00000451860:R1304S	.|ENSP00000261312:R1879S	E|R	-|-	2|3	0|2	HECTD1|HECTD1	30653285|30653285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.501000|3.501000	0.53325|0.53325	2.184000|2.184000	0.69523|0.69523	0.482000|0.482000	0.46254|0.46254	GAG|AGA		0.249	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			6	6	0	0	0	0.001984	0	6	6				
AKAP6	9472	broad.mit.edu	37	14	33292940	33292940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:33292940G>T	ENST00000280979.4	+	13	6091	c.5921G>T	c.(5920-5922)aGc>aTc	p.S1974I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1974					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAAATCAAAGCACTGCCTCT	0.388																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5920-5922)AGC>ATC		A-kinase anchor protein 6							72.0	73.0	72.0					14																	33292940		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292940G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5921G>T	14.37:g.33292940G>T	ENSP00000280979:p.Ser1974Ile						p.S1974I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6091	+	Breast(36;0.0388)|Prostate(35;0.15)		1974					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5921G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539706	0.27563	.	.	ENSG00000151320	ENST00000280979	T	0.47869	0.83	6.11	1.11	0.20524	.	0.553031	0.21008	N	0.081728	T	0.37156	0.0993	L	0.51422	1.61	0.09310	N	0.999999	B	0.31054	0.306	B	0.27500	0.08	T	0.27123	-1.0083	10	0.62326	D	0.03	0.0501	8.3883	0.32514	0.1877:0.4731:0.3392:0.0	.	1974	Q13023	AKAP6_HUMAN	I	1974	ENSP00000280979:S1974I	ENSP00000280979:S1974I	S	+	2	0	AKAP6	32362691	0.002000	0.14202	0.139000	0.22197	0.961000	0.63080	0.626000	0.24492	0.137000	0.18759	0.655000	0.94253	AGC		0.388	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		36	44	1	0	6.29468e-14	0.004878	8.23118e-14	36	44				
DPPA3P2	400206	broad.mit.edu	37	14	36841088	36841088	+	RNA	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:36841088T>C	ENST00000557188.1	+	0	719									developmental pluripotency associated 3 pseudogene 2																		ACCAAGCCACTTCAGCCATAA	0.378																																							uc001wtp.2		NA																	0					NA						c.(469-471)CTT>CCT		stella																																						0							g.chr14:36841088T>C			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841088T>C							p.L157P	NM_199286	NP_954980					1	719	+									Missense_Mutation	SNP	ENST00000557188.1	37	c.470T>C																																																																																					0.378	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			71	277	0	0	0	0.00361	0	71	277				
L2HGDH	79944	broad.mit.edu	37	14	50778849	50778849	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:50778849T>C	ENST00000267436.4	-	1	417	c.20A>G	c.(19-21)tAt>tGt	p.Y7C	L2HGDH_ENST00000555610.1_Missense_Mutation_p.Y7C|ATP5S_ENST00000426751.2_5'Flank|ATP5S_ENST00000245448.6_5'Flank|L2HGDH_ENST00000555423.1_Missense_Mutation_p.Y7C|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000421284.3_Missense_Mutation_p.Y7C|ATP5S_ENST00000311459.7_5'Flank|L2HGDH_ENST00000261699.4_Missense_Mutation_p.Y7C			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	7					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ACCAACCAAATAACGCAGCGC	0.687											OREG0022670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001wxu.2		NA																	0				ovary(2)	2						c.(19-21)TAT>TGT		L-2-hydroxyglutarate dehydrogenase precursor							27.0	27.0	27.0					14																	50778849		2199	4296	6495	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50778849T>C		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.20A>G	14.37:g.50778849T>C	ENSP00000267436:p.Tyr7Cys		OREG0022670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	972	L2HGDH_uc010tqn.1_Missense_Mutation_p.Y7C|L2HGDH_uc010tqo.1_Missense_Mutation_p.Y7C|ATP5S_uc001wxv.2_5'Flank|ATP5S_uc001wxw.1_5'Flank|ATP5S_uc001wxx.1_5'Flank	p.Y7C	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN			1	99	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		7					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.20A>G	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767417	0.49574	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000557131;ENST00000555423;ENST00000555610	D;D;D;D;D	0.93488	-3.15;-3.23;-3.23;-2.64;-2.44	4.44	3.26	0.37387	.	0.380216	0.26979	N	0.021537	D	0.88782	0.6530	N	0.19112	0.55	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.49708	0.62;0.498	T	0.81974	-0.0687	10	0.87932	D	0	-5.2619	7.2576	0.26185	0.1964:0.0:0.0:0.8036	.	7;7	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	C	7	ENSP00000261699:Y7C;ENSP00000267436:Y7C;ENSP00000405559:Y7C;ENSP00000450494:Y7C;ENSP00000452483:Y7C	ENSP00000261699:Y7C	Y	-	2	0	L2HGDH	49848599	0.056000	0.20664	0.103000	0.21229	0.019000	0.09904	1.030000	0.30153	0.996000	0.38943	0.459000	0.35465	TAT		0.687	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		10	6	0	0	0	0.000978	0	10	6				
TRIM9	114088	broad.mit.edu	37	14	51475904	51475904	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:51475904C>A	ENST00000298355.3	-	5	2321	c.1200G>T	c.(1198-1200)tgG>tgT	p.W400C	TRIM9_ENST00000338969.5_Missense_Mutation_p.W400C|TRIM9_ENST00000360392.4_Missense_Mutation_p.W400C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	400	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGCCTTTACCCCACTGATCCT	0.493																																							uc001wyx.3		NA																	0				skin(2)|lung(1)	3						c.(1198-1200)TGG>TGT		tripartite motif protein 9 isoform 1							186.0	136.0	153.0					14																	51475904		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51475904C>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1200G>T	14.37:g.51475904C>A	ENSP00000298355:p.Trp400Cys					TRIM9_uc001wyy.2_Missense_Mutation_p.W400C|TRIM9_uc001wyz.3_Missense_Mutation_p.W400C	p.W400C	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			5	1965	-	all_epithelial(31;0.00418)|Breast(41;0.148)		400			COS.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.1200G>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744446	0.69418	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.71341	-0.4;-0.56;0.5	5.94	5.94	0.96194	COS domain (1);	0.000000	0.85682	D	0.000000	D	0.84065	0.5390	M	0.76574	2.34	0.80722	D	1	D;P;D	0.89917	1.0;0.926;1.0	D;P;D	0.97110	1.0;0.816;0.984	T	0.80402	-0.1397	10	0.29301	T	0.29	.	19.3618	0.94442	0.0:1.0:0.0:0.0	.	400;400;400	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	C	400	ENSP00000298355:W400C;ENSP00000342970:W400C;ENSP00000353561:W400C	ENSP00000298355:W400C	W	-	3	0	TRIM9	50545654	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.776000	0.85560	2.820000	0.97059	0.650000	0.86243	TGG		0.493	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		22	44	1	0	3.10358e-05	0.002299	3.37399e-05	22	44				
GNG2	54331	broad.mit.edu	37	14	52417474	52417474	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:52417474C>A	ENST00000335281.4	+	2	484	c.78C>A	c.(76-78)gaC>gaA	p.D26E	GNG2_ENST00000556752.1_Missense_Mutation_p.D26E|GNG2_ENST00000556766.1_Missense_Mutation_p.D26E|GNG2_ENST00000554875.1_Missense_Mutation_p.D55E|GNG2_ENST00000555472.1_Missense_Mutation_p.D26E|GNG2_ENST00000553432.1_Missense_Mutation_p.D57E|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Missense_Mutation_p.D65E|GNG2_ENST00000554736.1_Missense_Mutation_p.D26E	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	26					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	CCAATATCGACAGGATAAAGG	0.493																																							uc001wzi.2		NA																	0					0						c.(76-78)GAC>GAA		guanine nucleotide binding protein (G protein),	Halothane(DB01159)						110.0	85.0	94.0					14																	52417474		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52417474C>A	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.78C>A	14.37:g.52417474C>A	ENSP00000334448:p.Asp26Glu					GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_Intron|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.D26E	p.D26E	NM_053064	NP_444292	P59768	GBG2_HUMAN			3	607	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		26					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.78C>A	CCDS32082.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265616	0.23136	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000553560;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752;ENST00000554875	T;T;T;T;T;T;T;T;T	0.27557	2.46;2.46;1.66;2.46;2.46;2.46;2.46;2.46;1.66	5.03	-3.33	0.04958	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.10809	0.0264	.	.	.	0.21604	N	0.999623	B	0.15141	0.012	B	0.14578	0.011	T	0.35748	-0.9776	9	0.02654	T	1	-21.3824	11.7774	0.51993	0.0:0.4216:0.0:0.5784	.	26	P59768	GBG2_HUMAN	E	57;65;26;26;26;26;26;26;55	ENSP00000451279:D57E;ENSP00000450758:D65E;ENSP00000450586:D26E;ENSP00000334448:D26E;ENSP00000451102:D26E;ENSP00000451231:D26E;ENSP00000452014:D26E;ENSP00000451576:D26E;ENSP00000451536:D55E	ENSP00000334448:D26E	D	+	3	2	GNG2	51487224	0.979000	0.34478	0.936000	0.37596	0.998000	0.95712	0.165000	0.16564	-0.546000	0.06216	0.655000	0.94253	GAC		0.493	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1			13	32	1	0	2.27111e-07	0.001368	2.59901e-07	13	32				
BMP4	652	broad.mit.edu	37	14	54416818	54416818	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:54416818C>T	ENST00000245451.4	-	4	1552	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Missense_Mutation_p.D387N|BMP4_ENST00000417573.1_Missense_Mutation_p.D387N|BMP4_ENST00000559087.1_Missense_Mutation_p.D387N	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	387					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TCATACTCATCCAGGTACAGC	0.483																																							uc001xal.3		NA																	0					0						c.(1159-1161)GAT>AAT		bone morphogenetic protein 4 preproprotein							166.0	147.0	154.0					14																	54416818		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54416818C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1159G>A	14.37:g.54416818C>T	ENSP00000245451:p.Asp387Asn					BMP4_uc010aoh.2_Missense_Mutation_p.D387N|BMP4_uc001xao.3_Missense_Mutation_p.D387N|BMP4_uc001xan.3_Missense_Mutation_p.D387N	p.D387N	NM_130851	NP_570912	P12644	BMP4_HUMAN			3	1346	-			387					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.1159G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435161	0.83885	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	D;D	0.85171	-1.95;-1.95	5.4	5.4	0.78164	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90229	0.6945	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90219	0.4270	10	0.59425	D	0.04	.	18.3323	0.90274	0.0:1.0:0.0:0.0	.	387	P12644	BMP4_HUMAN	N	387	ENSP00000245451:D387N;ENSP00000394165:D387N	ENSP00000245451:D387N	D	-	1	0	BMP4	53486568	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.644000	0.83416	2.813000	0.96785	0.561000	0.74099	GAT		0.483	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		57	74	0	0	0	0.00361	0	57	74				
DLGAP5	9787	broad.mit.edu	37	14	55625362	55625362	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55625362C>G	ENST00000247191.2	-	14	1967	c.1751G>C	c.(1750-1752)aGa>aCa	p.R584T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R584T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	584					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCTCTCTCTCATTGCATT	0.393																																							uc001xbs.2		NA																	0				ovary(1)|skin(1)	2						c.(1750-1752)AGA>ACA		discs large homolog 7 isoform a							121.0	108.0	112.0					14																	55625362		2202	4300	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55625362C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1751G>C	14.37:g.55625362C>G	ENSP00000247191:p.Arg584Thr					DLGAP5_uc001xbt.2_Missense_Mutation_p.R584T	p.R584T	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			14	1968	-			584					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1751G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844345	0.51164	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.18016	2.24;2.24	5.09	2.24	0.28232	.	0.546663	0.18974	N	0.126067	T	0.33731	0.0873	M	0.71581	2.175	0.23991	N	0.996245	D;D	0.67145	0.996;0.996	D;D	0.68765	0.96;0.928	T	0.06770	-1.0808	10	0.38643	T	0.18	.	7.8404	0.29395	0.0:0.6566:0.0:0.3434	.	584;584	A8MTM6;Q15398	.;DLGP5_HUMAN	T	584	ENSP00000378815:R584T;ENSP00000247191:R584T	ENSP00000247191:R584T	R	-	2	0	DLGAP5	54695115	0.109000	0.22037	0.950000	0.38849	0.738000	0.42128	0.005000	0.13129	0.370000	0.24538	-0.150000	0.13652	AGA		0.393	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		34	31	0	0	0	0.003755	0	34	31				
FBXO34	55030	broad.mit.edu	37	14	55818810	55818810	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55818810C>G	ENST00000313833.4	+	2	1947	c.1702C>G	c.(1702-1704)Ctt>Gtt	p.L568V	FBXO34_ENST00000440021.1_Missense_Mutation_p.L568V	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	568										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AATCCAGCAGCTTTTGGAGCC	0.468																																							uc001xbu.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1702-1704)CTT>GTT		F-box only protein 34							90.0	89.0	90.0					14																	55818810		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818810C>G	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1702C>G	14.37:g.55818810C>G	ENSP00000313159:p.Leu568Val					FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.L568V	p.L568V	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	1947	+			568					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1702C>G	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320749	0.81469	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.29397	1.57;1.57	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000001	T	0.60051	0.2239	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59904	-0.7366	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	568	Q9NWN3	FBX34_HUMAN	V	568	ENSP00000313159:L568V;ENSP00000394117:L568V	ENSP00000313159:L568V	L	+	1	0	FBXO34	54888563	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.070000	0.71220	2.865000	0.98341	0.655000	0.94253	CTT		0.468	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			37	69	0	0	0	0.004289	0	37	69				
ATG14	22863	broad.mit.edu	37	14	55848823	55848823	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55848823T>G	ENST00000247178.5	-	6	769	c.734A>C	c.(733-735)tAc>tCc	p.Y245S		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	245					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TCCTGAGAGGTAAGTTGTCCT	0.537																																							uc001xbx.1		NA																	0					0						c.(733-735)TAC>TCC		Barkor							179.0	151.0	161.0					14																	55848823		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848823T>G	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.734A>C	14.37:g.55848823T>G	ENSP00000247178:p.Tyr245Ser					FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.Y132S	p.Y245S	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			6	770	-			245					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.734A>C	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	t	18.65	3.670410	0.67814	.	.	ENSG00000126775	ENST00000247178	T	0.34667	1.35	5.87	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.57653	-0.7774	10	0.87932	D	0	-10.9585	12.2301	0.54482	0.1277:0.0:0.0:0.8723	.	245	Q6ZNE5	BAKOR_HUMAN	S	245	ENSP00000247178:Y245S	ENSP00000247178:Y245S	Y	-	2	0	ATG14	54918576	1.000000	0.71417	0.156000	0.22583	0.533000	0.34776	7.834000	0.86773	0.998000	0.38996	0.528000	0.53228	TAC		0.537	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		20	106	0	0	0	0.010504	0	20	106				
ATG14	22863	broad.mit.edu	37	14	55848839	55848839	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:55848839C>A	ENST00000247178.5	-	6	753	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	240					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTCCTCCGGGCTTCAGCAAGC	0.522																																							uc001xbx.1		NA																	0					0						c.(718-720)GCC>TCC		Barkor							158.0	136.0	144.0					14																	55848839		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848839C>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.718G>T	14.37:g.55848839C>A	ENSP00000247178:p.Ala240Ser					FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.A127S	p.A240S	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			6	754	-			240					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.718G>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.917937	0.92249	.	.	ENSG00000126775	ENST00000247178	T	0.52526	0.66	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71391	-0.4607	10	0.87932	D	0	-22.0567	16.6775	0.85283	0.0:0.8704:0.1296:0.0	.	240	Q6ZNE5	BAKOR_HUMAN	S	240	ENSP00000247178:A240S	ENSP00000247178:A240S	A	-	1	0	ATG14	54918592	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	7.618000	0.83043	1.367000	0.46095	0.650000	0.86243	GCC		0.522	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		59	50	1	0	8.52622e-23	0.00361	1.30871e-22	59	50				
PELI2	57161	broad.mit.edu	37	14	56757024	56757024	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:56757024G>T	ENST00000267460.4	+	5	832	c.546G>T	c.(544-546)atG>atT	p.M182I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	182	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ACGGCCACATGGATGGGCTCA	0.537																																							uc001xch.2		NA																	0				ovary(1)	1						c.(544-546)ATG>ATT		pellino 2							89.0	96.0	94.0					14																	56757024		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56757024G>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.546G>T	14.37:g.56757024G>T	ENSP00000267460:p.Met182Ile						p.M182I	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			5	832	+			182					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.546G>T	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158340	0.57368	.	.	ENSG00000139946	ENST00000267460	T	0.39997	1.05	5.51	5.51	0.81932	.	0.035040	0.85682	N	0.000000	T	0.56978	0.2022	L	0.48260	1.515	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	T	0.42224	-0.9464	10	0.15066	T	0.55	-40.9445	19.4226	0.94727	0.0:0.0:1.0:0.0	.	182	Q9HAT8	PELI2_HUMAN	I	182	ENSP00000267460:M182I	ENSP00000267460:M182I	M	+	3	0	PELI2	55826777	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.869000	0.99810	2.598000	0.87819	0.561000	0.74099	ATG		0.537	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			27	65	1	0	7.41945e-09	0.005443	8.79241e-09	27	65				
OTX2	5015	broad.mit.edu	37	14	57268602	57268602	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:57268602G>T	ENST00000555006.1	-	4	1129	c.721C>A	c.(721-723)Cag>Aag	p.Q241K	OTX2_ENST00000339475.5_Missense_Mutation_p.Q249K|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.Q241K|RP11-1085N6.6_ENST00000602485.1_lincRNA			P32243	OTX2_HUMAN	orthodenticle homeobox 2	241					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCATATCCCTGGGTGGAAAGA	0.507																																							uc001xcp.2		NA																	0				ovary(1)	1						c.(721-723)CAG>AAG		orthodenticle homeobox 2 isoform b							115.0	113.0	114.0					14																	57268602		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268602G>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.721C>A	14.37:g.57268602G>T	ENSP00000452336:p.Gln241Lys					OTX2_uc010aou.2_Missense_Mutation_p.Q241K|OTX2_uc001xcq.2_Missense_Mutation_p.Q249K	p.Q241K	NM_172337	NP_758840	P32243	OTX2_HUMAN			3	892	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		241					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.721C>A	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066269	0.36470	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006	D;D;D	0.90788	-2.73;-2.71;-2.71	5.65	5.65	0.86999	.	0.000000	0.44285	D	0.000465	D	0.91036	0.7180	M	0.86343	2.81	0.80722	D	1	P;B	0.36683	0.565;0.301	B;B	0.27500	0.08;0.08	D	0.90920	0.4782	10	0.48119	T	0.1	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	249;241	F1T0D1;P32243	.;OTX2_HUMAN	K	249;241;241	ENSP00000343819:Q249K;ENSP00000386185:Q241K;ENSP00000452336:Q241K	ENSP00000343819:Q249K	Q	-	1	0	OTX2	56338355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.436000	0.80404	2.941000	0.99782	0.655000	0.94253	CAG		0.507	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		21	48	1	0	2.32416e-17	0.002299	3.26903e-17	21	48				
DAAM1	23002	broad.mit.edu	37	14	59797982	59797982	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:59797982C>T	ENST00000395125.1	+	13	1639	c.1616C>T	c.(1615-1617)cCc>cTc	p.P539L	DAAM1_ENST00000360909.3_Missense_Mutation_p.P539L|DAAM1_ENST00000351081.1_Missense_Mutation_p.P539L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	539	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCAGGAGGGCCCTTTCCTTCC	0.572																																							uc001xdz.1		NA																	0				ovary(1)	1						c.(1615-1617)CCC>CTC		dishevelled-associated activator of							83.0	86.0	85.0					14																	59797982		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797982C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1616C>T	14.37:g.59797982C>T	ENSP00000378557:p.Pro539Leu					DAAM1_uc001xea.1_Missense_Mutation_p.P539L	p.P539L	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	14	1741	+			539			FH1.|Pro-rich.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1616C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625051	0.66901	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.43294	0.95;0.95;0.95	6.16	6.16	0.99307	.	0.092782	0.85682	D	0.000000	T	0.46580	0.1400	M	0.68593	2.085	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.003	T	0.29150	-1.0021	10	0.25751	T	0.34	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	539;539	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	539	ENSP00000354162:P539L;ENSP00000247170:P539L;ENSP00000378557:P539L	ENSP00000247170:P539L	P	+	2	0	DAAM1	58867735	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.633000	0.54295	2.937000	0.99478	0.650000	0.86243	CCC		0.572	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		15	92	0	0	0	0.006122	0	15	92				
SLC38A6	145389	broad.mit.edu	37	14	61512097	61512097	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:61512097T>G	ENST00000267488.4	+	11	894	c.778T>G	c.(778-780)Ttt>Gtt	p.F260V	SLC38A6_ENST00000354886.2_Missense_Mutation_p.F260V|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F237V	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	260					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GGCTTTTTCATTTCTCTGCCA	0.313																																							uc001xfg.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(778-780)TTT>GTT		solute carrier family 38, member 6							122.0	119.0	120.0					14																	61512097		2203	4300	6503	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61512097T>G	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.778T>G	14.37:g.61512097T>G	ENSP00000267488:p.Phe260Val					SLC38A6_uc001xfh.1_Missense_Mutation_p.F260V|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.F237V	p.F260V	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	11	894	+			260			Helical; (Potential).		C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.778T>G	CCDS9751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.255151|4.255151	0.80135|0.80135	.|.	.|.	ENSG00000139974|ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212|ENST00000533744	T;T;T;T;T|.	0.04809|.	3.55;3.55;3.55;3.55;3.55|.	5.96|5.96	4.8|4.8	0.61643|0.61643	.|.	0.045912|.	0.85682|.	D|.	0.000000|.	T|T	0.79639|0.79639	0.4480|0.4480	M|M	0.90019|0.90019	3.08|3.08	0.54753|0.54753	D|D	0.999982|0.999982	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.82309|0.82309	-0.0521|-0.0521	10|5	0.87932|.	D|.	0|.	-4.1565|-4.1565	12.4519|12.4519	0.55681|0.55681	0.1258:0.0:0.0:0.8742|0.1258:0.0:0.0:0.8742	.|.	237;260;260|.	E7ETF2;Q8IZM9-2;Q8IZM9|.	.;.;S38A6_HUMAN|.	V|Q	260;260;255;237;33|177	ENSP00000346959:F260V;ENSP00000267488:F260V;ENSP00000395851:F255V;ENSP00000413863:F237V;ENSP00000437190:F33V|.	ENSP00000267488:F260V|.	F|H	+|+	1|3	0|2	SLC38A6|SLC38A6	60581850|60581850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.799000|6.799000	0.75160|0.75160	1.035000|1.035000	0.39972|0.39972	0.533000|0.533000	0.62120|0.62120	TTT|CAT		0.313	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			4	35	0	0	0	0.000602	0	4	35				
KCNH5	27133	broad.mit.edu	37	14	63175062	63175062	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:63175062G>T	ENST00000322893.7	-	11	2399	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	711	Calmodulin-binding. {ECO:0000255}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGAACTTCTGGAAGAGCTTT	0.547																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2131-2133)CAG>AAG		potassium voltage-gated channel, subfamily H,							119.0	122.0	121.0					14																	63175062		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175062G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2131C>A	14.37:g.63175062G>T	ENSP00000321427:p.Gln711Lys					KCNH5_uc001xfy.2_3'UTR	p.Q711K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2182	-			711			Calmodulin-binding (Potential).|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2131C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065938	0.76187	.	.	ENSG00000140015	ENST00000322893	T	0.17054	2.3	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	M	0.64404	1.975	0.80722	D	1	P	0.37548	0.599	B	0.38880	0.284	T	0.04781	-1.0927	10	0.08381	T	0.77	.	19.4558	0.94889	0.0:0.0:1.0:0.0	.	711	Q8NCM2	KCNH5_HUMAN	K	711	ENSP00000321427:Q711K	ENSP00000321427:Q711K	Q	-	1	0	KCNH5	62244815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.611000	0.88343	0.655000	0.94253	CAG		0.547	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		42	89	1	0	1.22674e-20	0.00874	1.83206e-20	42	89				
KCNH5	27133	broad.mit.edu	37	14	63416986	63416986	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:63416986C>T	ENST00000322893.7	-	7	1502	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	KCNH5_ENST00000394968.1_Missense_Mutation_p.G354R|KCNH5_ENST00000420622.2_Missense_Mutation_p.G412R|KCNH5_ENST00000394964.2_Missense_Mutation_p.G354R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	412					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCTGGGTCCTCCTTCCCAT	0.468																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1234-1236)GGA>AGA		potassium voltage-gated channel, subfamily H,							148.0	133.0	138.0					14																	63416986		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63416986C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1234G>A	14.37:g.63416986C>T	ENSP00000321427:p.Gly412Arg					KCNH5_uc001xfy.2_Missense_Mutation_p.G412R|KCNH5_uc001xfz.1_Missense_Mutation_p.G354R|KCNH5_uc001xga.2_Missense_Mutation_p.G354R	p.G412R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1285	-			412			Extracellular (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1234G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182653	0.94885	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	6.02	6.02	0.97574	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	M	0.82517	2.595	0.80722	D	1	P;D;D;D	0.76494	0.907;0.997;0.997;0.999	P;D;D;D	0.78314	0.864;0.979;0.979;0.991	D	0.99457	1.0942	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	354;354;412;412	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	R	412;412;354;354	ENSP00000321427:G412R;ENSP00000395439:G412R;ENSP00000378419:G354R;ENSP00000378415:G354R	ENSP00000321427:G412R	G	-	1	0	KCNH5	62486739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	GGA		0.468	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		47	35	0	0	0	0.00361	0	47	35				
SYNE2	23224	broad.mit.edu	37	14	64467393	64467393	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:64467393A>T	ENST00000344113.4	+	28	3806	c.3594A>T	c.(3592-3594)acA>acT	p.T1198T	SYNE2_ENST00000554584.1_Silent_p.T1198T|SYNE2_ENST00000358025.3_Silent_p.T1198T|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1198					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)		AAAGAGACACACTAAAGGAAA	0.308																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3592-3594)ACA>ACT		spectrin repeat containing, nuclear envelope 2							76.0	75.0	75.0					14																	64467393		1815	4067	5882	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.chr14:64467393A>T	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.3594A>T	14.37:g.64467393A>T						SYNE2_uc001xgl.2_Silent_p.T1198T	p.T1198T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	28	3824	+			1198			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3594A>T	CCDS41963.1																																																																																				0.308	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		31	32	0	0	0	0.002096	0	31	32				
ZBTB25	7597	broad.mit.edu	37	14	64954030	64954030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:64954030G>A	ENST00000608382.1	-	3	1110	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000394715.1_Nonsense_Mutation_p.Q307*|ZBTB25_ENST00000555220.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	307					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TCTGGCTGCTGTTCATTCTCC	0.473																																							uc001xhf.2		NA																	0				ovary(1)|skin(1)	2						c.(919-921)CAG>TAG		zinc finger protein 46							120.0	127.0	124.0					14																	64954030		2203	4300	6503	SO:0001587	stop_gained	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64954030G>A	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.919C>T	14.37:g.64954030G>A	ENSP00000476746:p.Gln307*					ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Nonsense_Mutation_p.Q307*	p.Q307*	NM_006977	NP_008908	P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	3	1102	-			307					B3KUX6|Q8IYH9	Nonsense_Mutation	SNP	ENST00000608382.1	37	c.919C>T	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	G	41	8.862869	0.98982	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	.	.	.	6.17	5.28	0.74379	.	0.541948	0.19439	N	0.114222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-1.1131	15.643	0.77020	0.0:0.2593:0.7407:0.0	.	.	.	.	X	307	.	ENSP00000261683:Q307X	Q	-	1	0	ZBTB25	64023783	0.997000	0.39634	0.945000	0.38365	0.951000	0.60555	3.220000	0.51207	1.611000	0.50210	0.655000	0.94253	CAG		0.473	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		54	93	0	0	0	0.00361	0	54	93				
ZFYVE26	23503	broad.mit.edu	37	14	68251091	68251091	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:68251091C>A	ENST00000347230.4	-	20	3724	c.3586G>T	c.(3586-3588)Gtg>Ttg	p.V1196L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1196L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1196					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGATGTGACACCAGTTGGGAA	0.483																																							uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(3586-3588)GTG>TTG		zinc finger, FYVE domain containing 26							223.0	202.0	209.0					14																	68251091		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68251091C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3586G>T	14.37:g.68251091C>A	ENSP00000251119:p.Val1196Leu					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.V1196L	p.V1196L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	20	3725	-			1196					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.3586G>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	5.675	0.309057	0.10733	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.19806	2.26;2.12	5.57	3.37	0.38596	.	0.370407	0.28521	N	0.015060	T	0.11324	0.0276	L	0.39898	1.24	0.29470	N	0.85714	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.33240	-0.9876	10	0.02654	T	1	-9.0081	3.1415	0.06457	0.1324:0.5119:0.2002:0.1555	.	1196;1196	G3V2D8;Q68DK2	.;ZFY26_HUMAN	L	1196;1175;1196	ENSP00000251119:V1196L;ENSP00000450603:V1196L	ENSP00000251119:V1196L	V	-	1	0	ZFYVE26	67320844	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	1.600000	0.36762	1.312000	0.45043	0.655000	0.94253	GTG		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		51	161	1	0	9.53978e-28	0.00361	1.55696e-27	51	161				
ADAM21P1	145241	broad.mit.edu	37	14	70712480	70712480	+	RNA	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:70712480A>T	ENST00000530196.1	-	0	2038					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TCAGGAAGGCAGATGTGTGAC	0.507																																							uc010ttg.1		NA																	0					0						c.(1387-1389)CTG>CAG		SubName: Full=ADAM21-like protein;																																						145241							g.chr14:70712480A>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712480A>T							p.L463Q	NR_003951						1	2039	-									Missense_Mutation	SNP	ENST00000530196.1	37	c.1388T>A																																																																																					0.507	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		25	24	0	0	0	0.00278	0	25	24				
SIPA1L1	26037	broad.mit.edu	37	14	72152348	72152348	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72152348G>C	ENST00000555818.1	+	10	3722	c.3374G>C	c.(3373-3375)cGg>cCg	p.R1125P	SIPA1L1_ENST00000537413.1_Splice_Site_p.R600P|SIPA1L1_ENST00000358550.2_Splice_Site_p.R1125P|SIPA1L1_ENST00000381232.3_Splice_Site_p.R1125P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1125					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTAGAGAGGCGGTAAGTGTGC	0.502																																							uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(3373-3375)CGG>CCG		signal-induced proliferation-associated 1 like							40.0	38.0	39.0					14																	72152348		2203	4300	6503	SO:0001630	splice_region_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152348G>C	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3374+1G>C	14.37:g.72152348G>C						SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1125P|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1125P|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1125P|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R600P	p.R1125P	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3722	+			1125					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3374G>C	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867496	0.51588	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.38	5.38	0.77491	.	0.044516	0.85682	D	0.000000	T	0.63733	0.2536	L	0.51422	1.61	0.80722	D	1	D;B;B;D;B	0.56035	0.974;0.335;0.003;0.974;0.335	P;B;B;P;B	0.58391	0.838;0.084;0.007;0.694;0.113	T	0.59537	-0.7436	10	0.35671	T	0.21	-7.119	17.6559	0.88177	0.0:0.0:1.0:0.0	.	600;1125;600;1125;1125	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	P	1125;1125;1125;600	ENSP00000370630:R1125P;ENSP00000450832:R1125P;ENSP00000351352:R1125P;ENSP00000440682:R600P	ENSP00000351352:R1125P	R	+	2	0	SIPA1L1	71222101	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.368000	0.79567	2.669000	0.90835	0.561000	0.74099	CGG		0.502	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	Missense_Mutation	8	34	0	0	0	0.00308	0	8	34				
RGS6	9628	broad.mit.edu	37	14	72431520	72431520	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72431520A>T	ENST00000553530.1	+	2	219	c.12A>T	c.(10-12)ggA>ggT	p.G4G	RGS6_ENST00000355512.6_Silent_p.G4G|RGS6_ENST00000343854.6_Silent_p.G4G|RGS6_ENST00000556437.1_Silent_p.G4G|RGS6_ENST00000553525.1_Silent_p.G4G|RGS6_ENST00000407322.4_Silent_p.G4G|RGS6_ENST00000555571.1_Silent_p.G4G|RGS6_ENST00000404301.2_Silent_p.G4G|RGS6_ENST00000402788.2_Silent_p.G4G|RGS6_ENST00000406236.4_Silent_p.G4G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	4					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGGCTCAAGGATCCGGGGATC	0.458																																					Ovarian(143;1926 2468 21071 48641)	Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0		p.G4R(1)		upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(10-12)GGA>GGT		regulator of G-protein signalling 6							93.0	95.0	94.0					14																	72431520		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72431520A>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.12A>T	14.37:g.72431520A>T						RGS6_uc010ttn.1_Silent_p.G4G|RGS6_uc001xmx.3_Silent_p.G4G|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.G4G	p.G4G	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	2	535	+			4					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.12A>T	CCDS9808.1																																																																																				0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			39	35	0	0	0	0.00874	0	39	35				
RGS6	9628	broad.mit.edu	37	14	72961950	72961950	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72961950T>A	ENST00000553530.1	+	13	1152	c.945T>A	c.(943-945)gcT>gcA	p.A315A	RGS6_ENST00000355512.6_Silent_p.A315A|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000556437.1_Silent_p.A315A|RGS6_ENST00000553525.1_Silent_p.A315A|RGS6_ENST00000434263.2_Silent_p.A246A|RGS6_ENST00000407322.4_Silent_p.A315A|RGS6_ENST00000555571.1_Silent_p.A315A|RGS6_ENST00000404301.2_Silent_p.A315A|RGS6_ENST00000554782.1_Silent_p.A176A|RGS6_ENST00000402788.2_Silent_p.A315A|RGS6_ENST00000406236.4_Silent_p.A315A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	315	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGACGTTGCTTTGTGGGACA	0.408																																					Ovarian(143;1926 2468 21071 48641)	Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0				upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(943-945)GCT>GCA		regulator of G-protein signalling 6							218.0	193.0	201.0					14																	72961950		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72961950T>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.945T>A	14.37:g.72961950T>A						RGS6_uc010ttn.1_Silent_p.A315A|RGS6_uc001xmx.3_Silent_p.A315A|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.A315A|RGS6_uc010ttp.1_Silent_p.A246A|RGS6_uc001xmz.1_Silent_p.A176A	p.A315A	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	13	1468	+			315			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.945T>A	CCDS9808.1																																																																																				0.408	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			29	60	0	0	0	0.002096	0	29	60				
RGS6	9628	broad.mit.edu	37	14	72961952	72961952	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:72961952T>G	ENST00000553530.1	+	13	1154	c.947T>G	c.(946-948)tTg>tGg	p.L316W	RGS6_ENST00000355512.6_Missense_Mutation_p.L316W|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000556437.1_Missense_Mutation_p.L316W|RGS6_ENST00000553525.1_Missense_Mutation_p.L316W|RGS6_ENST00000434263.2_Missense_Mutation_p.L247W|RGS6_ENST00000407322.4_Missense_Mutation_p.L316W|RGS6_ENST00000555571.1_Missense_Mutation_p.L316W|RGS6_ENST00000404301.2_Missense_Mutation_p.L316W|RGS6_ENST00000554782.1_Missense_Mutation_p.L177W|RGS6_ENST00000402788.2_Missense_Mutation_p.L316W|RGS6_ENST00000406236.4_Missense_Mutation_p.L316W	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	316	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GACGTTGCTTTGTGGGACATA	0.403																																					Ovarian(143;1926 2468 21071 48641)	Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0				upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(946-948)TTG>TGG		regulator of G-protein signalling 6							213.0	189.0	197.0					14																	72961952		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72961952T>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.947T>G	14.37:g.72961952T>G	ENSP00000452331:p.Leu316Trp					RGS6_uc010ttn.1_Missense_Mutation_p.L316W|RGS6_uc001xmx.3_Missense_Mutation_p.L316W|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.L316W|RGS6_uc010ttp.1_Missense_Mutation_p.L247W|RGS6_uc001xmz.1_Missense_Mutation_p.L177W	p.L316W	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	13	1470	+			316			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.947T>G	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294815	0.81025	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.81	5.81	0.92471	G-protein gamma domain (1);	0.058318	0.64402	D	0.000001	T	0.48409	0.1498	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.998;0.99;0.996;0.986	D;P;D;P	0.70016	0.967;0.882;0.951;0.841	T	0.48103	-0.9064	10	0.72032	D	0.01	-10.2014	15.1525	0.72713	0.0:0.0:0.0:1.0	.	247;316;321;316	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	W	316;316;316;316;316;316;316;316;316;288;247;177;177	ENSP00000451030:L316W;ENSP00000450936:L316W;ENSP00000452331:L316W;ENSP00000451855:L316W;ENSP00000347699:L316W;ENSP00000385243:L316W;ENSP00000384218:L316W;ENSP00000384612:L316W;ENSP00000383953:L316W;ENSP00000412144:L247W;ENSP00000451912:L177W	ENSP00000347699:L316W	L	+	2	0	RGS6	72031705	1.000000	0.71417	0.795000	0.32087	0.784000	0.44337	6.999000	0.76283	2.217000	0.71921	0.533000	0.62120	TTG		0.403	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			28	62	0	0	0	0.009535	0	28	62				
DCAF4	26094	broad.mit.edu	37	14	73408452	73408452	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:73408452G>C	ENST00000358377.2	+	5	571		c.e5-1		DCAF4_ENST00000553457.1_Splice_Site|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000353777.3_Intron	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AATAAATATAGATTGCCAGGA	0.368																																							uc001xng.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e5-1		DDB1 and CUL4 associated factor 4 isoform 1							107.0	114.0	112.0					14																	73408452		2203	4300	6503	SO:0001630	splice_region_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73408452G>C	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.352-1G>C	14.37:g.73408452G>C						DCAF4_uc001xnj.2_Splice_Site_p.I118_splice|DCAF4_uc010ttr.1_Splice_Site_p.I96_splice|DCAF4_uc001xnh.2_Splice_Site_p.I18_splice|DCAF4_uc010tts.1_Intron|DCAF4_uc010ttt.1_Splice_Site|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Splice_Site_p.I118_splice	p.I118_splice	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN			5	572	+								B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Splice_Site	SNP	ENST00000358377.2	37	c.352_splice	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	G	8.001	0.755502	0.15846	.	.	ENSG00000119599	ENST00000358377;ENST00000394234;ENST00000555042;ENST00000553457	.	.	.	4.31	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.26121	N	0.980541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6497	0.17610	0.7597:0.0:0.2403:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF4	72478205	1.000000	0.71417	0.003000	0.11579	0.244000	0.25665	3.925000	0.56484	0.184000	0.20083	0.313000	0.20887	.		0.368	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604	Intron	26	72	0	0	0	0.005443	0	26	72				
ALDH6A1	4329	broad.mit.edu	37	14	74541699	74541699	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:74541699T>A	ENST00000553458.1	-	2	168	c.70A>T	c.(70-72)Agt>Tgt	p.S24C	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S24C|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	24					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CAGGTGGGACTGGATTTCACC	0.368																																							uc001xpo.2		NA																	0					0						c.(70-72)AGT>TGT		aldehyde dehydrogenase 6A1 precursor	NADH(DB00157)						103.0	99.0	100.0					14																	74541699		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74541699T>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.70A>T	14.37:g.74541699T>A	ENSP00000450436:p.Ser24Cys					C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Missense_Mutation_p.S24C	p.S24C	NM_005589	NP_005580	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	2	169	-			24					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.70A>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	T	0.049	-1.257435	0.01457	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	T;T	0.76316	-1.01;-1.01	0.158	0.158	0.14942	Aldehyde/histidinol dehydrogenase (1);	0.614780	0.15535	N	0.257242	T	0.44912	0.1316	N	0.08118	0	0.09310	N	1	B;P	0.41214	0.022;0.742	B;B	0.28553	0.001;0.091	T	0.42599	-0.9442	10	0.31617	T	0.26	.	2.5951	0.04852	0.0:0.4685:0.0:0.5315	.	24;24	B4DFS8;Q02252	.;MMSA_HUMAN	C	24	ENSP00000450436:S24C;ENSP00000342564:S24C	ENSP00000342564:S24C	S	-	1	0	ALDH6A1	73611452	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	0.230000	0.17852	0.175000	0.19841	0.172000	0.16884	AGT		0.368	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			11	8	0	0	0	0.000978	0	11	8				
LTBP2	4053	broad.mit.edu	37	14	75078231	75078231	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:75078231C>A	ENST00000261978.4	-	1	803	c.417G>T	c.(415-417)gcG>gcT	p.A139A	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.A139A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	139					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGAGAGCCGGCGCGGCCCGGG	0.751																																							uc001xqa.2		NA																	0				liver(1)|skin(1)	2						c.(415-417)GCG>GCT		latent transforming growth factor beta binding							9.0	14.0	12.0					14																	75078231		1896	3884	5780	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078231C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.417G>T	14.37:g.75078231C>A							p.A139A	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	1	804	-			139					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.417G>T	CCDS9831.1																																																																																				0.751	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		35	39	1	0	6.53348e-20	0.003755	9.60893e-20	35	39				
NRXN3	9369	broad.mit.edu	37	14	79432645	79432645	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:79432645C>A	ENST00000554719.1	+	9	2045	c.1554C>A	c.(1552-1554)acC>acA	p.T518T	NRXN3_ENST00000335750.5_Silent_p.T518T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGGCTTACACCTCCATGCACC	0.498																																							uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1552-1554)ACC>ACA		neurexin 3 isoform 1 precursor							204.0	158.0	174.0					14																	79432645		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79432645C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1554C>A	14.37:g.79432645C>A						NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.T643T	p.T518T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	9	2045	+		Renal(4;0.00876)	891			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1554C>A	CCDS9870.1																																																																																				0.498	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		62	45	1	0	1.80625e-27	0.00361	2.94296e-27	62	45				
NRXN3	9369	broad.mit.edu	37	14	79454368	79454368	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:79454368C>A	ENST00000554719.1	+	12	2518	c.2027C>A	c.(2026-2028)cCc>cAc	p.P676H	NRXN3_ENST00000335750.5_Missense_Mutation_p.P676H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTACTAGGACCCAGTACCACC	0.428																																							uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2026-2028)CCC>CAC		neurexin 3 isoform 1 precursor							76.0	71.0	73.0					14																	79454368		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79454368C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.2027C>A	14.37:g.79454368C>A	ENSP00000451648:p.Pro676His					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.P801H	p.P676H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	12	2518	+		Renal(4;0.00876)	1049			EGF-like 3.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.2027C>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852174	0.91355	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	D;D	0.86694	-2.16;-2.16	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93680	0.7981	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.93062	0.6475	8	.	.	.	.	19.6131	0.95618	0.0:1.0:0.0:0.0	.	1049;676	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	1049;1038;676;676	ENSP00000451648:P676H;ENSP00000338349:P676H	.	P	+	2	0	NRXN3	78524121	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.788000	0.85771	2.652000	0.90054	0.561000	0.74099	CCC		0.428	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		21	20	1	0	3.62473e-10	0.001882	4.41729e-10	21	20				
KCNK10	54207	broad.mit.edu	37	14	88729877	88729877	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:88729877G>T	ENST00000340700.5	-	2	507	c.56C>A	c.(55-57)gCa>gAa	p.A19E	KCNK10_ENST00000319231.5_Missense_Mutation_p.A24E|KCNK10_ENST00000312350.5_Missense_Mutation_p.A24E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	19					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCACACCGGTGCTGCTGCGGG	0.562																																							uc001xwo.2		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(55-57)GCA>GAA		potassium channel, subfamily K, member 10							27.0	32.0	30.0					14																	88729877		2193	4283	6476	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729877G>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.56C>A	14.37:g.88729877G>T	ENSP00000343104:p.Ala19Glu					KCNK10_uc001xwm.2_Missense_Mutation_p.A24E|KCNK10_uc001xwn.2_Missense_Mutation_p.A24E	p.A19E	NM_021161	NP_066984	P57789	KCNKA_HUMAN			2	513	-			19			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.56C>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852784	0.32699	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.91011	-2.75;-2.77;-2.7;0.85	5.86	3.05	0.35203	.	0.810184	0.11833	N	0.525057	D	0.83413	0.5249	L	0.29908	0.895	0.21553	N	0.999647	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.73990	-0.3808	10	0.72032	D	0.01	.	5.9424	0.19199	0.263:0.0:0.6115:0.1255	.	19;24;24	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	E	19;24;24;7	ENSP00000343104:A19E;ENSP00000310568:A24E;ENSP00000312811:A24E;ENSP00000452587:A7E	ENSP00000310568:A24E	A	-	2	0	KCNK10	87799630	0.908000	0.30866	0.352000	0.25734	0.629000	0.37895	0.923000	0.28757	0.939000	0.37446	0.650000	0.86243	GCA		0.562	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		30	45	1	0	1.55811e-20	0.008361	2.32156e-20	30	45				
NRDE2	55051	broad.mit.edu	37	14	90755006	90755006	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:90755006T>A	ENST00000354366.3	-	11	2945	c.2713A>T	c.(2713-2715)Agc>Tgc	p.S905C	NRDE2_ENST00000357904.3_Missense_Mutation_p.S674C	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	905																	TTAGCCAGGCTAATTAGGCGG	0.483																																							uc001xyi.1		NA																	0				ovary(2)|lung(1)	3						c.(2713-2715)AGC>TGC		hypothetical protein LOC55051 isoform 1							62.0	59.0	60.0					14																	90755006		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90755006T>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2713A>T	14.37:g.90755006T>A	ENSP00000346335:p.Ser905Cys					C14orf102_uc010atp.1_Missense_Mutation_p.S410C|C14orf102_uc001xyj.1_Missense_Mutation_p.S674C|C14orf102_uc001xyk.1_Missense_Mutation_p.S97C	p.S905C	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	11	2744	-		all_cancers(154;0.118)	905					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2713A>T	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993150	0.35131	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.34667	1.76;1.35	4.84	4.84	0.62591	.	0.101382	0.64402	D	0.000003	T	0.48677	0.1513	M	0.74881	2.28	0.33562	D	0.597421	D;D	0.65815	0.989;0.995	P;P	0.53185	0.72;0.701	T	0.66416	-0.5929	10	0.59425	D	0.04	-20.2667	9.8905	0.41288	0.0:0.08:0.0:0.92	.	674;905	E9PBK4;Q9H7Z3	.;CN102_HUMAN	C	905;674	ENSP00000346335:S905C;ENSP00000350579:S674C	ENSP00000346335:S905C	S	-	1	0	C14orf102	89824759	0.250000	0.23951	0.054000	0.19295	0.051000	0.14879	1.469000	0.35343	2.038000	0.60285	0.528000	0.53228	AGC		0.483	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		18	16	0	0	0	0.00499	0	18	16				
TTC7B	145567	broad.mit.edu	37	14	91044511	91044511	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:91044511C>A	ENST00000328459.6	-	19	2370	c.2249G>T	c.(2248-2250)cGg>cTg	p.R750L	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.R767L	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	750										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ATACCACCGCCGCGCCTCGTC	0.622																																							uc001xyp.2		NA																	0				ovary(2)	2						c.(2248-2250)CGG>CTG		tetratricopeptide repeat domain 7B							80.0	69.0	73.0					14																	91044511		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91044511C>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2249G>T	14.37:g.91044511C>A	ENSP00000336127:p.Arg750Leu					TTC7B_uc001xyo.2_Missense_Mutation_p.R194L|TTC7B_uc010ats.2_RNA	p.R750L	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			19	2371	-		Melanoma(154;0.222)	750			TPR 9.		Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2249G>T	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.817946	0.50633	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972	T;T;T	0.53640	0.61;0.61;0.61	5.48	2.69	0.31865	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.120586	0.53938	D	0.000048	T	0.23410	0.0566	N	0.10760	0.04	0.44780	D	0.997782	B;B	0.21606	0.058;0.019	B;B	0.26202	0.067;0.011	T	0.03433	-1.1037	10	0.22109	T	0.4	-7.5614	5.9077	0.19010	0.0:0.52:0.0:0.48	.	750;767	Q86TV6;Q86TV6-2	TTC7B_HUMAN;.	L	648;767;750;237	ENSP00000349564:R767L;ENSP00000336127:R750L;ENSP00000451440:R237L	ENSP00000336127:R750L	R	-	2	0	TTC7B	90114264	1.000000	0.71417	0.964000	0.40570	0.513000	0.34164	3.227000	0.51262	0.697000	0.31718	0.655000	0.94253	CGG		0.622	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			13	21	1	0	9.31168e-06	0.001855	1.02091e-05	13	21				
CCDC88C	440193	broad.mit.edu	37	14	91810001	91810001	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:91810001C>A	ENST00000389857.6	-	5	427	c.341G>T	c.(340-342)gGg>gTg	p.G114V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	114					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CATGCTCTTCCCTAGATCAAG	0.478																																							uc010aty.2		NA																	0				ovary(3)	3						c.(340-342)GGG>GTG		DVL-binding protein DAPLE							61.0	65.0	64.0					14																	91810001		2083	4224	6307	SO:0001630	splice_region_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91810001C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.341-1G>T	14.37:g.91810001C>A						CCDC88C_uc010twk.1_Missense_Mutation_p.G78V	p.G114V	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			5	440	-		all_cancers(154;0.0468)	114					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.341G>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288663	0.59976	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.15372	2.43	4.66	3.77	0.43336	.	0.000000	0.46758	U	0.000267	T	0.27832	0.0685	L	0.43152	1.355	0.80722	D	1	D	0.59357	0.985	P	0.59288	0.855	T	0.01205	-1.1419	10	0.49607	T	0.09	.	12.2965	0.54849	0.0:0.9167:0.0:0.0833	.	114	Q9P219	DAPLE_HUMAN	V	114;78	ENSP00000374507:G114V	ENSP00000374507:G114V	G	-	2	0	CCDC88C	90879754	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	2.679000	0.46909	1.098000	0.41479	0.555000	0.69702	GGG		0.478	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	Missense_Mutation	8	12	1	0	1.11149e-13	0.008291	1.44658e-13	8	12				
TRIP11	9321	broad.mit.edu	37	14	92471709	92471709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:92471709G>A	ENST00000267622.4	-	11	2984	c.2611C>T	c.(2611-2613)Cga>Tga	p.R871*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	871					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCCCTGAGTCGTTCCAATTCT	0.413			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2611-2613)CGA>TGA		thyroid hormone receptor interactor 11							138.0	124.0	129.0					14																	92471709		2203	4300	6503	SO:0001587	stop_gained	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471709G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2611C>T	14.37:g.92471709G>A	ENSP00000267622:p.Arg871*					TRIP11_uc010auf.1_Nonsense_Mutation_p.R607*	p.R871*	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3399	-			871			Potential.		B2RUT2|O14689|O15154|O95949	Nonsense_Mutation	SNP	ENST00000267622.4	37	c.2611C>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.20|18.20	3.571055|3.571055	0.65765|0.65765	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	.|.	.|.	.|.	6.04|6.04	2.02|2.02	0.26589|0.26589	.|.	0.129740|.	0.52532|.	D|.	0.000067|.	.|T	.|0.54191	.|0.1843	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62201	.|-0.6904	.|3	0.02654|.	T|.	1|.	.|.	12.2294|12.2294	0.54478|0.54478	0.0:0.1107:0.544:0.3453|0.0:0.1107:0.544:0.3453	.|.	.|.	.|.	.|.	X|M	871;607|586	.|.	ENSP00000267622:R871X|.	R|T	-|-	1|2	2|0	TRIP11|TRIP11	91541462|91541462	1.000000|1.000000	0.71417|0.71417	0.055000|0.055000	0.19348|0.19348	0.001000|0.001000	0.01503|0.01503	1.658000|1.658000	0.37376|0.37376	0.432000|0.432000	0.26286|0.26286	-1.134000|-1.134000	0.01955|0.01955	CGA|ACG		0.413	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			29	41	0	0	0	0.003271	0	29	41				
SLC24A4	123041	broad.mit.edu	37	14	92792257	92792257	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:92792257G>T	ENST00000532405.1	+	2	402	c.176G>T	c.(175-177)tGg>tTg	p.W59L	SLC24A4_ENST00000531433.1_Missense_Mutation_p.W59L|SLC24A4_ENST00000298877.1_Missense_Mutation_p.W42L|SLC24A4_ENST00000351924.5_Missense_Mutation_p.W42L|SLC24A4_ENST00000393265.2_5'UTR			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	59					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCAGACACGTGGAGAAATAGA	0.463																																					NSCLC(10;315 435 10383 28450 38798)	NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NA																	0				breast(2)|ovary(1)	3						c.(124-126)TGG>TTG		solute carrier family 24 member 4 isoform 1							84.0	78.0	80.0					14																	92792257		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92792257G>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.176G>T	14.37:g.92792257G>T	ENSP00000431840:p.Trp59Leu					SLC24A4_uc001yai.2_5'UTR|SLC24A4_uc010twm.1_Missense_Mutation_p.W59L|SLC24A4_uc001yaj.2_Missense_Mutation_p.W42L	p.W42L	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	2	149	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	59			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.125G>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216623	0.22373	.	.	ENSG00000140090	ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T	0.65916	0.23;0.25;-0.16;-0.18	5.71	5.71	0.89125	.	0.234460	0.41097	D	0.000955	T	0.44265	0.1285	N	0.14661	0.345	0.50171	D	0.999853	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.37911	-0.9685	10	0.09338	T	0.73	.	16.7743	0.85547	0.0:0.0:1.0:0.0	.	59;59	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	L	59;59;42;42	ENSP00000433302:W59L;ENSP00000431840:W59L;ENSP00000298877:W42L;ENSP00000337789:W42L	ENSP00000298877:W42L	W	+	2	0	SLC24A4	91862010	1.000000	0.71417	0.979000	0.43373	0.939000	0.58152	5.329000	0.65892	2.698000	0.92095	0.561000	0.74099	TGG		0.463	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		6	4	1	0	5.9392e-07	0.001168	6.68982e-07	6	4				
UNC79	57578	broad.mit.edu	37	14	94044382	94044382	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94044382C>T	ENST00000393151.2	+	18	2406	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	UNC79_ENST00000553484.1_Silent_p.I802I|UNC79_ENST00000256339.4_Silent_p.I625I|UNC79_ENST00000555664.1_Silent_p.I802I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	802					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTGTTTCATCCTCATGTTTG	0.408																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1873-1875)ATC>ATT		hypothetical protein LOC57578							119.0	112.0	114.0					14																	94044382		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94044382C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2406C>T	14.37:g.94044382C>T						KIAA1409_uc001ybs.1_Silent_p.I625I	p.I625I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	15	1958	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	802					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1875C>T																																																																																					0.408	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		15	24	0	0	0	0.003163	0	15	24				
UNC79	57578	broad.mit.edu	37	14	94046646	94046646	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94046646A>T	ENST00000393151.2	+	19	2585	c.2585A>T	c.(2584-2586)cAg>cTg	p.Q862L	UNC79_ENST00000553484.1_Missense_Mutation_p.Q862L|UNC79_ENST00000256339.4_Missense_Mutation_p.Q685L|UNC79_ENST00000555664.1_Missense_Mutation_p.Q862L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	862					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AACTTATGTCAGTCTAGTATC	0.468																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(2053-2055)CAG>CTG		hypothetical protein LOC57578							102.0	111.0	108.0					14																	94046646		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94046646A>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2585A>T	14.37:g.94046646A>T	ENSP00000376858:p.Gln862Leu					KIAA1409_uc001ybs.1_Missense_Mutation_p.Q685L	p.Q685L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	16	2137	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	862					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2054A>T		.	.	.	.	.	.	.	.	.	.	A	25.0	4.591758	0.86953	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.43152	1.355	0.54753	D	0.99998	D	0.53745	0.962	D	0.66716	0.946	T	0.16424	-1.0403	10	0.87932	D	0	-14.3666	14.9032	0.70696	1.0:0.0:0.0:0.0	.	862	C9JQL1	.	L	685;862;862;862;862	ENSP00000256339:Q685L;ENSP00000450868:Q862L;ENSP00000451360:Q862L;ENSP00000376858:Q862L	ENSP00000256339:Q685L	Q	+	2	0	KIAA1409	93116399	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.079000	0.94032	1.938000	0.56188	0.459000	0.35465	CAG		0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		25	31	0	0	0	0.003954	0	25	31				
UNC79	57578	broad.mit.edu	37	14	94088153	94088153	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94088153G>T	ENST00000393151.2	+	30	4574	c.4574G>T	c.(4573-4575)cGg>cTg	p.R1525L	UNC79_ENST00000553484.1_Missense_Mutation_p.R1547L|UNC79_ENST00000256339.4_Missense_Mutation_p.R1348L|UNC79_ENST00000555664.1_Missense_Mutation_p.R1525L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1525					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCATAGATCGGTGTGACATA	0.453																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(4108-4110)CGG>CTG		hypothetical protein LOC57578							95.0	89.0	91.0					14																	94088153		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088153G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4574G>T	14.37:g.94088153G>T	ENSP00000376858:p.Arg1525Leu					KIAA1409_uc001ybs.1_Missense_Mutation_p.R1348L	p.R1370L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4192	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1525					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4109G>T		.	.	.	.	.	.	.	.	.	.	G	15.70	2.912066	0.52439	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.24538	1.88;1.85;1.88;1.88	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	L	0.32530	0.975	0.49915	D	0.999838	P	0.40302	0.712	B	0.37731	0.257	T	0.01290	-1.1394	10	0.54805	T	0.06	-20.337	14.5913	0.68368	0.0694:0.0:0.9306:0.0	.	1547	C9JQL1	.	L	1348;1525;1547;1525;1547	ENSP00000256339:R1348L;ENSP00000450868:R1525L;ENSP00000451360:R1547L;ENSP00000376858:R1525L	ENSP00000256339:R1348L	R	+	2	0	KIAA1409	93157906	1.000000	0.71417	0.991000	0.47740	0.849000	0.48306	6.424000	0.73366	2.847000	0.97988	0.591000	0.81541	CGG		0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		24	40	1	0	1.10923e-09	0.00278	1.33494e-09	24	40				
UNC79	57578	broad.mit.edu	37	14	94120157	94120157	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94120157C>A	ENST00000393151.2	+	37	6270	c.6270C>A	c.(6268-6270)gcC>gcA	p.A2090A	UNC79_ENST00000553484.1_Silent_p.A2112A|UNC79_ENST00000256339.4_Silent_p.A1913A|UNC79_ENST00000555664.1_Silent_p.A2051A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2090					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCAGTTGGCCCCCAACGGCA	0.552																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(5803-5805)GCC>GCA		hypothetical protein LOC57578							174.0	176.0	175.0					14																	94120157		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94120157C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6270C>A	14.37:g.94120157C>A						KIAA1409_uc001ybs.1_Silent_p.A1913A	p.A1935A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	35	5888	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2090					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.5805C>A																																																																																					0.552	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		112	140	1	0	1.9362e-44	0.00361	3.47689e-44	112	140				
UNC79	57578	broad.mit.edu	37	14	94149022	94149022	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94149022G>A	ENST00000393151.2	+	43	6918	c.6918G>A	c.(6916-6918)atG>atA	p.M2306I	UNC79_ENST00000553484.1_Missense_Mutation_p.M2328I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2129I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2267I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2306					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAAGCAGATGATAGCCTCTG	0.348																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(6451-6453)ATG>ATA		hypothetical protein LOC57578							110.0	96.0	101.0					14																	94149022		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94149022G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6918G>A	14.37:g.94149022G>A	ENSP00000376858:p.Met2306Ile					KIAA1409_uc001ybs.1_Missense_Mutation_p.M2129I	p.M2151I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	41	6536	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2306					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6453G>A		.	.	.	.	.	.	.	.	.	.	G	17.15	3.316128	0.60524	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17854	2.25;2.27;2.25;2.25	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.38531	1.155	0.46416	D	0.99903	P	0.44816	0.844	B	0.42798	0.398	T	0.02301	-1.1180	10	0.18710	T	0.47	-28.7999	19.6662	0.95894	0.0:0.0:1.0:0.0	.	2328	C9JQL1	.	I	2129;2267;2328;2306;2328	ENSP00000256339:M2129I;ENSP00000450868:M2267I;ENSP00000451360:M2328I;ENSP00000376858:M2306I	ENSP00000256339:M2129I	M	+	3	0	KIAA1409	93218775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.807000	0.91935	2.625000	0.88918	0.655000	0.94253	ATG		0.348	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		9	16	0	0	0	0.000978	0	9	16				
UNC79	57578	broad.mit.edu	37	14	94152940	94152940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94152940G>T	ENST00000393151.2	+	44	6959	c.6959G>T	c.(6958-6960)tGt>tTt	p.C2320F	UNC79_ENST00000553484.1_Missense_Mutation_p.C2342F|UNC79_ENST00000256339.4_Missense_Mutation_p.C2143F|UNC79_ENST00000555664.1_Missense_Mutation_p.C2281F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2320					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCGATGGAGTGTGTGAGGCAG	0.522																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(6493-6495)TGT>TTT		hypothetical protein LOC57578							221.0	146.0	172.0					14																	94152940		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94152940G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6959G>T	14.37:g.94152940G>T	ENSP00000376858:p.Cys2320Phe					KIAA1409_uc001ybs.1_Missense_Mutation_p.C2143F	p.C2165F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	42	6577	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2320					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6494G>T		.	.	.	.	.	.	.	.	.	.	G	16.27	3.076203	0.55646	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21734	1.99;2.03;1.99;1.99	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	L	0.59436	1.845	0.80722	D	1	B	0.25312	0.123	B	0.32342	0.144	T	0.05852	-1.0860	10	0.72032	D	0.01	-5.9875	19.7063	0.96072	0.0:0.0:1.0:0.0	.	2342	C9JQL1	.	F	2143;2281;2342;2320;2342	ENSP00000256339:C2143F;ENSP00000450868:C2281F;ENSP00000451360:C2342F;ENSP00000376858:C2320F	ENSP00000256339:C2143F	C	+	2	0	KIAA1409	93222693	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.348000	0.97062	2.833000	0.97629	0.655000	0.94253	TGT		0.522	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		11	24	1	0	1.08611e-07	0.000978	1.2533e-07	11	24				
ASB2	51676	broad.mit.edu	37	14	94401024	94401024	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94401024A>T	ENST00000315988.4	-	8	2230	c.1742T>A	c.(1741-1743)cTg>cAg	p.L581Q	ASB2_ENST00000555019.1_Missense_Mutation_p.L629Q	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	581	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTCGTATTTCAGGTATCTAAT	0.537																																							uc001ycc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1741-1743)CTG>CAG		ankyrin repeat and SOCS box-containing protein							97.0	97.0	97.0					14																	94401024		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94401024A>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1742T>A	14.37:g.94401024A>T	ENSP00000320675:p.Leu581Gln					ASB2_uc001ycb.1_Missense_Mutation_p.L275Q|ASB2_uc001ycd.2_Missense_Mutation_p.L629Q	p.L581Q	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	8	2231	-		all_cancers(154;0.13)	581			SOCS box.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1742T>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574485	0.86542	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988	T;T	0.75154	-0.91;-0.91	5.16	5.16	0.70880	SOCS protein, C-terminal (3);	0.000000	0.64402	D	0.000005	D	0.90971	0.7161	H	0.97240	3.965	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94088	0.7350	10	0.87932	D	0	-13.696	15.0105	0.71547	1.0:0.0:0.0:0.0	.	629;581	B4E166;Q96Q27	.;ASB2_HUMAN	Q	629;597;581	ENSP00000451575:L629Q;ENSP00000320675:L581Q	ENSP00000320675:L581Q	L	-	2	0	ASB2	93470777	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	8.546000	0.90661	1.951000	0.56629	0.402000	0.26972	CTG		0.537	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			23	33	0	0	0	0.00278	0	23	33				
SERPINA10	51156	broad.mit.edu	37	14	94756523	94756523	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:94756523G>T	ENST00000393096.1	-	2	873	c.408C>A	c.(406-408)acC>acA	p.T136T	SERPINA10_ENST00000554173.1_Silent_p.T136T|SERPINA10_ENST00000261994.4_Silent_p.T136T|SERPINA10_ENST00000554723.1_Silent_p.T176T	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	136	Heparin-binding.				blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCCCGGGCTTGGTGGGCTTCA	0.602																																							uc001yct.2		NA																	0				ovary(2)|skin(1)	3						c.(406-408)ACC>ACA		serine (or cysteine) proteinase inhibitor, clade							47.0	52.0	50.0					14																	94756523		2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756523G>T	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.408C>A	14.37:g.94756523G>T						SERPINA10_uc001ycu.3_Silent_p.T136T	p.T136T	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	874	-		all_cancers(154;0.105)	136					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.408C>A	CCDS9923.1																																																																																				0.602	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		23	21	1	0	2.98393e-07	0.00278	3.40668e-07	23	21				
SERPINA4	5267	broad.mit.edu	37	14	95030432	95030432	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95030432G>T	ENST00000557004.1	+	2	1034	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F	SERPINA4_ENST00000555095.1_Missense_Mutation_p.V205F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V205F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	205					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V205F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAAGAAGGACGTCTTGATGGT	0.458																																							uc001ydk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(613-615)GTC>TTC		serine (or cysteine) proteinase inhibitor, clade							152.0	143.0	146.0					14																	95030432		2202	4300	6502	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030432G>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.613G>T	14.37:g.95030432G>T	ENSP00000450838:p.Val205Phe					SERPINA4_uc010avd.2_Missense_Mutation_p.V242F|SERPINA4_uc001ydl.2_Missense_Mutation_p.V205F	p.V205F	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	679	+			205					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.613G>T	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592726	0.46214	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84442	-1.85;-1.85;-1.85	4.41	-1.61	0.08399	Serpin domain (3);	2.428210	0.03122	N	0.163875	D	0.84683	0.5526	L	0.28400	0.85	0.09310	N	1	P;D	0.56521	0.81;0.976	P;P	0.60415	0.602;0.874	T	0.72093	-0.4394	10	0.87932	D	0	.	4.3502	0.11151	0.4731:0.0:0.372:0.1549	.	205;205	B2R815;P29622	.;KAIN_HUMAN	F	205	ENSP00000450838:V205F;ENSP00000451172:V205F;ENSP00000298841:V205F	ENSP00000298841:V205F	V	+	1	0	SERPINA4	94100185	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.587000	0.36622	-0.066000	0.12998	-1.105000	0.02106	GTC		0.458	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		23	53	1	0	5.45024e-15	0.00333	7.30982e-15	23	53				
SERPINA13P	388007	broad.mit.edu	37	14	95108049	95108049	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95108049G>T	ENST00000469935.1	+	0	654					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										CAGGGTCCCCGGCTCCTCCTG	0.632																																							uc001ydt.2		NA																	0				lung(1)|skin(1)	2						c.(565-567)CGG>CTG		RecName: Full=Serpin A13; Flags: Precursor;							46.0	54.0	51.0					14																	95108049		2203	4300	6503			388007							g.chr14:95108049G>T	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95108049G>T							p.R189L	NR_015340						2	654	+									Missense_Mutation	SNP	ENST00000469935.1	37	c.566G>T																																																																																					0.632	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		33	52	1	0	4.23469e-30	0.003271	7.05417e-30	33	52				
DICER1	23405	broad.mit.edu	37	14	95584026	95584026	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95584026C>A	ENST00000526495.1	-	11	1733	c.1442G>T	c.(1441-1443)gGa>gTa	p.G481V	DICER1_ENST00000393063.1_Missense_Mutation_p.G481V|DICER1_ENST00000527414.1_Missense_Mutation_p.G481V|DICER1_ENST00000541352.1_Missense_Mutation_p.G481V|DICER1_ENST00000343455.3_Missense_Mutation_p.G481V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	481	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AATGCCATGTCCAGTTATGAA	0.363			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1441-1443)GGA>GTA		dicer1							174.0	153.0	160.0					14																	95584026		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95584026C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1442G>T	14.37:g.95584026C>A	ENSP00000437256:p.Gly481Val					DICER1_uc001ydv.2_Missense_Mutation_p.G471V|DICER1_uc001ydx.2_Missense_Mutation_p.G481V	p.G481V	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1624	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	481			Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1442G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624407	0.87560	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;0.14	5.17	5.17	0.71159	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83990	0.0337	10	0.66056	D	0.02	-24.5066	19.0708	0.93136	0.0:1.0:0.0:0.0	.	481	Q9UPY3	DICER_HUMAN	V	481	ENSP00000343745:G481V;ENSP00000437256:G481V;ENSP00000376783:G481V;ENSP00000435681:G481V;ENSP00000444719:G481V	ENSP00000343745:G481V	G	-	2	0	DICER1	94653779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.567000	0.86603	0.650000	0.86243	GGA		0.363	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			19	27	1	0	9.95505e-16	0.002299	1.35681e-15	19	27				
SYNE3	161176	broad.mit.edu	37	14	95922041	95922041	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95922041G>A	ENST00000334258.5	-	5	824	c.810C>T	c.(808-810)ccC>ccT	p.P270P	SYNE3_ENST00000554873.1_Silent_p.P27P|SYNE3_ENST00000557275.1_Silent_p.P270P|SYNE3_ENST00000553340.1_Silent_p.P270P	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	270					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCTCGCCCCTGGGAAAATCTT	0.537																																							uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(808-810)CCC>CCT		nesprin-3							54.0	60.0	58.0					14																	95922041		2203	4300	6503	SO:0001819	synonymous_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95922041G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.810C>T	14.37:g.95922041G>A						C14orf49_uc010avi.2_Silent_p.P270P|C14orf49_uc001yej.1_Silent_p.P270P	p.P270P	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	5	825	-		all_cancers(154;0.0937)	270			Spectrin 1.|Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.810C>T	CCDS9935.1																																																																																				0.537	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		32	50	0	0	0	0.002096	0	32	50				
SYNE3	161176	broad.mit.edu	37	14	95942072	95942072	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:95942072G>T	ENST00000334258.5	-	1	101	c.87C>A	c.(85-87)gtC>gtA	p.V29V	SYNE3_ENST00000557275.1_Silent_p.V29V|SYNE3_ENST00000553340.1_Silent_p.V29V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	29					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TGTTGTCATTGACCTGCAGCT	0.657																																							uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(85-87)GTC>GTA		nesprin-3							57.0	41.0	47.0					14																	95942072		2203	4300	6503	SO:0001819	synonymous_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95942072G>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.87C>A	14.37:g.95942072G>T						C14orf49_uc010avi.2_Silent_p.V29V|C14orf49_uc001yej.1_Silent_p.V29V	p.V29V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	1	102	-		all_cancers(154;0.0937)	29			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.87C>A	CCDS9935.1																																																																																				0.657	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		4	15	1	0	0.00024832	0.009096	0.000262719	4	15				
TCL6	27004	broad.mit.edu	37	14	96135931	96135931	+	RNA	SNP	G	G	A	rs145339687		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:96135931G>A	ENST00000467865.1	+	0	1865				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		aaggagaggggaccatgcaaa	0.473			T	TRA@	T-ALL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18691	0.0		0.0	False		,,,				2504	0.0						uc001yeq.2		NA		Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0					0						c.(235-237)GAC>AAC		SubName: Full=T-cell leukemia/lymphoma 6 ORF163;		G		5,4401	9.9+/-24.2	0,5,2198	115.0	94.0	101.0			0.9	0.0	14	dbSNP_134	101	0,8600		0,0,4300	no	intergenic				0,5,6498	AA,AG,GG		0.0,0.1135,0.0384			96135931	5,13001	2203	4300	6503			27004							g.chr14:96135931G>A	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96135931G>A						TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.D21N|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_Intron|TCL6_uc010avk.1_5'Flank	p.D79N	NM_020554	NP_065579				Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	5	1704	+		all_cancers(154;0.103)							Missense_Mutation	SNP	ENST00000467865.1	37	c.235G>A																																																																																					0.473	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		10	19	0	0	0	0.001855	0	10	19				
ATG2B	55102	broad.mit.edu	37	14	96769497	96769497	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:96769497C>A	ENST00000359933.4	-	33	5831	c.4938G>T	c.(4936-4938)caG>caT	p.Q1646H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1646					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTCAAGATCCTGAACAATGA	0.433																																							uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(4936-4938)CAG>CAT		ATG2 autophagy related 2 homolog B							112.0	109.0	110.0					14																	96769497		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96769497C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4938G>T	14.37:g.96769497C>A	ENSP00000353010:p.Gln1646His						p.Q1646H	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	33	5303	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1646					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4938G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903018	0.72754	.	.	ENSG00000066739	ENST00000359933	T	0.11277	2.79	5.65	5.65	0.86999	.	0.137084	0.53938	D	0.000056	T	0.16599	0.0399	L	0.49350	1.555	0.53005	D	0.99996	P	0.49961	0.93	P	0.52710	0.707	T	0.00595	-1.1653	10	0.33940	T	0.23	.	7.7141	0.28694	0.0:0.8071:0.0:0.1929	.	1646	Q96BY7	ATG2B_HUMAN	H	1646	ENSP00000353010:Q1646H	ENSP00000261834:Q290H	Q	-	3	2	ATG2B	95839250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.790000	0.47821	2.824000	0.97209	0.655000	0.94253	CAG		0.433	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		14	21	1	0	0.000151284	0.001855	0.000161292	14	21				
BCL11B	64919	broad.mit.edu	37	14	99640777	99640777	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:99640777T>A	ENST00000357195.3	-	4	2405	c.2396A>T	c.(2395-2397)gAg>gTg	p.E799V	BCL11B_ENST00000443726.2_Missense_Mutation_p.E605V|BCL11B_ENST00000345514.2_Missense_Mutation_p.E728V	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	799					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCGCAGTACTCGCACGTGTC	0.721			T	TLX3	T-ALL																																		uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(2395-2397)GAG>GTG		B-cell CLL/lymphoma 11B isoform 1							26.0	23.0	24.0					14																	99640777		2202	4297	6499	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640777T>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2396A>T	14.37:g.99640777T>A	ENSP00000349723:p.Glu799Val					BCL11B_uc001ygb.2_Missense_Mutation_p.E728V	p.E799V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	2663	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	799			C2H2-type 4.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2396A>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082257	0.76528	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07800	3.16;3.16;3.16	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.259980	0.30639	N	0.009195	T	0.27832	0.0685	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02031	-1.1226	10	0.72032	D	0.01	-15.5178	14.3086	0.66400	0.0:0.0:0.0:1.0	.	728;799	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	V	799;728;605	ENSP00000349723:E799V;ENSP00000280435:E728V;ENSP00000387419:E605V	ENSP00000280435:E728V	E	-	2	0	BCL11B	98710530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.540000	0.82074	1.859000	0.53934	0.459000	0.35465	GAG		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		4	15	0	0	0	0.001168	0	4	15				
DYNC1H1	1778	broad.mit.edu	37	14	102469237	102469237	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:102469237C>A	ENST00000360184.4	+	23	4982	c.4818C>A	c.(4816-4818)gaC>gaA	p.D1606E		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1606	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATTGGCAGACCTGCTAGGAA	0.463																																							uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(4816-4818)GAC>GAA		cytoplasmic dynein 1 heavy chain 1							74.0	73.0	74.0					14																	102469237		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102469237C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4818C>A	14.37:g.102469237C>A	ENSP00000348965:p.Asp1606Glu						p.D1606E	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			23	4982	+			1606			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.4818C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038834	0.35989	.	.	ENSG00000197102	ENST00000360184	T	0.59364	0.27	5.27	3.2	0.36748	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	N	0.20610	0.595	0.58432	D	0.999995	D	0.63880	0.993	P	0.61477	0.889	T	0.50171	-0.8859	10	0.05351	T	0.99	.	9.9826	0.41821	0.0:0.8124:0.0:0.1876	.	1606	Q14204	DYHC1_HUMAN	E	1606	ENSP00000348965:D1606E	ENSP00000348965:D1606E	D	+	3	2	DYNC1H1	101538990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.535000	0.36061	0.445000	0.26639	0.655000	0.94253	GAC		0.463	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		26	21	1	0	5.45024e-15	0.00333	7.30982e-15	26	21				
CDC42BPB	9578	broad.mit.edu	37	14	103405971	103405971	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:103405971C>A	ENST00000361246.2	-	34	5091	c.4803G>T	c.(4801-4803)atG>atT	p.M1601I	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGCACCTGCATGCCGTCGC	0.617																																							uc001ymi.1		NA																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(4801-4803)ATG>ATT		CDC42-binding protein kinase beta							110.0	111.0	111.0					14																	103405971		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103405971C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4803G>T	14.37:g.103405971C>A	ENSP00000355237:p.Met1601Ile						p.M1601I	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	34	5035	-		Melanoma(154;0.155)	1601						Missense_Mutation	SNP	ENST00000361246.2	37	c.4803G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186305	0.21870	.	.	ENSG00000198752	ENST00000361246	T	0.61510	0.1	4.36	4.36	0.52297	PAK-box/P21-Rho-binding (1);	0.079822	0.85682	D	0.000000	T	0.44664	0.1304	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42799	-0.9430	10	0.02654	T	1	.	17.2562	0.87057	0.0:1.0:0.0:0.0	.	1601	Q9Y5S2	MRCKB_HUMAN	I	1601	ENSP00000355237:M1601I	ENSP00000355237:M1601I	M	-	3	0	CDC42BPB	102475724	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.905000	0.69893	2.125000	0.65367	0.655000	0.94253	ATG		0.617	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		30	16	1	0	3.65163e-15	0.00632	4.918e-15	30	16				
CEP170B	283638	broad.mit.edu	37	14	105353375	105353377	+	Missense_Mutation	TNP	GGA	GGA	TAC	rs370917026		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105353375_105353377GGA>TAC	ENST00000414716.3	+	12	3027_3029	c.2799_2801GGA>TAC	c.(2797-2802)gtGGAt>gtTACt	p.D934T	CEP170B_ENST00000418279.1_Missense_Mutation_p.D864T|CEP170B_ENST00000453495.1_Missense_Mutation_p.D935T|CEP170B_ENST00000556508.1_Missense_Mutation_p.D864T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	934						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CTAATTCTGTGGATGCCGAGTGT	0.675																																							uc010axb.2		NA																	0				breast(1)	1						c.(2797-2802)GTGGAT>GTTACT		hypothetical protein LOC283638 isoform 1																																				SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105353375_105353377GGA>TAC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2799_2801GGA>TAC	14.37:g.105353375GGA>TAC	ENSP00000404151:p.Asp934Thr					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.D864T|KIAA0284_uc001yps.2_Missense_Mutation_p.D840T|KIAA0284_uc001ypt.2_5'Flank	p.D934T	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	3023_3025	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	934					Q2KHR7|Q86TI7	Missense_Mutation	TNP	ENST00000414716.3	37	c.2799_2801GGA>TAC	CCDS45175.1																																																																																				0.675	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		7	13	0	0	0	0.004672	0	7	13				
CEP170B	283638	broad.mit.edu	37	14	105353403	105353403	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105353403C>T	ENST00000414716.3	+	12	3055	c.2827C>T	c.(2827-2829)Ccg>Tcg	p.P943S	CEP170B_ENST00000418279.1_Missense_Mutation_p.P873S|CEP170B_ENST00000453495.1_Missense_Mutation_p.P944S|CEP170B_ENST00000556508.1_Missense_Mutation_p.P873S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	943						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGGCAGCACCCCGAGGCCGCC	0.687																																							uc010axb.2		NA																	0				breast(1)	1						c.(2827-2829)CCG>TCG		hypothetical protein LOC283638 isoform 1							28.0	40.0	36.0					14																	105353403		2034	4159	6193	SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105353403C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2827C>T	14.37:g.105353403C>T	ENSP00000404151:p.Pro943Ser					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.P873S|KIAA0284_uc001yps.2_Missense_Mutation_p.P849S|KIAA0284_uc001ypt.2_5'Flank	p.P943S	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	3051	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	943					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2827C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172972	0.21704	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.50277	0.77;0.78;0.75;0.79	4.48	2.62	0.31277	.	0.530315	0.19991	N	0.101558	T	0.61800	0.2376	M	0.71036	2.16	0.09310	N	1	P;D;D	0.76494	0.698;0.999;0.999	B;D;D	0.68943	0.284;0.915;0.961	T	0.51647	-0.8679	10	0.45353	T	0.12	-6.6722	8.848	0.35181	0.2549:0.4681:0.277:0.0	.	943;943;873	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	S	873;943;944;873	ENSP00000451249:P873S;ENSP00000404151:P943S;ENSP00000407238:P944S;ENSP00000415006:P873S	ENSP00000404151:P943S	P	+	1	0	KIAA0284	104424448	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	1.094000	0.30951	0.322000	0.23283	-0.334000	0.08254	CCG		0.687	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		11	14	0	0	0	0.002299	0	11	14				
CRIP2	1397	broad.mit.edu	37	14	105945464	105945464	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:105945464G>A	ENST00000329146.4	+	6	1122	c.409G>A	c.(409-411)Gag>Aag	p.E137K	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.E211K	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	137	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		CTTTCCAGCTGAGAAGGTGAC	0.736																																							uc001yrd.1		NA																	0					0						c.(409-411)GAG>AAG		cysteine-rich protein 2							17.0	21.0	19.0					14																	105945464		2154	4219	6373	SO:0001583	missense	1397						zinc ion binding	g.chr14:105945464G>A		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.409G>A	14.37:g.105945464G>A	ENSP00000328521:p.Glu137Lys					CRIP2_uc010tyr.1_Missense_Mutation_p.E211K|CRIP2_uc001yre.1_Missense_Mutation_p.E137K|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	p.E137K	NM_001312	NP_001303	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	6	478	+		Melanoma(154;0.226)	137			LIM zinc-binding 2.		A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	ENST00000329146.4	37	c.409G>A	CCDS10003.1	.	.	.	.	.	.	.	.	.	.	g	31	5.087650	0.94100	.	.	ENSG00000182809	ENST00000483017;ENST00000329146	T;T	0.60424	0.19;0.19	3.7	3.7	0.42460	Zinc finger, LIM-type (5);	0.000000	0.48286	U	0.000195	T	0.79287	0.4420	M	0.90198	3.095	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.87578	0.992;0.998;0.989	D	0.84625	0.0686	10	0.87932	D	0	-0.4489	14.2005	0.65699	0.0:0.0:1.0:0.0	.	211;137;137	B7Z6C0;Q53FN1;P52943	.;.;CRIP2_HUMAN	K	211;137	ENSP00000426119:E211K;ENSP00000328521:E137K	ENSP00000328521:E137K	E	+	1	0	CRIP2	105016509	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	9.205000	0.95048	1.902000	0.55061	0.282000	0.19409	GAG		0.736	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		17	5	0	0	0	0.007413	0	17	5				
HERC2P3	283755	broad.mit.edu	37	15	20645832	20645832	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:20645832G>A	ENST00000428453.1	-	0	2933							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTGCAGCGTGAGAGCGATGC	0.617																																							uc001ytg.2		NA																	0					NA						c.(2242-2244)CTC>CTT		RecName: Full=Putative HERC2-like protein 3;							61.0	40.0	47.0					15																	20645832		2198	4275	6473			0							g.chr15:20645832G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20645832G>A						uc010tyx.1_RNA|uc001yth.3_Silent_p.L748L|uc010tyy.1_Silent_p.L748L	p.L748L							20	2953	-									Silent	SNP	ENST00000428453.1	37	c.2244C>T																																																																																					0.617	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		9	40	0	0	0	0.004482	0	9	40				
CXADRP2	646243	broad.mit.edu	37	15	22016402	22016402	+	IGR	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:22016402C>A								DKFZP547L112 (4352 upstream) : MIR3118-6 (32871 downstream)																							CCAGCTGAATCTTCCTATTTG	0.378																																							uc010tzk.1		NA																	0					0						c.(313-315)AAG>AAT		RecName: Full=Coxsackievirus and adenovirus receptor; AltName: Full=Coxsackievirus B-adenovirus receptor; AltName: Full=HCVADR;          Short=hCAR; AltName: Full=CVB3-binding protein; Flags: Precursor;																																				SO:0001628	intergenic_variant	646243							g.chr15:22016402C>A																													15.37:g.22016402C>A							p.K105N	NR_024387						1	477	-									Missense_Mutation	SNP		37	c.315G>T																																																																																				0	0.378									5	40	1	0	4.096e-09	0.001168	4.8869e-09	5	40				
OR4N4	283694	broad.mit.edu	37	15	22383042	22383042	+	Silent	SNP	C	C	A	rs375638826		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:22383042C>A	ENST00000328795.4	+	1	661	c.570C>A	c.(568-570)acC>acA	p.T190T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGCTTGCACCGACATGTTTG	0.527																																							uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(568-570)ACC>ACA		olfactory receptor, family 4, subfamily N,							101.0	81.0	88.0					15																	22383042		2189	4260	6449	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383042C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.570C>A	15.37:g.22383042C>A						LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.T190T	p.T190T	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1551	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	190			Extracellular (Potential).		Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.570C>A	CCDS32173.1																																																																																				0.527	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			16	23	1	0	7.41877e-09	0.001882	8.79241e-09	16	23				
OR4N3P	390539	broad.mit.edu	37	15	22413817	22413818	+	IGR	DNP	CC	CC	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:22413817_22413818CC>AA								RP11-69H14.6 (30009 upstream) : RP11-2F9.4 (20071 downstream)																							GTTGTGATGGCCTTTGACCGCT	0.5																																							uc001yuf.2		NA																	0					0						c.(115-117)GCC>GAA		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22413817_22413818CC>AA																													15.37:g.22413817_22413818delinsAA							p.A39E	NM_001080841	NP_001074310					1	116_117	+									Missense_Mutation	DNP		37	c.116_117CC>AA																																																																																				0	0.500									40	80	0	0	0	0.004672	0	40	80				
NPAP1	23742	broad.mit.edu	37	15	24921679	24921679	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24921679G>T	ENST00000329468.2	+	1	1139	c.665G>T	c.(664-666)aGt>aTt	p.S222I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	222					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AACAGCATGAGTGAGAAGGCC	0.617																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(664-666)AGT>ATT		hypothetical protein LOC23742							36.0	37.0	37.0					15																	24921679		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921679G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.665G>T	15.37:g.24921679G>T	ENSP00000333735:p.Ser222Ile						p.S222I	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1139	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	222						Missense_Mutation	SNP	ENST00000329468.2	37	c.665G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.271	0.418094	0.11870	.	.	ENSG00000185823	ENST00000329468	T	0.11712	2.75	1.94	-2.77	0.05877	.	3.098910	0.00951	N	0.002968	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B	0.24092	0.097	B	0.26770	0.073	T	0.28073	-1.0055	10	0.46703	T	0.11	.	2.6907	0.05120	0.4883:0.0:0.2889:0.2228	.	222	Q9NZP6	CO002_HUMAN	I	222	ENSP00000333735:S222I	ENSP00000333735:S222I	S	+	2	0	C15orf2	22472772	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.607000	0.05648	-0.838000	0.04218	0.436000	0.28706	AGT		0.617	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		18	13	1	0	2.35188e-11	0.006122	2.94594e-11	18	13				
NPAP1	23742	broad.mit.edu	37	15	24923130	24923130	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24923130T>A	ENST00000329468.2	+	1	2590	c.2116T>A	c.(2116-2118)Tcc>Acc	p.S706T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	706					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CACTCCTCCTTCCAAGGCTGT	0.512																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2116-2118)TCC>ACC		hypothetical protein LOC23742							175.0	162.0	167.0					15																	24923130		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923130T>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2116T>A	15.37:g.24923130T>A	ENSP00000333735:p.Ser706Thr						p.S706T	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2590	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	706						Missense_Mutation	SNP	ENST00000329468.2	37	c.2116T>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.37	2.217096	0.39201	.	.	ENSG00000185823	ENST00000329468	T	0.10099	2.91	2.77	0.179	0.15063	.	1.449000	0.04653	N	0.407529	T	0.12902	0.0313	L	0.39898	1.24	0.09310	N	1	D	0.64830	0.994	P	0.54706	0.759	T	0.28744	-1.0034	10	0.07990	T	0.79	.	2.2404	0.04018	0.247:0.1487:0.0:0.6043	.	706	Q9NZP6	CO002_HUMAN	T	706	ENSP00000333735:S706T	ENSP00000333735:S706T	S	+	1	0	C15orf2	22474223	0.001000	0.12720	0.000000	0.03702	0.056000	0.15407	-0.031000	0.12287	0.024000	0.15214	0.352000	0.21897	TCC		0.512	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		60	143	0	0	0	0.00361	0	60	143				
NPAP1	23742	broad.mit.edu	37	15	24923596	24923596	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24923596T>A	ENST00000329468.2	+	1	3056	c.2582T>A	c.(2581-2583)cTa>cAa	p.L861Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	861					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGGAACACACTACACAGTGAC	0.493																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2581-2583)CTA>CAA		hypothetical protein LOC23742							100.0	93.0	96.0					15																	24923596		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923596T>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2582T>A	15.37:g.24923596T>A	ENSP00000333735:p.Leu861Gln						p.L861Q	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3056	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	861						Missense_Mutation	SNP	ENST00000329468.2	37	c.2582T>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.628603	0.28978	.	.	ENSG00000185823	ENST00000329468	T	0.07567	3.18	1.5	-0.704	0.11256	.	.	.	.	.	T	0.05731	0.0150	N	0.22421	0.69	0.09310	N	1	D	0.58268	0.982	P	0.47786	0.557	T	0.29941	-0.9995	9	0.12766	T	0.61	.	4.0118	0.09626	0.0:0.5315:0.0:0.4685	.	861	Q9NZP6	CO002_HUMAN	Q	861	ENSP00000333735:L861Q	ENSP00000333735:L861Q	L	+	2	0	C15orf2	22474689	0.001000	0.12720	0.002000	0.10522	0.282000	0.26991	-0.565000	0.05929	-0.168000	0.10853	0.172000	0.16884	CTA		0.493	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		47	59	0	0	0	0.002522	0	47	59				
NPAP1	23742	broad.mit.edu	37	15	24923752	24923752	+	Missense_Mutation	SNP	C	C	G	rs547257889		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:24923752C>G	ENST00000329468.2	+	1	3212	c.2738C>G	c.(2737-2739)tCt>tGt	p.S913C		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	913					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCTGACAGTTCTTTTATTCTG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19439	0.0		0.0	False		,,,				2504	0.001						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2737-2739)TCT>TGT		hypothetical protein LOC23742							113.0	120.0	117.0					15																	24923752		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923752C>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2738C>G	15.37:g.24923752C>G	ENSP00000333735:p.Ser913Cys						p.S913C	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3212	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	913						Missense_Mutation	SNP	ENST00000329468.2	37	c.2738C>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.277402	0.40294	.	.	ENSG00000185823	ENST00000329468	T	0.09255	3.0	1.77	-0.301	0.12800	.	2.742010	0.01419	N	0.014309	T	0.15825	0.0381	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	P	0.58331	0.837	T	0.09618	-1.0666	10	0.54805	T	0.06	.	2.3041	0.04170	0.2975:0.5105:0.0:0.1919	.	913	Q9NZP6	CO002_HUMAN	C	913	ENSP00000333735:S913C	ENSP00000333735:S913C	S	+	2	0	C15orf2	22474845	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	0.138000	0.16016	-0.076000	0.12775	0.313000	0.20887	TCT		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		84	73	0	0	0	0.00361	0	84	73				
HERC2	8924	broad.mit.edu	37	15	28380792	28380792	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28380792C>A	ENST00000261609.7	-	79	12170	c.12062G>T	c.(12061-12063)gGg>gTg	p.G4021V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGACTCTGTCCCTCCAATGCC	0.448																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12061-12063)GGG>GTG		hect domain and RLD 2							78.0	71.0	74.0					15																	28380792		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28380792C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12062G>T	15.37:g.28380792C>A	ENSP00000261609:p.Gly4021Val						p.G4021V	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	79	12168	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4021			RCC1 14.			Missense_Mutation	SNP	ENST00000261609.7	37	c.12062G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909058	0.92107	.	.	ENSG00000128731	ENST00000261609	T	0.80909	-1.43	5.36	5.36	0.76844	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.81607	0.4858	L	0.56769	1.78	0.80722	D	1	B	0.21753	0.06	B	0.30495	0.116	T	0.79090	-0.1946	10	0.87932	D	0	.	19.4526	0.94873	0.0:1.0:0.0:0.0	.	4021	O95714	HERC2_HUMAN	V	4021	ENSP00000261609:G4021V	ENSP00000261609:G4021V	G	-	2	0	HERC2	26054387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.670000	0.90874	0.563000	0.77884	GGG		0.448	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		64	95	1	0	3.30712e-30	0.00361	5.51376e-30	64	95				
HERC2	8924	broad.mit.edu	37	15	28391471	28391471	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28391471T>A	ENST00000261609.7	-	71	11028	c.10920A>T	c.(10918-10920)gtA>gtT	p.V3640V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTCAAATTCTACCCTGAGTC	0.527																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(10918-10920)GTA>GTT		hect domain and RLD 2							114.0	95.0	101.0					15																	28391471		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28391471T>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10920A>T	15.37:g.28391471T>A							p.V3640V	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	71	11026	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3640						Silent	SNP	ENST00000261609.7	37	c.10920A>T	CCDS10021.1																																																																																				0.527	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		51	80	0	0	0	0.00361	0	51	80				
HERC2	8924	broad.mit.edu	37	15	28413635	28413635	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28413635C>A	ENST00000261609.7	-	67	10439	c.10331G>T	c.(10330-10332)aGt>aTt	p.S3444I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTCATGGGACTAGCCATCGC	0.562																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(10330-10332)AGT>ATT		hect domain and RLD 2							105.0	102.0	103.0					15																	28413635		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28413635C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10331G>T	15.37:g.28413635C>A	ENSP00000261609:p.Ser3444Ile						p.S3444I	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	67	10437	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3444						Missense_Mutation	SNP	ENST00000261609.7	37	c.10331G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921090	0.73213	.	.	ENSG00000128731	ENST00000261609	T	0.39787	1.06	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.60455	1.87	0.80722	D	1	B	0.30482	0.281	B	0.27076	0.076	T	0.38457	-0.9660	10	0.49607	T	0.09	.	19.4575	0.94900	0.0:1.0:0.0:0.0	.	3444	O95714	HERC2_HUMAN	I	3444	ENSP00000261609:S3444I	ENSP00000261609:S3444I	S	-	2	0	HERC2	26087230	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	5.733000	0.68571	2.677000	0.91161	0.491000	0.48974	AGT		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		78	134	1	0	9.35349e-44	0.00361	1.67652e-43	78	134				
HERC2	8924	broad.mit.edu	37	15	28465739	28465739	+	Nonsense_Mutation	SNP	C	C	A	rs199925329		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28465739C>A	ENST00000261609.7	-	37	5812	c.5704G>T	c.(5704-5706)Gga>Tga	p.G1902*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTATCCATCCGTCCTCTCCC	0.577																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5704-5706)GGA>TGA		hect domain and RLD 2							128.0	113.0	118.0					15																	28465739		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28465739C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5704G>T	15.37:g.28465739C>A	ENSP00000261609:p.Gly1902*						p.G1902*	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	37	5810	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1902			MIB/HERC2.			Nonsense_Mutation	SNP	ENST00000261609.7	37	c.5704G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	47	13.032879	0.99714	.	.	ENSG00000128731	ENST00000261609	.	.	.	4.79	4.79	0.61399	.	0.117117	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0296	0.89279	0.0:1.0:0.0:0.0	.	.	.	.	X	1902	.	ENSP00000261609:G1902X	G	-	1	0	HERC2	26139334	1.000000	0.71417	0.669000	0.29828	0.779000	0.44077	7.320000	0.79064	2.488000	0.83962	0.650000	0.86243	GGA		0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		73	145	1	0	3.25985e-27	0.00361	5.29349e-27	73	145				
HERC2	8924	broad.mit.edu	37	15	28510997	28510997	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:28510997G>A	ENST00000261609.7	-	13	1830	c.1722C>T	c.(1720-1722)acC>acT	p.T574T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCGGCCCCAGGTGTACAGCT	0.632																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(1720-1722)ACC>ACT		hect domain and RLD 2							54.0	51.0	52.0					15																	28510997		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28510997G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1722C>T	15.37:g.28510997G>A						HERC2_uc001zbl.1_Silent_p.T269T	p.T574T	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	13	1828	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	574			RCC1 2.			Silent	SNP	ENST00000261609.7	37	c.1722C>T	CCDS10021.1																																																																																				0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		34	59	0	0	0	0.003755	0	34	59				
APBA2	321	broad.mit.edu	37	15	29346822	29346822	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:29346822C>T	ENST00000558402.1	+	5	1334	c.735C>T	c.(733-735)gcC>gcT	p.A245A	APBA2_ENST00000411764.1_Silent_p.A245A|APBA2_ENST00000561069.1_Silent_p.A245A|APBA2_ENST00000558330.1_Silent_p.A245A|APBA2_ENST00000558259.1_Silent_p.A245A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	245	STXBP1-binding.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCACCAGCGCCAGTGAGGCCA	0.642																																							uc001zck.2		NA																	0					0						c.(733-735)GCC>GCT		amyloid beta A4 precursor protein-binding,							53.0	44.0	47.0					15																	29346822		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346822C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.735C>T	15.37:g.29346822C>T						APBA2_uc010azj.2_Silent_p.A245A|APBA2_uc010uat.1_Silent_p.A245A|APBA2_uc001zcl.2_Silent_p.A245A|APBA2_uc010uas.1_Silent_p.A245A	p.A245A	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	942	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	245			STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.735C>T	CCDS10022.1																																																																																				0.642	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		68	42	0	0	0	0.00361	0	68	42				
APBA2	321	broad.mit.edu	37	15	29346929	29346929	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:29346929C>A	ENST00000558402.1	+	5	1441	c.842C>A	c.(841-843)cCc>cAc	p.P281H	APBA2_ENST00000411764.1_Missense_Mutation_p.P281H|APBA2_ENST00000561069.1_Missense_Mutation_p.P281H|APBA2_ENST00000558330.1_Missense_Mutation_p.P281H|APBA2_ENST00000558259.1_Missense_Mutation_p.P281H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	281					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGCGAGGCCCAAGTCGCTG	0.677																																							uc001zck.2		NA																	0					0						c.(841-843)CCC>CAC		amyloid beta A4 precursor protein-binding,							23.0	26.0	25.0					15																	29346929		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346929C>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.842C>A	15.37:g.29346929C>A	ENSP00000453293:p.Pro281His					APBA2_uc010azj.2_Missense_Mutation_p.P281H|APBA2_uc010uat.1_Missense_Mutation_p.P281H|APBA2_uc001zcl.2_Missense_Mutation_p.P281H|APBA2_uc010uas.1_Missense_Mutation_p.P281H	p.P281H	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	1049	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	281					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.842C>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350711	0.82132	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.33654	1.4	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.62618	-0.6816	10	0.72032	D	0.01	.	17.2277	0.86975	0.0:1.0:0.0:0.0	.	281;281;281	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	H	281	ENSP00000409312:P281H	ENSP00000219865:P281H	P	+	2	0	APBA2	27134221	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.163000	0.77524	2.280000	0.76307	0.650000	0.86243	CCC		0.677	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		63	38	1	0	9.40535e-28	0.00361	1.53631e-27	63	38				
APBA2	321	broad.mit.edu	37	15	29406125	29406125	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:29406125G>T	ENST00000558402.1	+	15	2683	c.2084G>T	c.(2083-2085)cGt>cTt	p.R695L	APBA2_ENST00000411764.1_Missense_Mutation_p.R683L|APBA2_ENST00000561069.1_Missense_Mutation_p.R695L|APBA2_ENST00000558330.1_Missense_Mutation_p.R683L|APBA2_ENST00000558259.1_Missense_Mutation_p.R695L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	695	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGGGCGTCCGTGTGGGCCAC	0.627																																							uc001zck.2		NA																	0					0						c.(2083-2085)CGT>CTT		amyloid beta A4 precursor protein-binding,							103.0	83.0	90.0					15																	29406125		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29406125G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2084G>T	15.37:g.29406125G>T	ENSP00000453293:p.Arg695Leu					APBA2_uc010uat.1_Missense_Mutation_p.R683L|APBA2_uc001zcl.2_Missense_Mutation_p.R683L	p.R695L	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	13	2291	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	695			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2084G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293043	0.80914	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.60920	0.15	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.081277	0.41097	D	0.000947	T	0.74114	0.3674	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.991;0.979	T	0.75045	-0.3456	10	0.40728	T	0.16	.	16.319	0.82939	0.0:0.0:1.0:0.0	.	683;695	E9PGI4;Q99767	.;APBA2_HUMAN	L	683;695	ENSP00000409312:R683L	ENSP00000219865:R695L	R	+	2	0	APBA2	27193417	1.000000	0.71417	0.879000	0.34478	0.672000	0.39443	7.793000	0.85851	2.068000	0.61886	0.462000	0.41574	CGT		0.627	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		29	119	1	0	1.39806e-14	0.008361	1.85576e-14	29	119				
TRPM1	4308	broad.mit.edu	37	15	31294182	31294182	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:31294182C>G	ENST00000256552.6	-	28	4868	c.4721G>C	c.(4720-4722)aGt>aCt	p.S1574T	TRPM1_ENST00000397795.2_Missense_Mutation_p.S1552T|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.S1591T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCATGTAAACTTTTTGACCT	0.428																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(4654-4656)AGT>ACT		transient receptor potential cation channel,							189.0	173.0	178.0					15																	31294182		1878	4110	5988	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294182C>G	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4721G>C	15.37:g.31294182C>G	ENSP00000256552:p.Ser1574Thr					TRPM1_uc010azy.2_Missense_Mutation_p.S1459T|TRPM1_uc001zfl.2_RNA	p.S1552T	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4783	-		all_lung(180;1.92e-11)	1552			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4655G>C	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548592	0.65311	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.60171	0.21;0.21;0.24	4.87	4.87	0.63330	.	0.123630	0.56097	D	0.000029	T	0.62829	0.2460	L	0.34521	1.04	0.50313	D	0.999868	D;D	0.58970	0.984;0.972	P;P	0.58454	0.839;0.599	T	0.59547	-0.7434	10	0.29301	T	0.29	-18.4113	18.4041	0.90528	0.0:1.0:0.0:0.0	.	1546;1552	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	T	1552;1591;1574;1552	ENSP00000380897:S1552T;ENSP00000437849:S1591T;ENSP00000256552:S1574T	ENSP00000256552:S1574T	S	-	2	0	TRPM1	29081474	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	5.971000	0.70440	2.400000	0.81607	0.563000	0.77884	AGT		0.428	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		75	15	0	0	0	0.00361	0	75	15				
RYR3	6263	broad.mit.edu	37	15	33822819	33822819	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:33822819C>A	ENST00000389232.4	+	4	376	c.306C>A	c.(304-306)acC>acA	p.T102T	RYR3_ENST00000415757.3_Silent_p.T102T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	102	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCACAGGACCCTGTTATACG	0.512																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(304-306)ACC>ACA		ryanodine receptor 3							60.0	60.0	60.0					15																	33822819		1965	4155	6120	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33822819C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.306C>A	15.37:g.33822819C>A						RYR3_uc010bar.2_Silent_p.T102T	p.T102T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	4	376	+		all_lung(180;7.18e-09)	102			Cytoplasmic (By similarity).|MIR 1.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.306C>A	CCDS45210.1																																																																																				0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	7	1	0	2.17888e-05	0.006214	2.37539e-05	8	7				
RYR3	6263	broad.mit.edu	37	15	34105127	34105127	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:34105127C>T	ENST00000389232.4	+	73	10391	c.10321C>T	c.(10321-10323)Cct>Tct	p.P3441S	RYR3_ENST00000415757.3_Missense_Mutation_p.P3436S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3441					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGTGAAGAACCTTTCAATCC	0.458																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10321-10323)CCT>TCT		ryanodine receptor 3							95.0	92.0	93.0					15																	34105127		1896	4132	6028	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105127C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10321C>T	15.37:g.34105127C>T	ENSP00000373884:p.Pro3441Ser					RYR3_uc010bar.2_Missense_Mutation_p.P3436S	p.P3441S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	73	10391	+		all_lung(180;7.18e-09)	3441					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10321C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363408	0.41902	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.66280	-0.2	4.69	4.69	0.59074	.	0.064020	0.64402	D	0.000005	T	0.49355	0.1552	L	0.28556	0.865	0.58432	D	0.999998	P;B	0.45827	0.867;0.036	P;B	0.44811	0.461;0.021	T	0.38478	-0.9659	10	0.10377	T	0.69	.	11.6305	0.51171	0.0:0.9187:0.0:0.0813	.	3436;3441	Q15413-2;Q15413	.;RYR3_HUMAN	S	3441;3441;3436	ENSP00000373884:P3441S	ENSP00000354735:P3436S	P	+	1	0	RYR3	31892419	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	3.741000	0.55090	2.581000	0.87130	0.655000	0.94253	CCT		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	4	0	0	0	0.004878	0	36	4				
AQR	9716	broad.mit.edu	37	15	35224619	35224619	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:35224619C>A	ENST00000156471.5	-	11	1025	c.800G>T	c.(799-801)aGg>aTg	p.R267M		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	267					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAACCAGCGCCTTGTGGGTAG	0.428																																							uc001ziv.2		NA																	0				large_intestine(1)	1						c.(799-801)AGG>ATG		aquarius							83.0	80.0	81.0					15																	35224619		1873	4109	5982	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35224619C>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.800G>T	15.37:g.35224619C>A	ENSP00000156471:p.Arg267Met						p.R267M	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	11	981	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	267					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.800G>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524545	0.85600	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.98550	-4.99	4.85	4.85	0.62838	.	0.046201	0.85682	D	0.000000	D	0.99336	0.9767	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98630	1.0671	10	0.87932	D	0	-11.3585	18.5114	0.90917	0.0:1.0:0.0:0.0	.	267	O60306	AQR_HUMAN	M	267	ENSP00000156471:R267M	ENSP00000156471:R267M	R	-	2	0	AQR	33011911	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.305000	0.78891	2.682000	0.91365	0.467000	0.42956	AGG		0.428	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		18	26	1	0	2.94398e-08	0.007413	3.44236e-08	18	26				
C15orf41	84529	broad.mit.edu	37	15	37001480	37001480	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:37001480G>T	ENST00000566621.1	+	9	851	c.601G>T	c.(601-603)Gta>Tta	p.V201L	C15orf41_ENST00000567389.1_Missense_Mutation_p.V103L|C15orf41_ENST00000562877.1_Missense_Mutation_p.V103L|C15orf41_ENST00000437989.2_Missense_Mutation_p.V201L|C15orf41_ENST00000338183.4_Missense_Mutation_p.V103L|C15orf41_ENST00000562489.1_Missense_Mutation_p.V25L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000569302.1_Missense_Mutation_p.V201L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	201										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CATTTTACAAGTACCAGTTGG	0.279																																							uc001zje.3		NA																	0				pancreas(1)	1						c.(601-603)GTA>TTA		hypothetical protein LOC84529 isoform 1							98.0	95.0	96.0					15																	37001480		1816	4076	5892	SO:0001583	missense	84529						protein binding	g.chr15:37001480G>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.601G>T	15.37:g.37001480G>T	ENSP00000455397:p.Val201Leu					C15orf41_uc001zjd.2_Missense_Mutation_p.V201L|C15orf41_uc010bbb.1_Missense_Mutation_p.V103L|C15orf41_uc001zjf.2_Missense_Mutation_p.V103L|C15orf41_uc010uci.1_Missense_Mutation_p.V103L	p.V201L	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	9	851	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	201					B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	c.601G>T	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021129	0.75275	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.43294	0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.38838	1.175	0.80722	D	1	P	0.45474	0.859	B	0.43155	0.41	T	0.05273	-1.0895	10	0.21540	T	0.41	-13.245	20.0358	0.97557	0.0:0.0:1.0:0.0	.	201	Q9Y2V0	CO041_HUMAN	L	201;103	ENSP00000401362:V201L	ENSP00000342433:V103L	V	+	1	0	C15orf41	34788772	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.619000	0.98369	2.805000	0.96524	0.655000	0.94253	GTA		0.279	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		8	2	1	0	4.68919e-08	0.008291	5.45661e-08	8	2				
KNSTRN	90417	broad.mit.edu	37	15	40675071	40675071	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:40675071T>G	ENST00000249776.8	+	1	150	c.35T>G	c.(34-36)gTt>gGt	p.V12G	KNSTRN_ENST00000608100.1_5'Flank|KNSTRN_ENST00000416151.2_Missense_Mutation_p.V12G|KNSTRN_ENST00000448395.2_Missense_Mutation_p.V12G	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		CTGGACAGAGTTTTCCGTACA	0.592																																							uc001zll.2		NA																	0				ovary(1)|skin(1)	2						c.(34-36)GTT>GGT		TRAF4 associated factor 1 isoform a							29.0	33.0	32.0					15																	40675071		1891	4101	5992	SO:0001583	missense	90417					nucleus	protein binding	g.chr15:40675071T>G	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.35T>G	15.37:g.40675071T>G	ENSP00000249776:p.Val12Gly					C15orf23_uc010ucp.1_Missense_Mutation_p.V12G|C15orf23_uc001zlo.2_Missense_Mutation_p.V12G|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.V12G	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	1	150	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	12						Missense_Mutation	SNP	ENST00000249776.8	37	c.35T>G	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	T	8.020	0.759340	0.15846	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.28069	1.63;1.63;1.63	4.63	-8.96	0.00761	.	2.595140	0.01414	N	0.014117	T	0.10337	0.0253	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.28636	0.218;0.004;0.058	B;B;B	0.25140	0.058;0.015;0.04	T	0.11275	-1.0594	10	0.17369	T	0.5	-1.7657	5.5926	0.17309	0.2812:0.4803:0.0:0.2385	.	12;12;12	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	G	12	ENSP00000249776:V12G;ENSP00000391233:V12G;ENSP00000393001:V12G	ENSP00000249776:V12G	V	+	2	0	C15orf23	38462363	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.772000	0.00779	-1.752000	0.01325	0.533000	0.62120	GTT		0.592	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		20	5	0	0	0	0.008871	0	20	5				
KNSTRN	90417	broad.mit.edu	37	15	40675205	40675205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:40675205G>T	ENST00000249776.8	+	1	284	c.169G>T	c.(169-171)Gag>Tag	p.E57*	KNSTRN_ENST00000608100.1_5'UTR|KNSTRN_ENST00000416151.2_Nonsense_Mutation_p.E57*|KNSTRN_ENST00000448395.2_Nonsense_Mutation_p.E57*	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		TCTTTTAAACGAGAGCGAGAA	0.622																																							uc001zll.2		NA																	0				ovary(1)|skin(1)	2						c.(169-171)GAG>TAG		TRAF4 associated factor 1 isoform a							57.0	64.0	62.0					15																	40675205		1866	4092	5958	SO:0001587	stop_gained	90417					nucleus	protein binding	g.chr15:40675205G>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.169G>T	15.37:g.40675205G>T	ENSP00000249776:p.Glu57*					C15orf23_uc010ucp.1_Nonsense_Mutation_p.E57*|C15orf23_uc001zlo.2_Nonsense_Mutation_p.E57*|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.E57*	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	1	284	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	57						Nonsense_Mutation	SNP	ENST00000249776.8	37	c.169G>T	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780673	0.49891	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	.	.	.	4.34	-5.87	0.02297	.	2.222510	0.01522	N	0.018407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-1.8462	3.7939	0.08732	0.232:0.4144:0.2695:0.0842	.	.	.	.	X	57	.	ENSP00000249776:E57X	E	+	1	0	C15orf23	38462497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.430000	0.02434	-1.222000	0.02587	-1.196000	0.01674	GAG		0.622	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		41	19	1	0	1.89013e-27	0.00361	3.07702e-27	41	19				
DLL4	54567	broad.mit.edu	37	15	41228552	41228552	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:41228552A>G	ENST00000249749.5	+	9	1643	c.1367A>G	c.(1366-1368)cAt>cGt	p.H456R		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	456	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCACTTGCCATGACCTGGAG	0.642																																							uc001zng.1		NA																	0				breast(2)	2						c.(1366-1368)CAT>CGT		delta-like 4 protein precursor							37.0	40.0	39.0					15																	41228552		2168	4258	6426	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41228552A>G	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1367A>G	15.37:g.41228552A>G	ENSP00000249749:p.His456Arg						p.H456R	NM_019074	NP_061947	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	1687	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	456			EGF-like 7.|Extracellular (Potential).		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1367A>G	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	8.803	0.933407	0.18206	.	.	ENSG00000128917	ENST00000249749	T	0.60797	0.16	5.85	2.32	0.28847	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.415807	0.31210	N	0.008045	T	0.33411	0.0862	N	0.20845	0.615	0.32987	D	0.5244	B	0.06786	0.001	B	0.06405	0.002	T	0.26710	-1.0095	10	0.11794	T	0.64	.	6.076	0.19915	0.6812:0.128:0.1908:0.0	.	456	Q9NR61	DLL4_HUMAN	R	456	ENSP00000249749:H456R	ENSP00000249749:H456R	H	+	2	0	DLL4	39015844	0.845000	0.29573	0.965000	0.40720	0.802000	0.45316	1.846000	0.39289	1.017000	0.39495	0.533000	0.62120	CAT		0.642	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			10	0	0	0	0	0.006214	0	10	0				
CDAN1	146059	broad.mit.edu	37	15	43017718	43017718	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:43017718A>G	ENST00000356231.3	-	26	3442	c.3419T>C	c.(3418-3420)gTg>gCg	p.V1140A		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1140					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGAAGCCCCACATTTCTTGG	0.572																																							uc001zql.2		NA																	0				ovary(2)	2						c.(3418-3420)GTG>GCG		codanin 1							56.0	56.0	56.0					15																	43017718		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43017718A>G	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3419T>C	15.37:g.43017718A>G	ENSP00000348564:p.Val1140Ala					CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.V466A	p.V1140A	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	26	3536	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1140					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.3419T>C	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640862	0.47153	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89681	-2.55	5.85	5.85	0.93711	.	0.239547	0.42682	D	0.000680	D	0.84270	0.5435	L	0.51422	1.61	0.25830	N	0.984178	B;P	0.37663	0.001;0.604	B;B	0.34452	0.008;0.183	T	0.79495	-0.1780	10	0.46703	T	0.11	-8.1961	10.1821	0.42975	0.9225:0.0:0.0775:0.0	.	1140;1138	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	A	1140;1138	ENSP00000348564:V1140A	ENSP00000267892:V1138A	V	-	2	0	CDAN1	40805010	0.973000	0.33851	0.990000	0.47175	0.972000	0.66771	4.371000	0.59523	2.233000	0.73108	0.533000	0.62120	GTG		0.572	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		61	9	0	0	0	0.00361	0	61	9				
CDAN1	146059	broad.mit.edu	37	15	43028533	43028533	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:43028533G>A	ENST00000356231.3	-	2	559	c.536C>T	c.(535-537)cCt>cTt	p.P179L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	179					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCCTACGGGAGGGAACTCCTC	0.667																																							uc001zql.2		NA																	0				ovary(2)	2						c.(535-537)CCT>CTT		codanin 1							26.0	30.0	28.0					15																	43028533		2200	4295	6495	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43028533G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.536C>T	15.37:g.43028533G>A	ENSP00000348564:p.Pro179Leu					CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	p.P179L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	2	653	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	179					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.536C>T	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841929	0.91197	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.97480	-4.4	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	L	0.61218	1.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99180	1.0867	10	0.87932	D	0	-11.3351	18.7844	0.91947	0.0:0.0:1.0:0.0	.	179	Q8IWY9	CDAN1_HUMAN	L	179	ENSP00000348564:P179L	ENSP00000267892:P179L	P	-	2	0	CDAN1	40815825	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.519000	0.67074	2.596000	0.87737	0.561000	0.74099	CCT		0.667	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		21	7	0	0	0	0.005443	0	21	7				
CATSPER2	117155	broad.mit.edu	37	15	43939616	43939616	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:43939616C>A	ENST00000321596.5	-	3	394	c.195G>T	c.(193-195)gtG>gtT	p.V65V	CATSPER2_ENST00000354127.4_Silent_p.V65V|CATSPER2_ENST00000396879.1_Silent_p.V65V|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000355438.2_Silent_p.V65V|CATSPER2_ENST00000381761.1_Silent_p.V71V			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	65					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TAGAGAAACGCACTAGCTGGT	0.438																																							uc001zsh.2		NA																	0				ovary(1)	1						c.(193-195)GTG>GTT		sperm-associated cation channel 2 isoform 2							81.0	90.0	87.0					15																	43939616		2199	4296	6495	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43939616C>A	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.195G>T	15.37:g.43939616C>A						CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.V65V|CATSPER2_uc001zsj.2_Silent_p.V65V|CATSPER2_uc001zsk.2_Silent_p.V65V|CATSPER2_uc001zsl.1_RNA	p.V65V	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	3	410	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	65			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.195G>T	CCDS10099.1																																																																																				0.438	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		74	13	1	0	5.04879e-28	0.00361	8.27488e-28	74	13				
TRIM69	140691	broad.mit.edu	37	15	45028906	45028906	+	Missense_Mutation	SNP	G	G	C	rs530330063		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:45028906G>C	ENST00000559390.1	+	2	932	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	TRIM69_ENST00000329464.4_Missense_Mutation_p.E2Q|TRIM69_ENST00000338264.4_Missense_Mutation_p.E2Q|TRIM69_ENST00000560442.1_5'UTR|TRIM69_ENST00000561043.1_Missense_Mutation_p.E2Q|TRIM69_ENST00000558329.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	2	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGCTTCATGGAGGTGAGTGA	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14571	0.0		0.0	False		,,,				2504	0.0				Pancreas(84;519 1450 1802 20427 34706)	Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2		NA																	0					0						c.(4-6)GAG>CAG		tripartite motif-containing 69 isoform a							70.0	65.0	66.0					15																	45028906		2198	4298	6496	SO:0001583	missense	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45028906G>C	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.4G>C	15.37:g.45028906G>C	ENSP00000453177:p.Glu2Gln					TRIM69_uc001zui.1_5'UTR|TRIM69_uc010bdy.1_5'UTR|TRIM69_uc001zug.1_Missense_Mutation_p.E2Q|TRIM69_uc001zuh.1_Missense_Mutation_p.E2Q	p.E2Q	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	2	899	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	2			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.4G>C	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	7.469	0.646332	0.14451	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.55588	1.12;0.51	4.13	2.26	0.28386	.	.	.	.	.	T	0.38054	0.1026	N	0.24115	0.695	0.24941	N	0.991853	B;B	0.30281	0.275;0.18	B;B	0.35039	0.194;0.112	T	0.31861	-0.9928	9	0.48119	T	0.1	.	6.6471	0.22941	0.2135:0.0:0.7865:0.0	.	2;2	Q86WT6-2;Q86WT6	.;TRI69_HUMAN	Q	2	ENSP00000332284:E2Q;ENSP00000342922:E2Q	ENSP00000332284:E2Q	E	+	1	0	TRIM69	42816198	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	2.190000	0.42630	0.711000	0.32018	-0.150000	0.13652	GAG		0.483	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			15	4	0	0	0	0.003163	0	15	4				
TRPM7	54822	broad.mit.edu	37	15	50905990	50905990	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:50905990G>A	ENST00000313478.7	-	15	1965	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H562Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	562					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAAGATTCATGACTCTTTCGC	0.383																																							uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(1684-1686)CAT>TAT		transient receptor potential cation channel,							105.0	95.0	98.0					15																	50905990		1859	4089	5948	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50905990G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1684C>T	15.37:g.50905990G>A	ENSP00000320239:p.His562Tyr					TRPM7_uc010bew.1_Missense_Mutation_p.H562Y|TRPM7_uc001zyu.2_Missense_Mutation_p.H120Y	p.H562Y	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	15	1948	-			562			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1684C>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005814	0.35415	.	.	ENSG00000092439	ENST00000313478	T	0.72942	-0.7	5.52	5.52	0.82312	.	0.059535	0.64402	D	0.000003	T	0.71434	0.3339	L	0.44542	1.39	0.80722	D	1	D	0.54601	0.967	P	0.49799	0.622	T	0.66803	-0.5831	10	0.21540	T	0.41	-12.0924	19.4311	0.94768	0.0:0.0:1.0:0.0	.	562	Q96QT4	TRPM7_HUMAN	Y	562	ENSP00000320239:H562Y	ENSP00000320239:H562Y	H	-	1	0	TRPM7	48693282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.590000	0.87494	0.563000	0.77884	CAT		0.383	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		7	18	0	0	0	0.004482	0	7	18				
GNB5	10681	broad.mit.edu	37	15	52420406	52420406	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:52420406G>A	ENST00000261837.7	-	10	964	c.899C>T	c.(898-900)tCa>tTa	p.S300L	GNB5_ENST00000358784.7_Missense_Mutation_p.S258L|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.S188L	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	300					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGCGTCATCTGACCCTGAAGC	0.423																																							uc002abt.1		NA																	0				lung(1)	1						c.(898-900)TCA>TTA		guanine nucleotide-binding protein, beta-5							116.0	106.0	109.0					15																	52420406		2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52420406G>A	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.899C>T	15.37:g.52420406G>A	ENSP00000261837:p.Ser300Leu					GNB5_uc002abr.1_Missense_Mutation_p.S258L|GNB5_uc002abs.1_Missense_Mutation_p.S188L	p.S300L	NM_016194	NP_057278	O14775	GBB5_HUMAN		all cancers(107;0.0163)	10	964	-			300			WD 5.		B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.899C>T	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424870	0.96131	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.74421	-0.84	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91188	0.7224	H	0.95365	3.66	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	D	0.92441	0.5962	10	0.87932	D	0	-8.4568	20.8794	0.99867	0.0:0.0:1.0:0.0	.	300;188	O14775;O14775-3	GBB5_HUMAN;.	L	300;258;98;188	ENSP00000261837:S300L	ENSP00000261837:S300L	S	-	2	0	GNB5	50207698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.049000	0.93837	2.941000	0.99782	0.655000	0.94253	TCA		0.423	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			23	12	0	0	0	0.007291	0	23	12				
UNC13C	440279	broad.mit.edu	37	15	54306850	54306850	+	Silent	SNP	C	C	A	rs530116434	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:54306850C>A	ENST00000260323.11	+	1	1750	c.1750C>A	c.(1750-1752)Cgg>Agg	p.R584R	UNC13C_ENST00000537900.1_Silent_p.R584R|UNC13C_ENST00000545554.1_Silent_p.R584R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	584					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTTCGGACCGGGAGCTATG	0.453																																							uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(1750-1752)CGG>AGG		unc-13 homolog C							73.0	71.0	72.0					15																	54306850		1904	4116	6020	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306850C>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1750C>A	15.37:g.54306850C>A							p.R584R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1750	+			584					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1750C>A	CCDS45264.1																																																																																				0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		18	7	1	0	5.01169e-05	0.00499	5.42396e-05	18	7				
RFX7	64864	broad.mit.edu	37	15	56387748	56387748	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:56387748T>C	ENST00000559447.2	-	9	2158	c.1887A>G	c.(1885-1887)atA>atG	p.I629M	RFX7_ENST00000423270.1_Missense_Mutation_p.I726M|RFX7_ENST00000422057.1_Missense_Mutation_p.I629M|RFX7_ENST00000317318.6_Missense_Mutation_p.I726M			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	629					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATTTGCTCCTATGTGTGAAC	0.413																																							uc010bfn.2		NA																	0					0						c.(2176-2178)ATA>ATG		regulatory factor X domain containing 2							110.0	100.0	103.0					15																	56387748		1935	4139	6074	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387748T>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1887A>G	15.37:g.56387748T>C	ENSP00000453281:p.Ile629Met					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.I540M	p.I726M	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	2178	-			629					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2178A>G		.	.	.	.	.	.	.	.	.	.	t	0.763	-0.768421	0.02974	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.54866	0.55;0.55;0.55	5.17	-7.36	0.01417	.	1.208990	0.05768	N	0.606235	T	0.22666	0.0547	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09037	-1.0693	10	0.26408	T	0.33	3.8705	1.8902	0.03246	0.1924:0.3097:0.0982:0.3997	.	629;629	Q2KHR2;C9JU50	RFX7_HUMAN;.	M	629;726;726	ENSP00000387504:I629M;ENSP00000313299:I726M;ENSP00000397644:I726M	ENSP00000313299:I726M	I	-	3	3	RFX7	54175040	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.821000	0.01713	-0.938000	0.03714	-1.125000	0.01998	ATA		0.413	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		19	11	0	0	0	0.007413	0	19	11				
FAM63B	54629	broad.mit.edu	37	15	59102480	59102480	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:59102480G>A	ENST00000559228.1	+	4	1097	c.1015G>A	c.(1015-1017)Gta>Ata	p.V339I	FAM63B_ENST00000450403.2_Missense_Mutation_p.V339I			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	339										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGGCCTGGATGTAAATGTAAG	0.368																																							uc002afj.2		NA																	0				central_nervous_system(1)	1						c.(1015-1017)GTA>ATA		hypothetical protein LOC54629 isoform a							187.0	177.0	180.0					15																	59102480		1840	4099	5939	SO:0001583	missense	54629							g.chr15:59102480G>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1015G>A	15.37:g.59102480G>A	ENSP00000452885:p.Val339Ile					FAM63B_uc002afi.2_Missense_Mutation_p.V339I|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	p.V339I	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			4	1217	+			339					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1015G>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447169	0.96205	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.62788	-0.0	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	L	0.61387	1.9	0.80722	D	1	P;P	0.50710	0.938;0.924	D;P	0.64042	0.921;0.801	T	0.74677	-0.3585	10	0.41790	T	0.15	0.0	19.5615	0.95374	0.0:0.0:1.0:0.0	.	339;339	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	I	339	ENSP00000393231:V339I	ENSP00000326194:V339I	V	+	1	0	FAM63B	56889772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.600000	0.87896	0.591000	0.81541	GTA		0.368	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		18	13	0	0	0	0.002299	0	18	13				
PML	5371	broad.mit.edu	37	15	74315359	74315359	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:74315359G>T	ENST00000268058.3	+	3	889	c.793G>T	c.(793-795)Gtc>Ttc	p.V265F	PML_ENST00000567543.1_Missense_Mutation_p.V265F|PML_ENST00000359928.4_Missense_Mutation_p.V265F|PML_ENST00000564428.1_Missense_Mutation_p.V265F|PML_ENST00000565898.1_Missense_Mutation_p.V265F|PML_ENST00000563500.1_Missense_Mutation_p.V265F|PML_ENST00000436891.3_Missense_Mutation_p.V265F|PML_ENST00000569965.1_Missense_Mutation_p.V265F|PML_ENST00000395132.2_Missense_Mutation_p.V265F|PML_ENST00000569477.1_Missense_Mutation_p.V265F|PML_ENST00000435786.2_Missense_Mutation_p.V265F|PML_ENST00000354026.6_Missense_Mutation_p.V265F|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.V265F|PML_ENST00000268059.6_Missense_Mutation_p.V265F	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	265					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCACGCGGCCGTCGGCCAGCT	0.701			T	"""RARA, PAX5"""	"""APL, ALL"""																																		uc002awv.2		NA		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		0				central_nervous_system(2)|kidney(2)|breast(1)	5						c.(793-795)GTC>TTC		promyelocytic leukemia protein isoform 1							13.0	13.0	13.0					15																	74315359		2181	4261	6442	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74315359G>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.793G>T	15.37:g.74315359G>T	ENSP00000268058:p.Val265Phe					PML_uc002awm.2_Missense_Mutation_p.V265F|PML_uc002awl.2_Missense_Mutation_p.V265F|PML_uc002awj.1_Missense_Mutation_p.V265F|PML_uc002awk.2_Missense_Mutation_p.V265F|PML_uc002awn.2_Missense_Mutation_p.V265F|PML_uc002awo.2_Missense_Mutation_p.V265F|PML_uc002awp.2_Missense_Mutation_p.V265F|PML_uc002awq.2_Missense_Mutation_p.V265F|PML_uc002awr.2_Missense_Mutation_p.V265F|PML_uc002aws.2_Missense_Mutation_p.V265F|PML_uc002awt.2_Missense_Mutation_p.V265F|PML_uc002awu.2_Missense_Mutation_p.V265F|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.V180F|PML_uc002awx.2_Missense_Mutation_p.V23F|PML_uc002awy.2_5'Flank	p.V265F	NM_033238	NP_150241	P29590	PML_HUMAN			3	933	+			265					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.793G>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583581	0.46006	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.47528	0.84	4.93	-7.43	0.01383	.	1.431490	0.04506	N	0.382162	T	0.52435	0.1734	L	0.50333	1.59	0.09310	N	1	D;P;D;P;P;P;D;D;D;D;P;D;D	0.67145	0.99;0.931;0.99;0.952;0.95;0.851;0.973;0.979;0.988;0.988;0.939;0.996;0.962	P;P;P;P;P;B;P;P;P;P;B;P;P	0.60068	0.868;0.48;0.693;0.481;0.464;0.344;0.512;0.809;0.659;0.746;0.378;0.868;0.758	T	0.61652	-0.7019	10	0.59425	D	0.04	-10.6608	7.5089	0.27562	0.2896:0.2221:0.4883:0.0	.	265;215;265;265;265;265;265;265;265;265;265;265;268	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	F	265	ENSP00000268058:V265F	ENSP00000268058:V265F	V	+	1	0	PML	72102412	0.000000	0.05858	0.000000	0.03702	0.192000	0.23643	-0.283000	0.08433	-1.222000	0.02587	0.313000	0.20887	GTC		0.701	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		18	5	1	0	1.67942e-08	0.006122	1.97446e-08	18	5				
ISLR2	57611	broad.mit.edu	37	15	74426880	74426880	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:74426880A>T	ENST00000361742.3	+	4	2554	c.1785A>T	c.(1783-1785)gcA>gcT	p.A595A	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Silent_p.A595A|ISLR2_ENST00000453268.2_Silent_p.A595A|ISLR2_ENST00000565540.1_Silent_p.A595A|ISLR2_ENST00000419208.1_Silent_p.A595A|ISLR2_ENST00000445793.1_Silent_p.A595A|ISLR2_ENST00000565159.1_Silent_p.A595A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	595					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TCATAGTGGCAGTGAGCGTAT	0.632											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002axd.2		NA																	0					0						c.(1783-1785)GCA>GCT		immunoglobulin superfamily containing							40.0	36.0	37.0					15																	74426880		2197	4295	6492	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426880A>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1785A>T	15.37:g.74426880A>T			OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ISLR2_uc002axe.2_Silent_p.A595A|ISLR2_uc010bjg.2_Silent_p.A595A|ISLR2_uc010bjf.2_Silent_p.A595A	p.A595A	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	2554	+			595			Helical; (Potential).		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.1785A>T	CCDS10259.1																																																																																				0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		37	8	0	0	0	0.004878	0	37	8				
CSPG4	1464	broad.mit.edu	37	15	75977804	75977804	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:75977804G>T	ENST00000308508.5	-	4	4120	c.4028C>A	c.(4027-4029)cCc>cAc	p.P1343H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1343	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCCTCGAGGGGAGCACCCAG	0.672																																							uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4027-4029)CCC>CAC		chondroitin sulfate proteoglycan 4 precursor							20.0	21.0	21.0					15																	75977804		2188	4291	6479	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75977804G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4028C>A	15.37:g.75977804G>T	ENSP00000312506:p.Pro1343His						p.P1343H	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			4	4121	-			1343			Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.4028C>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.258184	0.39896	.	.	ENSG00000173546	ENST00000308508	T	0.20069	2.1	4.76	3.84	0.44239	.	0.088124	0.48767	D	0.000168	T	0.17704	0.0425	L	0.43152	1.355	0.09310	N	1	B	0.27229	0.172	B	0.18871	0.023	T	0.12192	-1.0557	10	0.40728	T	0.16	.	12.129	0.53932	0.0841:0.0:0.9159:0.0	.	1343	Q6UVK1	CSPG4_HUMAN	H	1343	ENSP00000312506:P1343H	ENSP00000312506:P1343H	P	-	2	0	CSPG4	73764859	0.078000	0.21339	0.283000	0.24790	0.520000	0.34377	2.062000	0.41413	1.136000	0.42199	0.505000	0.49811	CCC		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		18	5	1	0	2.4624e-09	0.008871	2.94878e-09	18	5				
IL16	3603	broad.mit.edu	37	15	81578048	81578048	+	Missense_Mutation	SNP	C	C	A	rs374076985		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:81578048C>A	ENST00000302987.4	+	9	1209	c.1209C>A	c.(1207-1209)gaC>gaA	p.D403E	IL16_ENST00000394660.2_Missense_Mutation_p.D403E			Q14005	IL16_HUMAN	interleukin 16	403	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGTGTGGGGACGAGATTGTGG	0.527																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1207-1209)GAC>GAA		interleukin 16 isoform 2							121.0	121.0	121.0					15																	81578048		2063	4193	6256	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81578048C>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1209C>A	15.37:g.81578048C>A	ENSP00000302935:p.Asp403Glu					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.D403E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.D445E|IL16_uc002bgg.2_Missense_Mutation_p.D403E|IL16_uc002bgi.1_5'UTR	p.D403E	NM_172217	NP_757366	Q14005	IL16_HUMAN			10	1585	+			403			PDZ 2.|Interaction with GRIN2A.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1209C>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137273	0.37728	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.50813	0.73;0.73	4.93	-3.33	0.04958	PDZ/DHR/GLGF (3);	0.000000	0.47093	D	0.000250	T	0.70351	0.3214	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74262	-0.3722	10	0.87932	D	0	.	12.7866	0.57510	0.0:0.5046:0.0:0.4954	.	403;403	Q14005;Q14005-2	IL16_HUMAN;.	E	403;403;235;403	ENSP00000378155:D403E;ENSP00000302935:D403E	ENSP00000302935:D403E	D	+	3	2	IL16	79365103	0.938000	0.31826	0.648000	0.29521	0.096000	0.18686	-0.071000	0.11505	-0.842000	0.04195	-1.021000	0.02439	GAC		0.527	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		40	17	1	0	1.60099e-16	0.004878	2.20692e-16	40	17				
BNC1	646	broad.mit.edu	37	15	83926531	83926531	+	Missense_Mutation	SNP	C	C	A	rs138195790		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:83926531C>A	ENST00000345382.2	-	5	2733	c.2648G>T	c.(2647-2649)gGc>gTc	p.G883V	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G876V	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	883					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAGCACAGTGCCTTCCTCACT	0.552																																							uc002bjt.1		NA																	0				ovary(3)	3						c.(2647-2649)GGC>GTC		basonuclin 1							168.0	125.0	140.0					15																	83926531		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926531C>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2648G>T	15.37:g.83926531C>A	ENSP00000307041:p.Gly883Val					BNC1_uc010uos.1_Missense_Mutation_p.G871V	p.G883V	NM_001717	NP_001708	Q01954	BNC1_HUMAN			5	2736	-			883					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2648G>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742460	0.69418	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.58358	0.34	5.94	5.02	0.67125	.	0.105878	0.64402	D	0.000005	T	0.63212	0.2492	L	0.58810	1.83	0.58432	D	0.999999	D;P	0.63046	0.992;0.595	P;B	0.60068	0.868;0.087	T	0.62364	-0.6870	10	0.37606	T	0.19	-26.662	12.0092	0.53278	0.0:0.8616:0.0:0.1384	.	876;883	F5GY04;Q01954	.;BNC1_HUMAN	V	883;876	ENSP00000307041:G883V	ENSP00000307041:G883V	G	-	2	0	BNC1	81717535	0.929000	0.31497	0.665000	0.29768	0.885000	0.51271	2.160000	0.42348	1.508000	0.48769	0.563000	0.77884	GGC		0.552	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		91	22	1	0	1.52223e-32	0.00361	2.58472e-32	91	22				
ADAMTSL3	57188	broad.mit.edu	37	15	84611740	84611740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:84611740C>A	ENST00000286744.5	+	19	2620	c.2396C>A	c.(2395-2397)tCa>tAa	p.S799*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.S799*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	799	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGAATCTCTCAGATGAATTG	0.522																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2395-2397)TCA>TAA		ADAMTS-like 3 precursor							76.0	71.0	72.0					15																	84611740		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611740C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2396C>A	15.37:g.84611740C>A	ENSP00000286744:p.Ser799*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.S799*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.S799*	p.S799*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2620	+			799			TSP type-1 6.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.2396C>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	42	9.304775	0.99130	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.08	5.08	0.68730	.	0.471650	0.15890	N	0.239615	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7715	0.63029	0.0:0.846:0.154:0.0	.	.	.	.	X	799	.	ENSP00000286744:S799X	S	+	2	0	ADAMTSL3	82402744	0.004000	0.15560	0.497000	0.27552	0.997000	0.91878	2.049000	0.41288	2.358000	0.79984	0.655000	0.94253	TCA		0.522	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		15	13	1	0	1.3612e-06	0.003163	1.52348e-06	15	13				
ADAMTSL3	57188	broad.mit.edu	37	15	84639249	84639249	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:84639249G>T	ENST00000286744.5	+	20	2728	c.2504G>T	c.(2503-2505)tGt>tTt	p.C835F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.C835F|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	835	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGTCAGTTGTGGTGTTGGA	0.517																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2503-2505)TGT>TTT		ADAMTS-like 3 precursor							146.0	136.0	139.0					15																	84639249		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84639249G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2504G>T	15.37:g.84639249G>T	ENSP00000286744:p.Cys835Phe					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.C835F|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.C835F	p.C835F	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		20	2728	+			835			TSP type-1 7.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2504G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996296	0.54147	.	.	ENSG00000156218	ENST00000286744	D	0.96491	-4.03	4.39	4.39	0.52855	.	0.000000	0.46442	D	0.000286	D	0.98982	0.9653	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99150	1.0858	10	0.87932	D	0	.	16.75	0.85483	0.0:0.0:1.0:0.0	.	835;835	P82987-2;P82987	.;ATL3_HUMAN	F	835	ENSP00000286744:C835F	ENSP00000286744:C835F	C	+	2	0	ADAMTSL3	82430253	1.000000	0.71417	0.996000	0.52242	0.500000	0.33767	6.139000	0.71728	2.256000	0.74724	0.650000	0.86243	TGT		0.517	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		74	20	1	0	2.32478e-39	0.00361	4.09483e-39	74	20				
AGBL1	123624	broad.mit.edu	37	15	86686992	86686992	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:86686992C>A	ENST00000441037.2	+	2	135	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	AGBL1_ENST00000421325.2_Missense_Mutation_p.L14M	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	14					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTGCAGACCCTGGTAGACAC	0.542																																							uc002blz.1		NA																	0					0						c.(40-42)CTG>ATG		ATP/GTP binding protein-like 1							120.0	128.0	126.0					15																	86686992		2058	4193	6251	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86686992C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.40C>A	15.37:g.86686992C>A	ENSP00000413001:p.Leu14Met						p.L14M	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			2	120	+			14					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.40C>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449018	0.63178	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.76186	-1.0	5.42	3.16	0.36331	Armadillo-type fold (1);	.	.	.	.	D	0.83133	0.5188	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82220	-0.0565	9	0.54805	T	0.06	-8.8202	5.8725	0.18810	0.0:0.7392:0.0:0.2608	.	14	Q96MI9	CBPC4_HUMAN	M	43;14	ENSP00000397173:L14M	ENSP00000397173:L14M	L	+	1	2	AGBL1	84487996	0.804000	0.28969	0.984000	0.44739	0.981000	0.71138	1.285000	0.33261	1.414000	0.47017	0.655000	0.94253	CTG		0.542	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		44	6	1	0	1.61863e-15	0.00361	2.19525e-15	44	6				
HAPLN3	145864	broad.mit.edu	37	15	89421289	89421289	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:89421289C>A	ENST00000359595.3	-	5	1209	c.995G>T	c.(994-996)tGt>tTt	p.C332F	HAPLN3_ENST00000562889.1_Missense_Mutation_p.C394F	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	332	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TGGGGGCCCACAGTTAGGATG	0.652																																							uc002bnc.2		NA																	0					0						c.(994-996)TGT>TTT		hyaluronan and proteoglycan link protein 3							65.0	72.0	70.0					15																	89421289		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421289C>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.995G>T	15.37:g.89421289C>A	ENSP00000352606:p.Cys332Phe					HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.C394F	p.C332F	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			5	1123	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		332			Link 2.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.995G>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488987	0.64074	.	.	ENSG00000140511	ENST00000359595	T	0.24151	1.87	4.69	4.69	0.59074	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80674	-0.1277	10	0.87932	D	0	-24.2873	16.5803	0.84713	0.0:1.0:0.0:0.0	.	332;332	A8K7T8;Q96S86	.;HPLN3_HUMAN	F	332	ENSP00000352606:C332F	ENSP00000352606:C332F	C	-	2	0	HAPLN3	87222293	1.000000	0.71417	0.951000	0.38953	0.174000	0.22865	7.310000	0.78947	2.302000	0.77476	0.650000	0.86243	TGT		0.652	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		74	23	1	0	9.63364e-24	0.00361	1.50133e-23	74	23				
RHBDF1	64285	broad.mit.edu	37	16	113013	113013	+	Silent	SNP	C	C	A	rs200712387	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:113013C>A	ENST00000262316.6	-	5	772	c.630G>T	c.(628-630)tcG>tcT	p.S210S	RHBDF1_ENST00000454039.2_Silent_p.S210S	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	210					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCTTGGCCACCGACTCTCGCT	0.701																																							uc002cfl.3		NA																	0				ovary(1)|pancreas(1)	2						c.(628-630)TCG>TCT		rhomboid family 1							22.0	29.0	27.0					16																	113013		2198	4294	6492	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113013C>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.630G>T	16.37:g.113013C>A						RHBDF1_uc010uty.1_Silent_p.S233S|RHBDF1_uc010utz.1_Silent_p.S210S|RHBDF1_uc010bqo.1_RNA	p.S210S	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN			8	778	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	210			Cytoplasmic (Potential).		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.630G>T	CCDS32344.1																																																																																				0.701	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		13	11	1	0	1.15088e-07	0.004007	1.32252e-07	13	11				
SOX8	30812	broad.mit.edu	37	16	1035161	1035161	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:1035161C>A	ENST00000293894.3	+	3	1231	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	372					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				cggccgcccccgccggccccT	0.726																																							uc002ckn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1114-1116)CCC>CCA		SRY (sex determining region Y)-box 8							6.0	8.0	7.0					16																	1035161		2044	4052	6096	SO:0001819	synonymous_variant	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035161C>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1116C>A	16.37:g.1035161C>A							p.P372P	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1231	+		Hepatocellular(780;0.00308)	372					Q9NZW2	Silent	SNP	ENST00000293894.3	37	c.1116C>A	CCDS10428.1																																																																																				0.726	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			8	18	1	0	0.00307968	0.00308	0.00318168	8	18				
E4F1	1877	broad.mit.edu	37	16	2284322	2284322	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:2284322A>T	ENST00000301727.4	+	10	1574	c.1526A>T	c.(1525-1527)cAc>cTc	p.H509L	DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000564139.1_Missense_Mutation_p.H509L|DNASE1L2_ENST00000320700.5_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	509	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GTGCGTGGCCACCGGCGCGTC	0.642																																							uc002cpm.2		NA																	0				ovary(1)	1						c.(1525-1527)CAC>CTC		p120E4F							62.0	65.0	64.0					16																	2284322		2197	4300	6497	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284322A>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1526A>T	16.37:g.2284322A>T	ENSP00000301727:p.His509Leu					E4F1_uc010bsi.2_Missense_Mutation_p.H509L|E4F1_uc010bsj.2_Intron|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	p.H509L	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			10	1574	+			509			Mediates interaction with CDKN2A.|Interaction with BMI1.|C2H2-type 6.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.1526A>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560395	0.65538	.	.	ENSG00000167967	ENST00000301727	D	0.86865	-2.18	5.11	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97459	1.0033	10	0.87932	D	0	-19.3693	13.7424	0.62855	1.0:0.0:0.0:0.0	.	509	Q66K89	E4F1_HUMAN	L	509	ENSP00000301727:H509L	ENSP00000301727:H509L	H	+	2	0	E4F1	2224323	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.411000	0.80078	1.934000	0.56057	0.448000	0.29417	CAC		0.642	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		19	25	0	0	0	0.007413	0	19	25				
CREBBP	1387	broad.mit.edu	37	16	3900688	3900688	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:3900688C>A	ENST00000262367.5	-	2	1217	c.408G>T	c.(406-408)caG>caT	p.Q136H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q136H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	136					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTGGCTGCCTGTTTAGGCA	0.632			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(406-408)CAG>CAT		CREB binding protein isoform a							43.0	46.0	45.0					16																	3900688		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybsyndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3900688C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.408G>T	16.37:g.3900688C>A	ENSP00000262367:p.Gln136His					CREBBP_uc002cvw.2_Missense_Mutation_p.Q136H	p.Q136H	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	612	-		Ovarian(90;0.0266)	136					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.408G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233797	0.39498	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84298	-1.83;-1.75	5.88	4.9	0.64082	.	0.236828	0.37761	N	0.001950	D	0.82458	0.5041	N	0.22421	0.69	0.41476	D	0.988134	D;D	0.60160	0.987;0.976	P;P	0.61132	0.884;0.857	T	0.81315	-0.0988	10	0.42905	T	0.14	-17.1945	5.3201	0.15876	0.1773:0.6706:0.0:0.1521	.	204;136	Q4LE28;Q92793	.;CBP_HUMAN	H	136;204;136	ENSP00000262367:Q136H;ENSP00000371502:Q136H	ENSP00000262367:Q136H	Q	-	3	2	CREBBP	3840689	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.596000	0.36718	1.453000	0.47775	0.555000	0.69702	CAG		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		36	43	1	0	1.57351e-24	0.003755	2.47614e-24	36	43				
CORO7	79585	broad.mit.edu	37	16	4411088	4411088	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:4411088T>A	ENST00000251166.4	-	19	1920		c.e19-2		CORO7_ENST00000539968.1_Splice_Site|CORO7-PAM16_ENST00000572467.1_Splice_Site|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_Splice_Site|CORO7_ENST00000537233.2_Splice_Site|CORO7_ENST00000574025.1_Splice_Site	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7						actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCGTGTGGCCTGGAGGAAGGC	0.627																																							uc002cwh.3		NA																	0					0						c.e19-1		coronin 7							94.0	88.0	90.0					16																	4411088		2196	4299	6495	SO:0001630	splice_region_variant	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4411088T>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1775-2A>T	16.37:g.4411088T>A						CORO7_uc002cwe.2_Splice_Site|CORO7_uc002cwf.2_Splice_Site_p.G592_splice|CORO7_uc002cwg.3_Splice_Site_p.G372_splice|CORO7_uc010uxh.1_Splice_Site_p.G574_splice|CORO7_uc010uxi.1_Splice_Site_p.G507_splice|CORO7_uc002cwi.1_Splice_Site_p.G372_splice|CORO7_uc010uxj.1_Splice_Site	p.G592_splice	NM_024535	NP_078811	P57737	CORO7_HUMAN			19	1895	-								B4DFD6|B4DL18|I3L416|Q17RK4	Splice_Site	SNP	ENST00000251166.4	37	c.1775_splice	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.775474	0.31411	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6606	0.68868	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORO7	4351089	1.000000	0.71417	0.992000	0.48379	0.026000	0.11368	5.581000	0.67471	1.949000	0.56562	0.374000	0.22700	.		0.627	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	Intron	9	24	0	0	0	0.004482	0	9	24				
UBN1	29855	broad.mit.edu	37	16	4924437	4924437	+	Missense_Mutation	SNP	G	G	T	rs150281333		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:4924437G>T	ENST00000396658.4	+	14	2729	c.2026G>T	c.(2026-2028)Gtg>Ttg	p.V676L	UBN1_ENST00000590769.1_Missense_Mutation_p.V676L|UBN1_ENST00000545171.1_Missense_Mutation_p.V676L|UBN1_ENST00000262376.6_Missense_Mutation_p.V676L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	676					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGTGGAAGCCGTGTCCAAGGA	0.547																																							uc002cyb.2		NA																	0				skin(2)	2						c.(2026-2028)GTG>TTG		ubinuclein 1							110.0	111.0	110.0					16																	4924437		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924437G>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2026G>T	16.37:g.4924437G>T	ENSP00000379894:p.Val676Leu					UBN1_uc010uxw.1_Missense_Mutation_p.V676L|UBN1_uc002cyc.2_Missense_Mutation_p.V676L	p.V676L	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2365	+			676					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2026G>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485459	0.63962	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.59638	0.86;0.25;0.86	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000012	T	0.58466	0.2124	M	0.72894	2.215	0.33129	D	0.542796	B;B	0.30870	0.298;0.197	B;B	0.35240	0.198;0.061	T	0.71596	-0.4545	10	0.66056	D	0.02	-8.9427	11.5392	0.50657	0.082:0.0:0.918:0.0	.	676;676	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	L	676	ENSP00000262376:V676L;ENSP00000442379:V676L;ENSP00000379894:V676L	ENSP00000262376:V676L	V	+	1	0	UBN1	4864438	0.997000	0.39634	0.945000	0.38365	0.779000	0.44077	2.652000	0.46682	2.575000	0.86900	0.561000	0.74099	GTG		0.547	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		57	74	1	0	3.40343e-31	0.00361	5.72866e-31	57	74				
RBFOX1	54715	broad.mit.edu	37	16	7703943	7703943	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:7703943A>G	ENST00000550418.1	+	12	1872	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	RBFOX1_ENST00000355637.4_Missense_Mutation_p.Y315C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Y312C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Y295C|RBFOX1_ENST00000340209.4_Missense_Mutation_p.Y300C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.Y338C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Y268C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.Y315C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Y315C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.Y338C|RBFOX1_ENST00000535565.2_Missense_Mutation_p.Y252C	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	295					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATCCCGGCCTACGGCGGGTAA	0.731																																					Ovarian(157;934 2567 15163 39509)		uc002cys.2		NA																	0					0						c.(883-885)TAC>TGC		ataxin 2-binding protein 1 isoform 4							4.0	6.0	5.0					16																	7703943		1418	3125	4543	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703943A>G	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.884A>G	16.37:g.7703943A>G	ENSP00000450031:p.Tyr295Cys					A2BP1_uc010buf.1_Missense_Mutation_p.Y295C|A2BP1_uc002cyr.1_Missense_Mutation_p.Y294C|A2BP1_uc002cyt.2_Missense_Mutation_p.Y268C|A2BP1_uc010uxz.1_Missense_Mutation_p.Y338C|A2BP1_uc010uya.1_Missense_Mutation_p.Y252C|A2BP1_uc002cyv.1_Missense_Mutation_p.Y295C|A2BP1_uc010uyb.1_Missense_Mutation_p.Y295C|A2BP1_uc002cyw.2_Missense_Mutation_p.Y315C|A2BP1_uc002cyy.2_Missense_Mutation_p.Y315C|A2BP1_uc002cyx.2_Missense_Mutation_p.Y315C|A2BP1_uc010uyc.1_Missense_Mutation_p.Y288C	p.Y295C	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	12	1872	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	295					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.884A>G	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	a	19.54	3.846364	0.71603	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.39229	1.09;1.35;1.48;1.35;1.09;1.23;1.38;1.45;1.09	4.23	4.23	0.50019	.	0.136647	0.50627	D	0.000103	T	0.61949	0.2388	M	0.70275	2.135	0.51767	D	0.999936	D;P;D;D;D;D;D;D;D	0.89917	0.999;0.552;0.999;0.996;0.999;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D;D;D	0.91635	0.937;0.299;0.983;0.922;0.967;0.998;0.997;0.999;0.999	T	0.63915	-0.6529	9	.	.	.	-5.8203	13.6433	0.62265	1.0:0.0:0.0:0.0	.	288;252;338;315;315;315;268;295;338	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	C	295;268;338;338;252;312;295;315;315;315;288;300	ENSP00000450031:Y295C;ENSP00000447753:Y268C;ENSP00000446842:Y338C;ENSP00000391269:Y338C;ENSP00000447717:Y295C;ENSP00000402745:Y315C;ENSP00000309117:Y315C;ENSP00000347855:Y315C;ENSP00000344196:Y300C	.	Y	+	2	0	RBFOX1	7643944	1.000000	0.71417	0.996000	0.52242	0.761000	0.43186	7.088000	0.76901	1.684000	0.51022	0.324000	0.21423	TAC		0.731	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		5	8	0	0	0	0.000602	0	5	8				
METTL22	79091	broad.mit.edu	37	16	8722679	8722679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:8722679G>T	ENST00000381920.3	+	3	484	c.226G>T	c.(226-228)Gag>Tag	p.E76*	METTL22_ENST00000561758.1_Nonsense_Mutation_p.E76*	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	76						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						TCACACAAAGGAGCCTCCTTC	0.552																																							uc002cyz.2		NA																	0					0						c.(226-228)GAG>TAG		hypothetical protein LOC79091							72.0	77.0	75.0					16																	8722679		1969	4184	6153	SO:0001587	stop_gained	79091						methyltransferase activity	g.chr16:8722679G>T	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.226G>T	16.37:g.8722679G>T	ENSP00000371345:p.Glu76*					C16orf68_uc002cza.2_Nonsense_Mutation_p.E76*	p.E76*	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN			3	502	+			76					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Nonsense_Mutation	SNP	ENST00000381920.3	37	c.226G>T	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369829	0.61624	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	.	.	.	5.19	0.514	0.17007	.	1.497370	0.03829	N	0.268806	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-29.1501	3.688	0.08335	0.3191:0.1875:0.4934:0.0	.	.	.	.	X	76	.	ENSP00000163678:E76X	E	+	1	0	METTL22	8630180	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	0.379000	0.20585	0.595000	0.29777	-0.291000	0.09656	GAG		0.552	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		14	39	1	0	2.23348e-06	0.004007	2.47965e-06	14	39				
METTL22	79091	broad.mit.edu	37	16	8722940	8722940	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:8722940G>C	ENST00000381920.3	+	3	745	c.487G>C	c.(487-489)Ggc>Cgc	p.G163R	METTL22_ENST00000561758.1_Missense_Mutation_p.G107R	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	163						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						GGAAGCACAAGGCAGCCCGCA	0.547																																							uc002cyz.2		NA																	0					0						c.(487-489)GGC>CGC		hypothetical protein LOC79091							214.0	225.0	221.0					16																	8722940		2118	4226	6344	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8722940G>C	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.487G>C	16.37:g.8722940G>C	ENSP00000371345:p.Gly163Arg					C16orf68_uc002cza.2_Missense_Mutation_p.G107R	p.G163R	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN			3	763	+			163					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.487G>C	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993183	0.54041	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	T;T	0.44083	2.27;0.93	5.43	5.43	0.79202	.	1.551650	0.03513	N	0.219870	T	0.29817	0.0745	N	0.08118	0	0.09310	N	1	B	0.32731	0.382	B	0.23574	0.047	T	0.36986	-0.9725	10	0.37606	T	0.19	-11.7568	15.9509	0.79835	0.0:0.0:1.0:0.0	.	163	Q9BUU2	MET22_HUMAN	R	163	ENSP00000371345:G163R;ENSP00000163678:G163R	ENSP00000163678:G163R	G	+	1	0	METTL22	8630441	0.590000	0.26815	0.006000	0.13384	0.003000	0.03518	3.907000	0.56348	2.545000	0.85829	0.561000	0.74099	GGC		0.547	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		62	140	0	0	0	0.00361	0	62	140				
KIAA0430	9665	broad.mit.edu	37	16	15715643	15715643	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:15715643C>A	ENST00000396368.3	-	12	2792	c.2586G>T	c.(2584-2586)aaG>aaT	p.K862N	KIAA0430_ENST00000540441.2_Missense_Mutation_p.K697N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K531N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K859N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K859N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K862N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	862	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGACCAGGATCTTTTTGCTGC	0.428																																							uc002ddr.2		NA																	0					0						c.(2584-2586)AAG>AAT		limkain b1							132.0	121.0	124.0					16																	15715643		1888	4120	6008	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15715643C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2586G>T	16.37:g.15715643C>A	ENSP00000379654:p.Lys862Asn					KIAA0430_uc002ddq.2_Missense_Mutation_p.K696N|KIAA0430_uc010uzv.1_Missense_Mutation_p.K858N|KIAA0430_uc010uzw.1_Missense_Mutation_p.K861N	p.K862N	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			12	2779	-			861			RRM.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2586G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168384	0.57584	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.72	2.68	0.31781	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.051752	0.64402	D	0.000001	T	0.46927	0.1418	L	0.39898	1.24	0.39533	D	0.968692	P;P;P;P	0.45283	0.825;0.828;0.828;0.855	B;B;B;P	0.46110	0.371;0.397;0.397;0.504	T	0.50566	-0.8813	9	0.72032	D	0.01	.	9.6243	0.39741	0.0:0.7299:0.0:0.2701	.	861;859;858;861	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	862;697;861;531;859;862;709	.	ENSP00000315718:K861N	K	-	3	2	KIAA0430	15623144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.066000	0.30604	0.779000	0.33543	0.655000	0.94253	AAG		0.428	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		14	27	1	0	2.31682e-05	0.003163	2.52152e-05	14	27				
ABCC1	4363	broad.mit.edu	37	16	16146667	16146667	+	Silent	SNP	G	G	T	rs566325824	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:16146667G>T	ENST00000399410.3	+	11	1642	c.1467G>T	c.(1465-1467)acG>acT	p.T489T	ABCC1_ENST00000399408.2_Silent_p.T489T|ABCC1_ENST00000345148.5_Silent_p.T489T|ABCC1_ENST00000346370.5_Silent_p.T489T|ABCC1_ENST00000351154.5_Silent_p.T489T|ABCC1_ENST00000349029.5_Silent_p.T489T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	489	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AGACCAAGACGTATCAGGTAA	0.582																																							uc010bvi.2		NA																	0				ovary(4)	4						c.(1465-1467)ACG>ACT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						115.0	116.0	116.0					16																	16146667		2060	4187	6247	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16146667G>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1467G>T	16.37:g.16146667G>T						ABCC1_uc010bvj.2_Silent_p.T489T|ABCC1_uc010bvk.2_Silent_p.T489T|ABCC1_uc010bvl.2_Silent_p.T489T|ABCC1_uc010bvm.2_Silent_p.T489T|ABCC1_uc002del.3_Silent_p.T373T|ABCC1_uc010bvn.2_Silent_p.T352T	p.T489T	NM_004996	NP_004987	P33527	MRP1_HUMAN			11	1642	+			489			Cytoplasmic.|ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.1467G>T	CCDS42122.1																																																																																				0.582	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		42	62	1	0	5.20006e-24	0.002852	8.13666e-24	42	62				
ABCC6P1	653190	broad.mit.edu	37	16	18602570	18602570	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:18602570G>T	ENST00000546162.2	+	0	1144					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		CCTTCCTCCTGGGGACCCTCA	0.597																																							uc002dfg.2		NA																	0					0						c.(766-768)CTG>CTT		SubName: Full=cDNA FLJ51267, highly similar to Multidrug resistance-associated protein 6;																																						653190							g.chr16:18602570G>T	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18602570G>T						ABCC6P1_uc010vam.1_Silent_p.L199L	p.L256L	NR_003569						8	968	+									Silent	SNP	ENST00000546162.2	37	c.768G>T																																																																																					0.597	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		32	49	1	0	1.26612e-14	0.003271	1.68409e-14	32	49				
UMOD	7369	broad.mit.edu	37	16	20355356	20355356	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:20355356G>T	ENST00000570689.1	-	6	1467	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	UMOD_ENST00000396138.4_Missense_Mutation_p.P490T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000424589.1_Missense_Mutation_p.P474T|UMOD_ENST00000396134.2_Missense_Mutation_p.P474T|UMOD_ENST00000396142.2_Missense_Mutation_p.P441T|UMOD_ENST00000302509.4_Missense_Mutation_p.P441T			P07911	UROM_HUMAN	uromodulin	441	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTGACCATTGGCTGTAGGGCG	0.547																																							uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.(1321-1323)CCA>ACA		uromodulin precursor							100.0	88.0	92.0					16																	20355356		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355356G>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1321C>A	16.37:g.20355356G>T	ENSP00000460548:p.Pro441Thr					UMOD_uc002dha.2_Missense_Mutation_p.P441T|UMOD_uc002dhb.2_Missense_Mutation_p.P474T	p.P441T	NM_003361	NP_003352	P07911	UROM_HUMAN			6	1450	-			441			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1321C>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426403	0.62733	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.66	5.66	0.87406	Zona pellucida sperm-binding protein (3);	0.000000	0.50627	D	0.000119	D	0.90174	0.6929	M	0.81682	2.555	0.44254	D	0.997104	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90946	0.4801	10	0.72032	D	0.01	-14.742	17.2449	0.87025	0.0:0.0:1.0:0.0	.	474;441	E9PEA4;P07911	.;UROM_HUMAN	T	441;474;474;441;419;441	ENSP00000379438:P474T;ENSP00000416346:P474T;ENSP00000306279:P441T;ENSP00000379446:P441T	ENSP00000306279:P441T	P	-	1	0	UMOD	20262857	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	5.374000	0.66167	2.667000	0.90743	0.655000	0.94253	CCA		0.547	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			21	27	1	0	1.50039e-11	0.001882	1.88181e-11	21	27				
PDILT	204474	broad.mit.edu	37	16	20376864	20376864	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:20376864T>C	ENST00000302451.4	-	9	1365		c.e9-2			NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed						cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGATGTTTCTAGGAAGCACA	0.448																																							uc002dhc.1		NA																	0				large_intestine(1)	1						c.e9-1		protein disulfide isomerase-like, testis							142.0	143.0	142.0					16																	20376864		2203	4300	6503	SO:0001630	splice_region_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20376864T>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1117-2A>G	16.37:g.20376864T>C							p.K373_splice	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			9	1340	-								Q8IVQ5	Splice_Site	SNP	ENST00000302451.4	37	c.1117_splice	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.077954	0.55753	.	.	ENSG00000169340	ENST00000302451	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0338	0.36275	0.0:0.0:0.186:0.814	.	.	.	.	.	-1	.	.	.	-	.	.	PDILT	20284365	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.042000	0.49815	2.139000	0.66308	0.455000	0.32223	.		0.448	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	Intron	36	53	0	0	0	0.00874	0	36	53				
ACSM2A	123876	broad.mit.edu	37	16	20486999	20486999	+	Nonsense_Mutation	SNP	C	C	A	rs145558453	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:20486999C>A	ENST00000573854.1	+	8	1116	c.1002C>A	c.(1000-1002)tgC>tgA	p.C334*	ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.C334*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.C106*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.C334*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.C334*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.C255*	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	334					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.C334C(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TACAGAACTGCGTCACTGTAG	0.517																																							uc010bwe.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(2)|breast(1)	3						c.(1000-1002)TGC>TGA		acyl-CoA synthetase medium-chain family member							138.0	141.0	140.0					16																	20486999		2203	4300	6503	SO:0001587	stop_gained	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20486999C>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1002C>A	16.37:g.20486999C>A	ENSP00000459451:p.Cys334*					ACSM2A_uc010vax.1_Nonsense_Mutation_p.C255*|ACSM2A_uc002dhf.3_Nonsense_Mutation_p.C334*|ACSM2A_uc002dhg.3_Nonsense_Mutation_p.C334*|ACSM2A_uc010vay.1_Nonsense_Mutation_p.C255*|ACSM2A_uc002dhh.3_5'UTR	p.C334*	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			9	1241	+			334					B3KTT9|O75202	Nonsense_Mutation	SNP	ENST00000573854.1	37	c.1002C>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	38	6.684419	0.97759	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.76	2.75	0.32379	.	0.146929	0.32802	N	0.005634	.	.	.	.	.	.	0.52099	D	0.999941	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.084	5.0522	0.14514	0.0:0.6271:0.1793:0.1936	.	.	.	.	X	255;334;106;334	.	ENSP00000219054:C334X	C	+	3	2	ACSM2A	20394500	0.344000	0.24827	0.018000	0.16275	0.094000	0.18550	0.623000	0.24447	0.639000	0.30564	0.298000	0.19748	TGC		0.517	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		49	84	1	0	1.30916e-28	0.00361	2.16034e-28	49	84				
DNAH3	55567	broad.mit.edu	37	16	21133343	21133343	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:21133343G>A	ENST00000261383.3	-	10	1506	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.P503S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	503	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAAAAGATGGATTGAAGACA	0.378																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1507-1509)CCA>TCA		dynein, axonemal, heavy chain 3							120.0	118.0	119.0					16																	21133343		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21133343G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1507C>T	16.37:g.21133343G>A	ENSP00000261383:p.Pro503Ser					DNAH3_uc002die.2_Missense_Mutation_p.P474S	p.P503S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	10	1507	-			503			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1507C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328590	0.60743	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.60920	0.42;0.15	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.971;0.999	T	0.75838	-0.3176	10	0.59425	D	0.04	.	17.867	0.88797	0.0:0.0:1.0:0.0	.	503;474	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	S	503;503;474	ENSP00000261383:P503S;ENSP00000394245:P503S	ENSP00000261383:P503S	P	-	1	0	DNAH3	21040844	1.000000	0.71417	0.993000	0.49108	0.204000	0.24138	7.127000	0.77210	2.511000	0.84671	0.655000	0.94253	CCA		0.378	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		21	17	0	0	0	0.010504	0	21	17				
ANKS4B	257629	broad.mit.edu	37	16	21261441	21261441	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:21261441C>A	ENST00000311620.5	+	2	627	c.554C>A	c.(553-555)cCt>cAt	p.P185H		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	185					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGATCATCCCCTTCAAATGCT	0.473																																							uc010bwp.1		NA																	0				ovary(2)	2						c.(553-555)CCT>CAT		harmonin-interacting ankyrin-repeat containing							99.0	99.0	99.0					16																	21261441		1965	4157	6122	SO:0001583	missense	257629							g.chr16:21261441C>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.554C>A	16.37:g.21261441C>A	ENSP00000308772:p.Pro185His					CRYM_uc010bwq.1_Intron	p.P185H	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	597	+			185						Missense_Mutation	SNP	ENST00000311620.5	37	c.554C>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.482121	0.01027	.	.	ENSG00000175311	ENST00000311620	T	0.41065	1.01	5.77	2.19	0.27852	.	0.808467	0.11134	N	0.596033	T	0.25717	0.0626	N	0.22421	0.69	0.20403	N	0.999903	B	0.32396	0.369	B	0.31016	0.123	T	0.16928	-1.0386	10	0.45353	T	0.12	1.4463	5.0084	0.14300	0.0:0.3059:0.1539:0.5401	.	185	Q8N8V4	ANS4B_HUMAN	H	185	ENSP00000308772:P185H	ENSP00000308772:P185H	P	+	2	0	ANKS4B	21168942	0.962000	0.33011	0.051000	0.19133	0.186000	0.23388	1.734000	0.38166	0.463000	0.27118	-0.469000	0.05056	CCT		0.473	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		22	36	1	0	1.22574e-08	0.002299	1.44812e-08	22	36				
IL21R	50615	broad.mit.edu	37	16	27456035	27456035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:27456035C>A	ENST00000337929.3	+	6	1153	c.680C>A	c.(679-681)tCa>tAa	p.S227*	IL21R_ENST00000395755.1_Nonsense_Mutation_p.S227*|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Nonsense_Mutation_p.S227*|IL21R_ENST00000564089.1_Nonsense_Mutation_p.S227*|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	227	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CAGACCCAGTCAGAGGGTAGG	0.582			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(679-681)TCA>TAA		interleukin 21 receptor precursor							60.0	56.0	57.0					16																	27456035		2197	4300	6497	SO:0001587	stop_gained	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27456035C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.680C>A	16.37:g.27456035C>A	ENSP00000338010:p.Ser227*					IL21R_uc002dor.1_Nonsense_Mutation_p.S227*|IL21R_uc002dos.1_Nonsense_Mutation_p.S227*	p.S227*	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			6	913	+			227			Extracellular (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Nonsense_Mutation	SNP	ENST00000337929.3	37	c.680C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570467	0.45798	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	.	.	.	4.3	1.18	0.20946	.	0.800555	0.11608	N	0.547081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0171	4.3997	0.11381	0.0:0.5997:0.1866:0.2137	.	.	.	.	X	227	.	ENSP00000338010:S227X	S	+	2	0	IL21R	27363536	0.004000	0.15560	0.004000	0.12327	0.329000	0.28539	1.314000	0.33597	-0.017000	0.14103	-0.305000	0.09177	TCA		0.582	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		17	40	1	0	3.32936e-07	0.006122	3.78318e-07	17	40				
GTF3C1	2975	broad.mit.edu	37	16	27476583	27476583	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:27476583G>T	ENST00000356183.4	-	33	5368	c.5353C>A	c.(5353-5355)Cag>Aag	p.Q1785K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1785K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1785					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGCTCACCTGGATGCAATCT	0.572																																							uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5353-5355)CAG>AAG		general transcription factor IIIC, polypeptide							107.0	86.0	93.0					16																	27476583		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27476583G>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5353C>A	16.37:g.27476583G>T	ENSP00000348510:p.Gln1785Lys					GTF3C1_uc002dou.2_Missense_Mutation_p.Q1785K	p.Q1785K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			33	5393	-			1785					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5353C>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870497	0.33069	.	.	ENSG00000077235	ENST00000356183	T	0.24350	1.86	4.98	4.98	0.66077	.	0.142475	0.48767	D	0.000176	T	0.21186	0.0510	L	0.36672	1.1	0.42091	D	0.991293	P;B	0.34662	0.462;0.347	B;B	0.32465	0.113;0.146	T	0.04565	-1.0942	10	0.21540	T	0.41	-10.5921	16.0507	0.80760	0.0:0.0:1.0:0.0	.	1785;1785	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1785	ENSP00000348510:Q1785K	ENSP00000348510:Q1785K	Q	-	1	0	GTF3C1	27384084	1.000000	0.71417	0.995000	0.50966	0.287000	0.27160	5.180000	0.65048	2.309000	0.77851	0.585000	0.79938	CAG		0.572	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		21	39	1	0	3.5997e-14	0.002299	4.7295e-14	21	39				
GTF3C1	2975	broad.mit.edu	37	16	27497373	27497373	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:27497373T>A	ENST00000356183.4	-	24	3818	c.3803A>T	c.(3802-3804)cAg>cTg	p.Q1268L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1268L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1268					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCCATCCTCCTGCATAGACCA	0.602																																							uc002dov.1		NA																	0		p.Q1268Q(1)		ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3802-3804)CAG>CTG		general transcription factor IIIC, polypeptide							171.0	143.0	153.0					16																	27497373		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27497373T>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3803A>T	16.37:g.27497373T>A	ENSP00000348510:p.Gln1268Leu					GTF3C1_uc002dou.2_Missense_Mutation_p.Q1268L	p.Q1268L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			24	3843	-			1268					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3803A>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751895	0.89753	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25579	1.79	5.4	5.4	0.78164	.	0.127596	0.53938	D	0.000044	T	0.41465	0.1160	M	0.66506	2.035	0.48762	D	0.9997	D;P	0.57257	0.979;0.787	P;P	0.53549	0.729;0.503	T	0.27706	-1.0066	10	0.45353	T	0.12	-21.2469	15.1055	0.72319	0.0:0.0:0.0:1.0	.	1268;1268	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1268;1264	ENSP00000348510:Q1268L	ENSP00000348510:Q1268L	Q	-	2	0	GTF3C1	27404874	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.434000	0.59935	2.044000	0.60594	0.459000	0.35465	CAG		0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		57	71	0	0	0	0.00361	0	57	71				
APOBR	55911	broad.mit.edu	37	16	28507384	28507384	+	Missense_Mutation	SNP	C	C	T	rs560675961		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:28507384C>T	ENST00000431282.1	+	2	1032	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	APOBR_ENST00000564831.1_Missense_Mutation_p.S341L|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.S341L|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	341	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGATAGCCTCAGGCGGGGAG	0.721													C|||	1	0.000199681	0.0	0.0	5008	,	,		12111	0.0		0.0	False		,,,				2504	0.001						uc002dqb.1		NA																	0					0						c.(1021-1023)TCA>TTA		apolipoprotein B48 receptor							11.0	13.0	13.0					16																	28507384		1844	3976	5820	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507384C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1022C>T	16.37:g.28507384C>T	ENSP00000416094:p.Ser341Leu					uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	p.S341L	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			2	1032	+			341			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1022C>T		.	.	.	.	.	.	.	.	.	.	C	9.295	1.051666	0.19827	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.61274	0.12;0.12	2.18	-0.962	0.10333	.	.	.	.	.	T	0.32971	0.0847	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.13407	0.009	T	0.17349	-1.0372	9	0.25751	T	0.34	.	5.1019	0.14764	0.2281:0.546:0.2259:0.0	.	332	Q9NS13	.	L	341	ENSP00000327669:S341L;ENSP00000416094:S341L	ENSP00000327669:S341L	S	+	2	0	APOBR	28414885	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.260000	0.08708	0.150000	0.19136	0.448000	0.29417	TCA		0.721	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		10	16	0	0	0	0.008291	0	10	16				
ATP2A1	487	broad.mit.edu	37	16	28909350	28909350	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:28909350C>T	ENST00000357084.3	+	13	1716	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	ATP2A1_ENST00000395503.4_Silent_p.F483F|ATP2A1_ENST00000536376.1_Silent_p.F358F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	483					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGAAGGAATTCACCCTGGAGT	0.512																																							uc002dro.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1447-1449)TTC>TTT		ATPase, Ca++ transporting, fast twitch 1 isoform							127.0	132.0	130.0					16																	28909350		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909350C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1449C>T	16.37:g.28909350C>T						uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.F483F|ATP2A1_uc002drp.1_Silent_p.F358F	p.F483F	NM_173201	NP_775293	O14983	AT2A1_HUMAN			13	1633	+			483			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.1449C>T	CCDS10643.1																																																																																				0.512	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		46	79	0	0	0	0.002852	0	46	79				
CD19	930	broad.mit.edu	37	16	28948976	28948976	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:28948976G>T	ENST00000324662.3	+	11	1448	c.1404G>T	c.(1402-1404)ctG>ctT	p.L468L	CD19_ENST00000538922.1_Silent_p.L468L|CD19_ENST00000567541.1_Silent_p.L468L			P15391	CD19_HUMAN	CD19 molecule	468					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGAAGAGCTGACCCAGCCGG	0.572																																							uc002drs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1402-1404)CTG>CTT		CD19 antigen precursor							73.0	75.0	74.0					16																	28948976		2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948976G>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1404G>T	16.37:g.28948976G>T						uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L468L	p.L468L	NM_001770	NP_001761	P15391	CD19_HUMAN			11	1466	+			468			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.1404G>T	CCDS10644.1																																																																																				0.572	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			13	26	1	0	0.000219431	0.00245	0.000232792	13	26				
MAPK3	5595	broad.mit.edu	37	16	30128053	30128053	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:30128053C>A	ENST00000263025.4	-	8	1160	c.1076G>T	c.(1075-1077)cGg>cTg	p.R359L	MAPK3_ENST00000484663.1_Missense_Mutation_p.R245L|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000322266.5_Missense_Mutation_p.R315L|GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000395202.1_Missense_Mutation_p.R315L|MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000395200.1_Missense_Mutation_p.R291L	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	359					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	CTCCTTCAGCCGCTCCTTAGG	0.642																																							uc002dws.2		NA																	0					0						c.(1075-1077)CGG>CTG		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						54.0	57.0	56.0					16																	30128053		2197	4300	6497	SO:0001583	missense	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30128053C>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1076G>T	16.37:g.30128053C>A	ENSP00000263025:p.Arg359Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.R245L|MAPK3_uc002dwv.3_Missense_Mutation_p.R315L|MAPK3_uc002dwt.2_3'UTR|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	p.R359L	NM_002746	NP_002737	P27361	MK03_HUMAN			8	1176	-			359					A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	c.1076G>T	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396313	0.42512	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000395200;ENST00000395202;ENST00000478356	T;T;T;T;T;T	0.76186	-1.0;-0.93;-0.96;0.73;-0.96;2.77	5.79	3.83	0.44106	Protein kinase-like domain (1);	0.278569	0.35067	N	0.003468	T	0.62502	0.2433	L	0.42487	1.325	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.16289	0.015;0.002	T	0.56842	-0.7912	10	0.45353	T	0.12	-1.6735	5.2885	0.15714	0.0:0.6127:0.1493:0.2381	.	315;359	P27361-2;P27361	.;MK03_HUMAN	L	359;245;315;291;315;122	ENSP00000263025:R359L;ENSP00000432742:R245L;ENSP00000327293:R315L;ENSP00000378626:R291L;ENSP00000378628:R315L;ENSP00000432292:R122L	ENSP00000263025:R359L	R	-	2	0	MAPK3	30035554	0.965000	0.33210	0.959000	0.39883	0.991000	0.79684	0.544000	0.23253	0.787000	0.33731	0.655000	0.94253	CGG		0.642	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			28	34	1	0	4.59853e-10	0.005443	5.5864e-10	28	34				
SETD1A	9739	broad.mit.edu	37	16	30977498	30977498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:30977498G>T	ENST00000262519.8	+	8	2982	c.2296G>T	c.(2296-2298)Gga>Tga	p.G766*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	766					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCAGTCTCGGGAGAGGAGGC	0.677																																							uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(2296-2298)GGA>TGA		SET domain containing 1A							18.0	20.0	20.0					16																	30977498		2188	4289	6477	SO:0001587	stop_gained	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977498G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2296G>T	16.37:g.30977498G>T	ENSP00000262519:p.Gly766*						p.G766*	NM_014712	NP_055527	O15047	SET1A_HUMAN			8	2982	+			766					A6NP62|Q6PIF3|Q8TAJ6	Nonsense_Mutation	SNP	ENST00000262519.8	37	c.2296G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	42	9.585066	0.99211	.	.	ENSG00000099381	ENST00000262519	.	.	.	5.59	3.59	0.41128	.	0.394083	0.24096	N	0.041593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.8095	0.46538	0.0736:0.1304:0.7959:0.0	.	.	.	.	X	766	.	ENSP00000262519:G766X	G	+	1	0	SETD1A	30884999	0.969000	0.33509	0.919000	0.36401	0.354000	0.29330	2.230000	0.42999	1.346000	0.45694	-0.176000	0.13171	GGA		0.677	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		16	13	1	0	6.72482e-11	0.003163	8.32105e-11	16	13				
SETD1A	9739	broad.mit.edu	37	16	30990664	30990664	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:30990664C>T	ENST00000262519.8	+	14	4243	c.3557C>T	c.(3556-3558)cCg>cTg	p.P1186L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1186	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCAGCCACACCGCCGCAGGCC	0.687																																							uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(3556-3558)CCG>CTG		SET domain containing 1A							16.0	20.0	19.0					16																	30990664		2175	4262	6437	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30990664C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3557C>T	16.37:g.30990664C>T	ENSP00000262519:p.Pro1186Leu						p.P1186L	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4243	+			1186			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.3557C>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	1.785	-0.480971	0.04383	.	.	ENSG00000099381	ENST00000262519	D	0.94232	-3.38	5.03	0.888	0.19206	.	0.311191	0.30285	N	0.009972	D	0.85588	0.5731	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68815	-0.5309	10	0.15952	T	0.53	.	7.7433	0.28853	0.0:0.5582:0.0:0.4418	.	1186	O15047	SET1A_HUMAN	L	1186	ENSP00000262519:P1186L	ENSP00000262519:P1186L	P	+	2	0	SETD1A	30898165	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.030000	0.12308	-0.056000	0.13221	-0.252000	0.11476	CCG		0.687	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		12	29	0	0	0	0.003163	0	12	29				
FUS	2521	broad.mit.edu	37	16	31196353	31196353	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31196353G>C	ENST00000254108.7	+	6	722	c.617G>C	c.(616-618)gGt>gCt	p.G206A	FUS_ENST00000568685.1_Missense_Mutation_p.G206A|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000380244.3_Missense_Mutation_p.G205A	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	206	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggcagcggtggCTATGGA	0.632			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																		uc002ebf.2		NA		Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1		liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma	FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	0				soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958						c.(616-618)GGT>GCT		fusion (involved in t(12;16) in malignant							54.0	44.0	47.0					16																	31196353		2197	4300	6497	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31196353G>C	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.617G>C	16.37:g.31196353G>C	ENSP00000254108:p.Gly206Ala					FUS_uc002ebe.1_Missense_Mutation_p.G202A|FUS_uc002ebh.2_Missense_Mutation_p.G205A|FUS_uc002ebg.2_Missense_Mutation_p.V13L|FUS_uc002ebi.2_Missense_Mutation_p.G206A|FUS_uc002ebj.2_Missense_Mutation_p.V13L|FUS_uc002ebk.1_5'Flank	p.G206A	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	6	700	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	206			Gly-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.617G>C	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	G	6.725	0.502471	0.12822	.	.	ENSG00000089280	ENST00000254108	D	0.99259	-5.64	5.32	3.29	0.37713	.	0.203139	0.39475	N	0.001354	D	0.97269	0.9107	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.22003	0.018;0.031;0.018;0.063	B;B;B;B	0.21360	0.015;0.034;0.015;0.025	D	0.93783	0.7085	10	0.62326	D	0.03	3.865	11.0882	0.48099	0.1267:0.0:0.8733:0.0	.	206;205;206;204	Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;FUS_HUMAN;.	A	206	ENSP00000254108:G206A	ENSP00000254108:G206A	G	+	2	0	FUS	31103854	0.850000	0.29656	0.002000	0.10522	0.001000	0.01503	5.216000	0.65246	0.567000	0.29293	-0.302000	0.09304	GGT		0.632	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		8	13	0	0	0	0.00308	0	8	13				
PYDC1	260434	broad.mit.edu	37	16	31230804	31230804	+	5'Flank	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31230804G>T	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.E227D	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGGTCCTGGAGGAGGTGGCGG	0.667																																							uc002ebn.1		NA																	0					0						c.(679-681)GAG>GAT		tripartite motif-containing 72							30.0	36.0	34.0					16																	31230804		2197	4300	6497	SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230804G>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230804G>T	Exception_encountered					PYDC1_uc002ebo.2_5'Flank	p.E227D	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			4	910	+			227					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.681G>T	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840876	0.32513	.	.	ENSG00000177238	ENST00000322122	T	0.66815	-0.23	5.28	0.389	0.16269	.	0.551444	0.18220	N	0.147919	T	0.33644	0.0870	N	0.01048	-1.04	0.37872	D	0.930094	B	0.02656	0.0	B	0.01281	0.0	T	0.24368	-1.0162	10	0.62326	D	0.03	.	9.9298	0.41514	0.0:0.161:0.517:0.322	.	227	Q6ZMU5	TRI72_HUMAN	D	227	ENSP00000312675:E227D	ENSP00000312675:E227D	E	+	3	2	TRIM72	31138305	0.109000	0.22037	1.000000	0.80357	0.975000	0.68041	-1.353000	0.02617	0.562000	0.29204	0.591000	0.81541	GAG		0.667	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		15	23	1	0	0.000219431	0.00245	0.000232792	15	23				
ITGAX	3687	broad.mit.edu	37	16	31382974	31382974	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31382974T>A	ENST00000268296.4	+	17	2150	c.2029T>A	c.(2029-2031)Ttg>Atg	p.L677M	ITGAX_ENST00000562522.1_Missense_Mutation_p.L677M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	677					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCTGTGACCTTGGACCTGGC	0.637																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2029-2031)TTG>ATG		integrin alpha X precursor							75.0	72.0	73.0					16																	31382974		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382974T>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2029T>A	16.37:g.31382974T>A	ENSP00000268296:p.Leu677Met					ITGAX_uc002ebt.2_Missense_Mutation_p.L677M	p.L677M	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2096	+			677			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2029T>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825396	0.32237	.	.	ENSG00000140678	ENST00000268296	T	0.47869	0.83	5.4	3.12	0.35913	Integrin alpha-2 (1);	.	.	.	.	T	0.39682	0.1087	N	0.14661	0.345	0.20873	N	0.99984	D	0.58620	0.983	P	0.52267	0.694	T	0.21177	-1.0253	9	0.87932	D	0	.	8.0525	0.30585	0.1322:0.0:0.1392:0.7286	.	677	P20702	ITAX_HUMAN	M	677	ENSP00000268296:L677M	ENSP00000268296:L677M	L	+	1	2	ITGAX	31290475	0.994000	0.37717	0.953000	0.39169	0.007000	0.05969	1.708000	0.37899	0.076000	0.16826	-1.255000	0.01485	TTG		0.637	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		32	38	0	0	0	0.004289	0	32	38				
ITGAX	3687	broad.mit.edu	37	16	31393210	31393210	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31393210C>A	ENST00000268296.4	+	30	3595	c.3474C>A	c.(3472-3474)agC>agA	p.S1158R	ITGAX_ENST00000562522.1_Missense_Mutation_p.S1158R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1158					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACCCCCAGCCCGCCCAGTG	0.562																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3472-3474)AGC>AGA		integrin alpha X precursor							124.0	132.0	129.0					16																	31393210		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31393210C>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3474C>A	16.37:g.31393210C>A	ENSP00000268296:p.Ser1158Arg					ITGAX_uc002ebt.2_Missense_Mutation_p.S1158R	p.S1158R	NM_000887	NP_000878	P20702	ITAX_HUMAN			30	3541	+			1158			Cytoplasmic (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3474C>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164843	0.09287	.	.	ENSG00000140678	ENST00000268296	T	0.58797	0.31	5.44	-2.01	0.07410	.	.	.	.	.	T	0.31827	0.0809	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15206	-1.0445	9	0.34782	T	0.22	.	2.867	0.05604	0.0851:0.2734:0.2534:0.3881	.	1158;343	P20702;Q8TES5	ITAX_HUMAN;.	R	1158	ENSP00000268296:S1158R	ENSP00000268296:S1158R	S	+	3	2	ITGAX	31300711	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.010000	0.13242	0.042000	0.15717	-1.058000	0.02302	AGC		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		31	34	1	0	4.74835e-14	0.002096	6.22176e-14	31	34				
ARMC5	79798	broad.mit.edu	37	16	31471207	31471207	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31471207C>T	ENST00000563544.1	+	2	908	c.362C>T	c.(361-363)cCg>cTg	p.P121L	ARMC5_ENST00000538189.1_Missense_Mutation_p.P153L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000457010.2_Missense_Mutation_p.P121L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P216L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P121L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	121										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTCCTACGCCGCCAGTGCGC	0.731																																							uc002ecc.2		NA																	0				pancreas(1)	1						c.(361-363)CCG>CTG		armadillo repeat containing 5 isoform a							20.0	20.0	20.0					16																	31471207		1908	4077	5985	SO:0001583	missense	79798						binding	g.chr16:31471207C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.362C>T	16.37:g.31471207C>T	ENSP00000456877:p.Pro121Leu					ARMC5_uc010vfn.1_Missense_Mutation_p.P216L|ARMC5_uc010vfo.1_Missense_Mutation_p.P153L|ARMC5_uc002eca.3_Missense_Mutation_p.P121L|ARMC5_uc010vfp.1_Missense_Mutation_p.P121L|ARMC5_uc002ecb.2_Missense_Mutation_p.P121L	p.P121L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			1	891	+			121					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.362C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	C	8.715	0.913050	0.17907	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	3.31	-0.0127	0.13987	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.58432	D	0.999999	B;B;B;B;B	0.17465	0.001;0.001;0.012;0.001;0.022	B;B;B;B;B	0.08055	0.002;0.002;0.002;0.001;0.003	T	0.10154	-1.0642	9	0.18276	T	0.48	-15.8859	3.3412	0.07119	0.2002:0.5653:0.0:0.2345	.	153;153;216;121;121	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	L	216;153;121;121	ENSP00000386125:P216L;ENSP00000443995:P153L;ENSP00000268314:P121L;ENSP00000399561:P121L	ENSP00000268314:P121L	P	+	2	0	ARMC5	31378708	0.827000	0.29292	0.653000	0.29593	0.310000	0.27922	0.352000	0.20113	0.047000	0.15862	-0.314000	0.08810	CCG		0.731	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		11	11	0	0	0	0.008291	0	11	11				
ZNF267	10308	broad.mit.edu	37	16	31926245	31926245	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:31926245G>C	ENST00000300870.10	+	4	884	c.675G>C	c.(673-675)ttG>ttC	p.L225F		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	225					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAACCTTGAACCAAAGCT	0.303																																							uc002ecs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(673-675)TTG>TTC		zinc finger protein 267							25.0	27.0	26.0					16																	31926245		2189	4283	6472	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926245G>C	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.675G>C	16.37:g.31926245G>C	ENSP00000300870:p.Leu225Phe						p.L225F	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	884	+			225					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.675G>C	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	0.752	-0.772540	0.02951	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06449	3.3	0.458	0.458	0.16670	.	.	.	.	.	T	0.01320	0.0043	N	0.00473	-1.45	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.47302	-0.9128	9	0.02654	T	1	.	3.4308	0.07428	0.0:1.0E-4:0.5486:0.4513	.	225	Q14586	ZN267_HUMAN	F	225;192	ENSP00000300870:L225F	ENSP00000300870:L225F	L	+	3	2	ZNF267	31833746	0.000000	0.05858	0.019000	0.16419	0.018000	0.09664	-2.572000	0.00912	0.482000	0.27582	0.484000	0.47621	TTG		0.303	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		10	12	0	0	0	0.006214	0	10	12				
Unknown	0	broad.mit.edu	37	16	33784664	33784664	+	IGR	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:33784664T>A								RP11-812E19.3 (6920 upstream) : AC136932.2 (161284 downstream)																							GGCATCTTCATCTTCAACGTT	0.632																																							uc010vgb.1		NA																	0					NA						c.(52-54)ATC>AAC		RecName: Full=Transporter;																																				SO:0001628	intergenic_variant	0							g.chr16:33784664T>A																													16.37:g.33784664T>A							p.I18N							2	73	+									Missense_Mutation	SNP		37	c.53T>A		.	.	.	.	.	.	.	.	.	.	.	4.584	0.108521	0.08780	.	.	ENSG00000198555	ENST00000359871	.	.	.	2.12	2.12	0.27331	.	0.211148	0.30101	U	0.010413	T	0.64583	0.2611	.	.	.	.	.	.	D	0.65815	0.995	D	0.66847	0.947	T	0.71994	-0.4424	6	.	.	.	.	8.1643	0.31217	0.0:0.0:0.0:1.0	.	70	F8WED4	.	N	70	.	.	I	+	2	0	AC133561.1	33692165	1.000000	0.71417	0.999000	0.59377	0.138000	0.21146	4.696000	0.61774	1.231000	0.43661	0.163000	0.16589	ATC	0	0.632									6	26	0	0	0	0.001984	0	6	26				
Unknown	0	broad.mit.edu	37	16	33784689	33784689	+	IGR	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:33784689G>T								RP11-812E19.3 (6945 upstream) : AC136932.2 (161259 downstream)																							ACTACGAGCCGCTGGTCTACA	0.637																																							uc010vgb.1		NA																	0					NA						c.(76-78)CCG>CCT		RecName: Full=Transporter;																																				SO:0001628	intergenic_variant	0							g.chr16:33784689G>T																													16.37:g.33784689G>T							p.P26P							2	98	+									Silent	SNP		37	c.78G>T																																																																																				0	0.637									6	30	1	0	8.12818e-05	0.001984	8.70909e-05	6	30				
MYLK3	91807	broad.mit.edu	37	16	46755035	46755035	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:46755035C>A	ENST00000394809.4	-	9	2100	c.1985G>T	c.(1984-1986)aGg>aTg	p.R662M	MYLK3_ENST00000536476.1_Splice_Site_p.R321M	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	662	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCCCCTTACCTTCTGGCCAG	0.448																																							uc002eei.3		NA																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1984-1986)AGG>ATG		myosin light chain kinase 3							126.0	132.0	130.0					16																	46755035		2203	4300	6503	SO:0001630	splice_region_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46755035C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1985+1G>T	16.37:g.46755035C>A						MYLK3_uc010vge.1_Missense_Mutation_p.R321M	p.R662M	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			9	2101	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	662			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1985G>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130969	0.77549	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.65364	-0.15;-0.15	5.09	5.09	0.68999	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	0.39475	N	0.001352	T	0.72598	0.3480	L	0.39633	1.23	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	T	0.70342	-0.4898	9	.	.	.	.	18.8594	0.92266	0.0:1.0:0.0:0.0	.	662	Q32MK0	MYLK3_HUMAN	M	662;321	ENSP00000378288:R662M;ENSP00000439297:R321M	.	R	-	2	0	MYLK3	45312536	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.661000	0.54503	2.517000	0.84864	0.557000	0.71058	AGG		0.448	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	Missense_Mutation	33	14	1	0	1.26612e-14	0.003271	1.68409e-14	33	14				
ABCC12	94160	broad.mit.edu	37	16	48174658	48174658	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:48174658G>T	ENST00000311303.3	-	4	942	c.597C>A	c.(595-597)tcC>tcA	p.S199S	ABCC12_ENST00000448542.1_Silent_p.S199S|ABCC12_ENST00000416054.1_Silent_p.S199S	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	199	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAACCAAGGTGGAGAGCGCCA	0.517																																							uc002efc.1		NA																	0				ovary(2)|skin(1)	3						c.(595-597)TCC>TCA		ATP-binding cassette protein C12							109.0	113.0	112.0					16																	48174658		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48174658G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.597C>A	16.37:g.48174658G>T						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.S199S|ABCC12_uc010vgj.1_RNA	p.S199S	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			4	943	-		all_cancers(37;0.0474)|all_lung(18;0.047)	199			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.597C>A	CCDS10730.1																																																																																				0.517	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		47	20	1	0	1.47857e-17	0.00361	2.08423e-17	47	20				
ZNF423	23090	broad.mit.edu	37	16	49671721	49671721	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:49671721C>A	ENST00000561648.1	-	4	1395	c.1342G>T	c.(1342-1344)Gac>Tac	p.D448Y	ZNF423_ENST00000563137.2_Missense_Mutation_p.D388Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.D388Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.D388Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.D331Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.D448Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.D331Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	448					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCATGGAGTCCAGGCAGATC	0.567																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1342-1344)GAC>TAC		zinc finger protein 423							147.0	127.0	134.0					16																	49671721		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671721C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1342G>T	16.37:g.49671721C>A	ENSP00000455426:p.Asp448Tyr					ZNF423_uc010vgn.1_Missense_Mutation_p.D331Y	p.D448Y	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1640	-		all_cancers(37;0.0155)	448			C2H2-type 10.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1342G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359090	0.61403	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27402	1.67;1.67	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.095675	0.64402	D	0.000001	T	0.37839	0.1018	N	0.24115	0.695	0.52501	D	0.999954	D	0.56746	0.977	P	0.58266	0.836	T	0.09751	-1.0660	9	.	.	.	.	18.4335	0.90634	0.0:1.0:0.0:0.0	.	448	Q2M1K9	ZN423_HUMAN	Y	448;331	ENSP00000262383:D448Y;ENSP00000442321:D331Y	.	D	-	1	0	ZNF423	48229222	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.346000	0.79739	0.561000	0.74099	GAC		0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		44	18	1	0	9.84934e-19	0.002522	1.41942e-18	44	18				
HERPUD1	9709	broad.mit.edu	37	16	56976133	56976133	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:56976133C>T	ENST00000439977.2	+	7	1192	c.995C>T	c.(994-996)cCc>cTc	p.P332L	RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000379792.2_Missense_Mutation_p.P307L|HERPUD1_ENST00000300302.5_Missense_Mutation_p.P331L|HERPUD1_ENST00000344114.4_Missense_Mutation_p.P173L|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	332					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AATCAGGACCCCAACAATAAC	0.512			T	ERG	prostate																																		uc002eke.1		NA		Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0					0						c.(994-996)CCC>CTC		homocysteine-inducible, endoplasmic reticulum							150.0	125.0	133.0					16																	56976133		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56976133C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.995C>T	16.37:g.56976133C>T	ENSP00000409555:p.Pro332Leu					HERPUD1_uc002ekf.1_Missense_Mutation_p.P331L|HERPUD1_uc002ekg.1_Missense_Mutation_p.P307L|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.P234L|HERPUD1_uc002ekh.1_Missense_Mutation_p.P150L	p.P332L	NM_014685	NP_055500	Q15011	HERP1_HUMAN			7	1404	+			332			Cytoplasmic (Potential).		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.995C>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146588	0.37923	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T	0.43294	2.08;0.95	5.66	5.66	0.87406	.	0.469142	0.25878	N	0.027719	T	0.58935	0.2157	M	0.61703	1.905	0.54753	D	0.999987	D;B;B;B	0.76494	0.999;0.001;0.001;0.001	D;B;B;B	0.72075	0.976;0.002;0.004;0.002	T	0.53107	-0.8485	10	0.33940	T	0.23	-17.1809	12.6907	0.56972	0.2564:0.7436:0.0:0.0	.	173;307;331;332	Q15011-3;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	L	331;307;332;173	ENSP00000369118:P307L;ENSP00000340931:P173L	ENSP00000300302:P332L	P	+	2	0	HERPUD1	55533634	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.182000	0.42556	2.830000	0.97506	0.655000	0.94253	CCC		0.512	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			29	19	0	0	0	0.007291	0	29	19				
GPR56	9289	broad.mit.edu	37	16	57689409	57689409	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:57689409C>T	ENST00000388812.4	+	6	1307	c.867C>T	c.(865-867)ctC>ctT	p.L289L	GPR56_ENST00000379696.3_Silent_p.L289L|GPR56_ENST00000540164.2_Silent_p.L289L|GPR56_ENST00000538815.1_Silent_p.L289L|GPR56_ENST00000388813.5_Silent_p.L289L|GPR56_ENST00000562631.1_Silent_p.L289L|GPR56_ENST00000567835.1_Silent_p.L289L|GPR56_ENST00000562558.1_Silent_p.L289L|GPR56_ENST00000544297.1_Silent_p.L114L|GPR56_ENST00000568909.1_Silent_p.L289L|GPR56_ENST00000379694.4_Silent_p.L119L|GPR56_ENST00000456916.1_Silent_p.L289L|GPR56_ENST00000568908.1_Silent_p.L289L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	289					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AGAGACTCCTCCTGGTGGACT	0.572																																							uc002emb.2		NA																	0					0						c.(865-867)CTC>CTT		G protein-coupled receptor 56 isoform a							52.0	53.0	53.0					16																	57689409		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57689409C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.867C>T	16.37:g.57689409C>T						GPR56_uc002elz.1_Silent_p.L119L|GPR56_uc002ema.1_Silent_p.L114L|GPR56_uc002emc.2_Silent_p.L289L|GPR56_uc002emf.2_Silent_p.L289L|GPR56_uc010vhs.1_Silent_p.L289L|GPR56_uc002emd.2_Silent_p.L289L|GPR56_uc002eme.2_Silent_p.L289L|GPR56_uc010vht.1_Silent_p.L294L|GPR56_uc002emg.3_Silent_p.L289L|GPR56_uc010vhu.1_Silent_p.L114L	p.L289L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			7	1159	+			289			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.867C>T	CCDS32460.1																																																																																				0.572	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			16	7	0	0	0	0.007413	0	16	7				
SLC9A5	6553	broad.mit.edu	37	16	67298304	67298304	+	Missense_Mutation	SNP	G	G	C	rs200168021		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:67298304G>C	ENST00000299798.11	+	13	1957	c.1892G>C	c.(1891-1893)cGg>cCg	p.R631P	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	631					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCGCAGGAGCGGCAGGACAAG	0.582																																							uc002esm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1891-1893)CGG>CCG		solute carrier family 9 (sodium/hydrogen							29.0	35.0	33.0					16																	67298304		2178	4287	6465	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67298304G>C		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1892G>C	16.37:g.67298304G>C	ENSP00000299798:p.Arg631Pro					SLC9A5_uc010cee.2_Missense_Mutation_p.R336P|SLC9A5_uc010vji.1_Missense_Mutation_p.R135P	p.R631P	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	13	1955	+		Ovarian(137;0.0563)	631					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1892G>C	CCDS42178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.997939|2.997939	0.54147|0.54147	.|.	.|.	ENSG00000135740|ENSG00000135740	ENST00000360183|ENST00000299798	.|T	.|0.56941	.|0.43	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.066471	.|0.64402	.|D	.|0.000009	T|T	0.71467|0.71467	0.3343|0.3343	M|M	0.65498|0.65498	2.005|2.005	0.54753|0.54753	D|D	0.999988|0.999988	.|D	.|0.71674	.|0.998	.|D	.|0.79108	.|0.992	T|T	0.71126|0.71126	-0.4683|-0.4683	6|10	0.51188|0.48119	T|T	0.08|0.1	.|.	18.3615|18.3615	0.90376|0.90376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|631	.|Q14940	.|SL9A5_HUMAN	R|P	145|631	.|ENSP00000299798:R631P	ENSP00000353311:G145R|ENSP00000299798:R631P	G|R	+|+	1|2	0|0	SLC9A5|SLC9A5	65855805|65855805	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.971000|0.971000	0.66376|0.66376	6.274000|6.274000	0.72587|0.72587	2.659000|2.659000	0.90383|0.90383	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.582	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			20	10	0	0	0	0.008871	0	20	10				
GFOD2	81577	broad.mit.edu	37	16	67709088	67709089	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:67709088_67709089CA>AG	ENST00000268797.7	-	3	1472_1473	c.1127_1128TG>CT	c.(1126-1128)cTG>cCT	p.L376P	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	376					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GTGCCTCACACAGGTTCTGGTT	0.624																																							uc002eub.2		NA																	0				ovary(2)|skin(1)	3						c.(1126-1128)CTG>CCT		glucose-fructose oxidoreductase domain																																				SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709088_67709089CA>AG	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.1127_1128delinsAG	16.37:g.67709088_67709089delinsAG	ENSP00000268797:p.Leu376Pro					GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.L271P	p.L376P	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1422_1423	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	376					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	DNP	ENST00000268797.7	37	c.1127_1128TG>CT	CCDS10845.1																																																																																				0.624	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		43	28	0	0	0	0.004672	0	43	28				
CIRH1A	84916	broad.mit.edu	37	16	69184491	69184491	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:69184491C>A	ENST00000314423.7	+	7	967	c.790C>A	c.(790-792)Cag>Aag	p.Q264K	CIRH1A_ENST00000352319.4_Missense_Mutation_p.Q264K|CIRH1A_ENST00000563094.1_Missense_Mutation_p.Q264K|CIRH1A_ENST00000569615.2_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	264					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTTCCATTTTCAGCTGGTCCC	0.527											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(69;1156 1278 4951 8715 52012)	Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3		NA																	0					0						c.(790-792)CAG>AAG		cirhin							148.0	137.0	141.0					16																	69184491		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69184491C>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.790C>A	16.37:g.69184491C>A	ENSP00000327179:p.Gln264Lys		OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1112	CIRH1A_uc002ewr.2_Missense_Mutation_p.Q264K|CIRH1A_uc002ewt.3_Missense_Mutation_p.Q181K|CIRH1A_uc010cfi.2_Missense_Mutation_p.Q181K|CIRH1A_uc010cfj.1_Missense_Mutation_p.Q83K	p.Q264K	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	7	886	+			264			WD 6.		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.790C>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864356	0.32977	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.33654	1.6;1.4	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.051547	0.85682	D	0.000000	T	0.44808	0.1311	L	0.37630	1.12	0.51767	D	0.999935	D;B;P	0.57899	0.981;0.296;0.607	P;B;B	0.57911	0.829;0.041;0.187	T	0.09015	-1.0694	10	0.31617	T	0.26	.	15.2949	0.73898	0.0:0.8603:0.1397:0.0	.	264;264;264	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	K	264	ENSP00000327179:Q264K;ENSP00000339164:Q264K	ENSP00000327179:Q264K	Q	+	1	0	CIRH1A	67741992	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.264000	0.65513	2.777000	0.95525	0.508000	0.49915	CAG		0.527	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		36	24	1	0	1.66425e-11	0.004878	2.08597e-11	36	24				
GLG1	2734	broad.mit.edu	37	16	74487121	74487121	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:74487121C>A	ENST00000422840.2	-	26	3483	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	GLG1_ENST00000447066.2_Missense_Mutation_p.G1151C|GLG1_ENST00000205061.5_Missense_Mutation_p.G1162C	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1162					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACATCAGGCCAATCAGGAAC	0.488																																							uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(3484-3486)GGC>TGC		golgi apparatus protein 1 isoform 3							266.0	222.0	237.0					16																	74487121		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74487121C>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3484G>T	16.37:g.74487121C>A	ENSP00000405984:p.Gly1162Cys					GLG1_uc002fcx.2_Missense_Mutation_p.G1162C|GLG1_uc002fcw.3_Missense_Mutation_p.G1151C|GLG1_uc002fcz.3_Missense_Mutation_p.G579C	p.G1162C	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			26	3534	-			1162			Helical; (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.3484G>T	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029918	0.93575	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84372	0.0544	9	0.87932	D	0	-13.7728	20.1238	0.97972	0.0:1.0:0.0:0.0	.	292;1162;1162;1151	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	C	1162;1151;1162	.	ENSP00000205061:G1162C	G	-	1	0	GLG1	73044622	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.727000	0.68523	2.758000	0.94735	0.514000	0.50259	GGC		0.488	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		35	24	1	0	1.30998e-17	0.005524	1.84928e-17	35	24				
RFWD3	55159	broad.mit.edu	37	16	74662385	74662385	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:74662385T>A	ENST00000361070.4	-	11	2031	c.1934A>T	c.(1933-1935)aAc>aTc	p.N645I	RFWD3_ENST00000571750.1_Missense_Mutation_p.N645I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	645					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCGGGAGCTGTTCTCTGTCTG	0.522																																							uc002fda.2		NA																	0				lung(2)|breast(1)	3						c.(1933-1935)AAC>ATC		ring finger and WD repeat domain 3							89.0	87.0	87.0					16																	74662385		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74662385T>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1934A>T	16.37:g.74662385T>A	ENSP00000354361:p.Asn645Ile					RFWD3_uc010vmx.1_Missense_Mutation_p.N165I|RFWD3_uc010cgq.2_Missense_Mutation_p.N645I	p.N645I	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			11	2032	-			645					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.1934A>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370246	0.42003	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.18016	2.24	5.53	1.17	0.20885	.	0.467929	0.27109	N	0.020883	T	0.06872	0.0175	N	0.08118	0	0.21527	N	0.999659	B	0.10296	0.003	B	0.06405	0.002	T	0.29181	-1.0020	10	0.33940	T	0.23	-19.2957	4.9591	0.14057	0.1028:0.3892:0.372:0.136	.	645	Q6PCD5	RFWD3_HUMAN	I	645;134	ENSP00000354361:N645I	ENSP00000354361:N645I	N	-	2	0	RFWD3	73219886	0.938000	0.31826	0.994000	0.49952	0.878000	0.50629	0.457000	0.21875	0.282000	0.22254	-0.242000	0.12053	AAC		0.522	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		40	16	0	0	0	0.004878	0	40	16				
MON1B	22879	broad.mit.edu	37	16	77227493	77227493	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:77227493G>A	ENST00000248248.3	+	3	644	c.294G>A	c.(292-294)ggG>ggA	p.G98G	MON1B_ENST00000320859.6_Silent_p.G98G|MON1B_ENST00000439557.2_Intron|MON1B_ENST00000545553.1_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	98										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCAGGGCGGGGACCCCAGTG	0.617																																							uc002fez.2		NA																	0					0						c.(292-294)GGG>GGA		MON1 homolog B							61.0	59.0	60.0					16																	77227493		2198	4300	6498	SO:0001819	synonymous_variant	22879						protein binding	g.chr16:77227493G>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.294G>A	16.37:g.77227493G>A						MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	p.G98G	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			3	624	+			98					B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	37	c.294G>A	CCDS10925.1																																																																																				0.617	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		19	15	0	0	0	0.007413	0	19	15				
ADAD2	161931	broad.mit.edu	37	16	84229633	84229633	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:84229633G>A	ENST00000315906.5	+	7	1317	c.1265G>A	c.(1264-1266)aGc>aAc	p.S422N	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.S504N|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	422	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCACTCTACAGCACCAGCCTC	0.677																																							uc002fhr.2		NA																	0					0						c.(1264-1266)AGC>AAC		adenosine deaminase domain containing 2 isoform							31.0	34.0	33.0					16																	84229633		2200	4300	6500	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229633G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1265G>A	16.37:g.84229633G>A	ENSP00000325153:p.Ser422Asn					ADAD2_uc002fhq.2_Missense_Mutation_p.S504N|uc002fhs.1_Intron	p.S422N	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN			7	1379	+			422			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1265G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665712	0.29604	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93426	-3.22;-3.22	5.49	4.54	0.55810	Adenosine deaminase/editase (2);	0.461996	0.24240	N	0.040273	D	0.85487	0.5708	N	0.08118	0	0.23851	N	0.996665	P;P	0.38767	0.512;0.646	B;B	0.38327	0.121;0.271	T	0.79869	-0.1621	10	0.66056	D	0.02	-15.4661	11.8636	0.52480	0.0:0.7962:0.2038:0.0	.	422;504	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	N	422;504	ENSP00000325153:S422N;ENSP00000268624:S504N	ENSP00000268624:S504N	S	+	2	0	ADAD2	82787134	0.958000	0.32768	0.914000	0.36105	0.353000	0.29299	1.757000	0.38400	1.317000	0.45149	0.561000	0.74099	AGC		0.677	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		16	7	0	0	0	0.004007	0	16	7				
FOXF1	2294	broad.mit.edu	37	16	86544356	86544356	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:86544356A>T	ENST00000262426.4	+	1	224	c.181A>T	c.(181-183)Atc>Ttc	p.I61F	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	61					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGTCATGGCCATCCAGAGTTC	0.647																																							uc002fjl.2		NA																	0					0						c.(181-183)ATC>TTC		forkhead box F1							51.0	53.0	53.0					16																	86544356		2198	4300	6498	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544356A>T	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.181A>T	16.37:g.86544356A>T	ENSP00000262426:p.Ile61Phe					uc002fjk.1_5'Flank	p.I61F	NM_001451	NP_001442	Q12946	FOXF1_HUMAN			1	224	+			61			Fork-head.		B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.181A>T	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454156	0.84209	.	.	ENSG00000103241	ENST00000262426	D	0.97089	-4.24	4.05	4.05	0.47172	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98476	0.9492	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99264	1.0891	10	0.87932	D	0	.	12.1129	0.53850	1.0:0.0:0.0:0.0	.	61	Q12946	FOXF1_HUMAN	F	61	ENSP00000262426:I61F	ENSP00000262426:I61F	I	+	1	0	FOXF1	85101857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.751000	0.91628	1.605000	0.50152	0.528000	0.53228	ATC		0.647	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		13	5	0	0	0	0.001855	0	13	5				
CBFA2T3	863	broad.mit.edu	37	16	88968062	88968062	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:88968062G>T	ENST00000268679.4	-	2	550	c.154C>A	c.(154-156)Cca>Aca	p.P52T	CBFA2T3_ENST00000327483.5_5'UTR|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_5'UTR|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P52T	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	52	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).	Breakpoint for translocation to form type-1 RUNX1-CBFA2T3 fusion protein.			cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTGTCCACTGGGGCTGCGACC	0.667			T	RUNX1	AML																																		uc002fmm.1		NA		Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				large_intestine(3)|ovary(1)	4						c.(154-156)CCA>ACA		myeloid translocation gene on chromosome 16							31.0	35.0	33.0					16																	88968062		2196	4299	6495	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88968062G>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.154C>A	16.37:g.88968062G>T	ENSP00000268679:p.Pro52Thr					CBFA2T3_uc002fml.1_5'UTR|CBFA2T3_uc010cif.1_5'UTR|CBFA2T3_uc002fmn.1_Missense_Mutation_p.P52T	p.P52T	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	2	340	-			52			Mediates localization to the nucleus (By similarity).|Pro-rich.|Mediates interaction with PDE7A (in isoform 2).|Required for nucleolar targeting (in isoform 1).	Breakpoint for translocation to form type-1 RUNX1-CBFA2T3 fusion protein.	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.154C>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	6.556	0.470779	0.12461	.	.	ENSG00000129993	ENST00000268679;ENST00000436887	T;T	0.50548	0.74;0.87	2.91	1.89	0.25635	.	1.080190	0.07380	N	0.887403	T	0.32763	0.0840	N	0.14661	0.345	0.27664	N	0.946964	P;P	0.45531	0.86;0.86	B;B	0.43783	0.129;0.431	T	0.18335	-1.0340	10	0.24483	T	0.36	.	8.1902	0.31363	0.0:0.0:0.7606:0.2394	.	52;52	B2RBQ7;O75081	.;MTG16_HUMAN	T	52	ENSP00000268679:P52T;ENSP00000395739:P52T	ENSP00000268679:P52T	P	-	1	0	CBFA2T3	87495563	0.883000	0.30277	0.001000	0.08648	0.003000	0.03518	0.019000	0.13444	0.518000	0.28383	0.491000	0.48974	CCA		0.667	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		11	6	1	0	0.000673444	0.008291	0.000705548	11	6				
ZNF276	92822	broad.mit.edu	37	16	89789078	89789078	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:89789078G>T	ENST00000443381.2	+	2	442	c.345G>T	c.(343-345)cgG>cgT	p.R115R	ZNF276_ENST00000446326.2_5'UTR|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Silent_p.R40R|ZNF276_ENST00000289816.5_Silent_p.R40R	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	115	ZAD.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCTCGTACGGGACTTCCAGC	0.647																																							uc002fos.3		NA																	0					0						c.(343-345)CGG>CGT		zinc finger protein 276 isoform a							72.0	70.0	71.0					16																	89789078		2198	4300	6498	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789078G>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.345G>T	16.37:g.89789078G>T						C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.R40R|ZNF276_uc002foq.3_Silent_p.R40R|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.R115R	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	442	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	115			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.345G>T	CCDS45554.1																																																																																				0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		35	10	1	0	2.52637e-11	0.005524	3.16042e-11	35	10				
OR1A2	26189	broad.mit.edu	37	17	3101025	3101025	+	Missense_Mutation	SNP	C	C	G	rs141816732		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3101025C>G	ENST00000381951.1	+	1	213	c.213C>G	c.(211-213)atC>atG	p.I71M		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	71					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I71I(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGGTTGACATCATCTTCTCAT	0.483																																							uc002fvd.1		NA																	1	Substitution - coding silent(1)	p.I71I(1)	skin(1)	skin(2)	2						c.(211-213)ATC>ATG		olfactory receptor, family 1, subfamily A,							253.0	212.0	226.0					17																	3101025		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101025C>G	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.213C>G	17.37:g.3101025C>G	ENSP00000371377:p.Ile71Met						p.I71M	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	213	+			71			Helical; Name=2; (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.213C>G	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	C	4.382	0.070476	0.08436	.	.	ENSG00000172150	ENST00000381951	D	0.89875	-2.58	4.09	-0.413	0.12363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	D	0.89357	0.6692	L	0.60067	1.865	0.09310	N	1	D	0.71674	0.998	D	0.66602	0.945	T	0.79867	-0.1622	10	0.62326	D	0.03	.	3.0996	0.06322	0.1231:0.4906:0.12:0.2663	.	71	Q9Y585	OR1A2_HUMAN	M	71	ENSP00000371377:I71M	ENSP00000371377:I71M	I	+	3	3	OR1A2	3047775	0.000000	0.05858	0.510000	0.27712	0.008000	0.06430	-1.103000	0.03329	-0.140000	0.11394	-2.495000	0.00193	ATC		0.483	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		34	204	0	0	0	0.004878	0	34	204				
OR3A2	4995	broad.mit.edu	37	17	3181358	3181358	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3181358T>C	ENST00000408891.2	-	1	910	c.872A>G	c.(871-873)aAc>aGc	p.N291S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	291					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CAGCATAGGGTTGATAACAGT	0.453																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.2		NA																	0				ovary(1)	1						c.(871-873)AAC>AGC		olfactory receptor, family 3, subfamily A,							68.0	72.0	70.0					17																	3181358		2149	4280	6429	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181358T>C	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.872A>G	17.37:g.3181358T>C	ENSP00000386180:p.Asn291Ser						p.N291S	NM_002551	NP_002542	P47893	OR3A2_HUMAN			1	911	-			291			Helical; Name=7; (Potential).		Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.872A>G	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	T	2.486	-0.318488	0.05386	.	.	ENSG00000221882	ENST00000408891	T	0.45668	0.89	4.81	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.138435	0.32987	N	0.005415	T	0.16257	0.0391	N	0.01668	-0.77	0.24034	N	0.996107	B	0.12630	0.006	B	0.16722	0.016	T	0.14172	-1.0482	10	0.32370	T	0.25	-20.1372	9.4062	0.38462	0.0:0.0:0.3221:0.6779	.	291	P47893	OR3A2_HUMAN	S	291	ENSP00000386180:N291S	ENSP00000386180:N291S	N	-	2	0	OR3A2	3128108	0.000000	0.05858	1.000000	0.80357	0.776000	0.43924	0.036000	0.13819	2.150000	0.67090	0.459000	0.35465	AAC		0.453	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			12	48	0	0	0	0.001368	0	12	48				
P2RX5	5026	broad.mit.edu	37	17	3593389	3593389	+	Missense_Mutation	SNP	G	G	A	rs143709684	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3593389G>A	ENST00000225328.5	-	6	987	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	P2RX5_ENST00000552050.1_Missense_Mutation_p.R137C|P2RX5_ENST00000345901.3_Missense_Mutation_p.R173C|P2RX5_ENST00000551178.1_Missense_Mutation_p.R173C|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Missense_Mutation_p.R197C|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.R197C|P2RX5_ENST00000435558.1_Missense_Mutation_p.R197C|P2RX5_ENST00000552276.1_Missense_Mutation_p.R197C	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	197					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TTGGGGAAACGGATGTGGTTC	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		16516	0.001		0.001	False		,,,				2504	0.0						uc002fwi.2		NA																	0					0						c.(589-591)CGT>TGT		purinergic receptor P2X5 isoform A		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	235.0	255.0	248.0		589,517,589,517	2.0	0.7	17	dbSNP_134	248	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	P2RX5	NM_001204519.1,NM_001204520.1,NM_002561.3,NM_175080.2	180,180,180,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	197/422,173/399,197/423,173/398	3593389	3,13003	2203	4300	6503	SO:0001583	missense	5026				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3593389G>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.589C>T	17.37:g.3593389G>A	ENSP00000225328:p.Arg197Cys					P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.R197C|P2RX5_uc010vrx.1_Missense_Mutation_p.R137C|P2RX5_uc002fwj.2_Missense_Mutation_p.R173C|P2RX5_uc002fwk.2_Missense_Mutation_p.R197C|P2RX5_uc002fwl.2_Missense_Mutation_p.R173C	p.R197C	NM_002561	NP_002552	Q93086	P2RX5_HUMAN			6	873	-			197			Extracellular (Potential).		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.589C>T	CCDS11034.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	16.31|16.31	3.087842|3.087842	0.55968|0.55968	0.0|0.0	3.49E-4|3.49E-4	ENSG00000083454|ENSG00000083454	ENST00000552723|ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050	.|T;T;T;T;T;T	.|0.04758	.|3.56;3.56;3.56;3.56;3.56;3.56	5.34|5.34	2.04|2.04	0.26737|0.26737	.|.	.|0.362335	.|0.27577	.|N	.|0.018741	T|T	0.12092|0.12092	0.0294|0.0294	M|M	0.86651|0.86651	2.83|2.83	0.48040|0.48040	D|D	0.999573|0.999573	.|P;B;P;B;P;P	.|0.37663	.|0.506;0.424;0.604;0.424;0.527;0.604	.|B;B;B;B;B;B	.|0.43536	.|0.131;0.177;0.423;0.177;0.375;0.258	T|T	0.01617|0.01617	-1.1311|-1.1311	5|10	.|0.72032	.|D	.|0.01	-4.9028|-4.9028	8.8482|8.8482	0.35184|0.35184	0.0744:0.0:0.6572:0.2684|0.0744:0.0:0.6572:0.2684	.|.	.|137;173;197;173;197;197	.|B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.|.;.;.;.;P2RX5_HUMAN;.	L|C	144|197;173;197;197;173;137	.|ENSP00000415370:R197C;ENSP00000447545:R173C;ENSP00000448355:R197C;ENSP00000225328:R197C;ENSP00000342161:R173C;ENSP00000450006:R137C	.|ENSP00000225328:R197C	P|R	-|-	2|1	0|0	P2RX5|P2RX5	3540138|3540138	1.000000|1.000000	0.71417|0.71417	0.673000|0.673000	0.29887|0.29887	0.930000|0.930000	0.56654|0.56654	2.745000|2.745000	0.47459|0.47459	1.364000|1.364000	0.46038|0.46038	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.587	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		142	138	0	0	0	0.00361	0	142	138				
GSG2	83903	broad.mit.edu	37	17	3628116	3628116	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:3628116G>T	ENST00000325418.4	+	1	906	c.887G>T	c.(886-888)gGc>gTc	p.G296V	ITGAE_ENST00000571185.1_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	296					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										AGGGCCACAGGCCAGGACTCT	0.567																																							uc002fwp.2		NA																	0					0						c.(886-888)GGC>GTC		haspin							41.0	45.0	44.0					17																	3628116		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628116G>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.887G>T	17.37:g.3628116G>T	ENSP00000325290:p.Gly296Val					ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	p.G296V	NM_031965	NP_114171	Q8TF76	HASP_HUMAN			1	920	+			296					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.887G>T	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809553	0.50421	.	.	ENSG00000177602	ENST00000325418	T	0.07327	3.2	4.49	-6.96	0.01622	.	.	.	.	.	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	0.999999	P	0.44578	0.838	B	0.36134	0.218	T	0.33854	-0.9852	9	0.87932	D	0	.	11.0774	0.48040	0.1374:0.1101:0.7524:0.0	.	296	Q8TF76	HASP_HUMAN	V	296	ENSP00000325290:G296V	ENSP00000325290:G296V	G	+	2	0	GSG2	3574865	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.560000	0.02160	-1.081000	0.03105	-0.345000	0.07892	GGC		0.567	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		44	25	1	0	1.22674e-20	0.00874	1.83206e-20	44	25				
NLRP1	22861	broad.mit.edu	37	17	5418227	5418227	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:5418227G>T	ENST00000572272.1	-	17	4268	c.4269C>A	c.(4267-4269)ccC>ccA	p.P1423P	NLRP1_ENST00000577119.1_Silent_p.P1349P|NLRP1_ENST00000345221.3_Silent_p.P1379P|NLRP1_ENST00000269280.4_Silent_p.P1379P|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Silent_p.P1393P|RNU7-31P_ENST00000517262.1_RNA			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1423	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCATCTGGCTGGGCCTCGTGT	0.572																																							uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(4267-4269)CCC>CCA		NLR family, pyrin domain containing 1 isoform 1							72.0	76.0	75.0					17																	5418227		2108	4231	6339	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418227G>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4269C>A	17.37:g.5418227G>T						NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Silent_p.P1379P|NLRP1_uc002gcj.2_Silent_p.P1393P|NLRP1_uc002gcl.2_Silent_p.P1349P|NLRP1_uc002gch.3_Silent_p.P1379P	p.P1423P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			17	4824	-		Colorectal(1115;3.48e-05)	1423			CARD.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.4269C>A	CCDS42246.1																																																																																				0.572	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		20	33	1	0	8.34094e-07	0.008871	9.35694e-07	20	33				
WSCD1	23302	broad.mit.edu	37	17	5998421	5998421	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:5998421G>T	ENST00000574946.1	+	5	1117		c.e5-1		WSCD1_ENST00000539421.1_Splice_Site|WSCD1_ENST00000574232.1_Splice_Site|WSCD1_ENST00000317744.5_Splice_Site|WSCD1_ENST00000573634.1_Splice_Site			Q658N2	WSCD1_HUMAN	WSC domain containing 1							integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTTCCCCCAGGGCGGACCGC	0.557																																							uc010cli.2		NA																	0					0						c.e5-1		WSC domain containing 1							118.0	123.0	121.0					17																	5998421		2203	4300	6503	SO:0001630	splice_region_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:5998421G>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.728-1G>T	17.37:g.5998421G>T						WSCD1_uc002gcn.2_Splice_Site_p.R243_splice|WSCD1_uc002gco.2_Splice_Site_p.R243_splice|WSCD1_uc010clj.2_Splice_Site	p.R243_splice	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			5	1107	+								A8K0N8|D3DTM3|O60276|Q96G45	Splice_Site	SNP	ENST00000574946.1	37	c.728_splice	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848861	0.71603	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.073	0.89417	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WSCD1	5939145	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.739000	0.84976	2.873000	0.98535	0.561000	0.74099	.		0.557	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	Intron	46	129	1	0	1.67753e-36	0.00361	2.90451e-36	46	129				
FBXO39	162517	broad.mit.edu	37	17	6684114	6684114	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:6684114G>A	ENST00000321535.4	+	2	1057	c.927G>A	c.(925-927)agG>agA	p.R309R		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	309										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCCCGATCAGGAGCATCAGTC	0.527																																							uc010vtg.1		NA																	0				ovary(1)|skin(1)	2						c.(925-927)AGG>AGA		F-box protein 39							60.0	52.0	55.0					17																	6684114		2203	4300	6503	SO:0001819	synonymous_variant	162517							g.chr17:6684114G>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.927G>A	17.37:g.6684114G>A							p.R309R	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN			2	1047	+			309						Silent	SNP	ENST00000321535.4	37	c.927G>A	CCDS11082.1																																																																																				0.527	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		40	30	0	0	0	0.00623	0	40	30				
SPEM1	374768	broad.mit.edu	37	17	7323846	7323846	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7323846T>A	ENST00000323675.3	+	1	168	c.143T>A	c.(142-144)cTg>cAg	p.L48Q	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	48					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATAGTGACCCTGGTCAGGGTG	0.597																																							uc002ggv.2		NA																	0					0						c.(142-144)CTG>CAG		spermatid maturation 1							41.0	45.0	44.0					17																	7323846		1945	4134	6079	SO:0001630	splice_region_variant	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7323846T>A	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.144+1T>A	17.37:g.7323846T>A						FGF11_uc010vtw.1_Intron	p.L48Q	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN			1	168	+		Prostate(122;0.173)	48			Helical; (Potential).			Missense_Mutation	SNP	ENST00000323675.3	37	c.143T>A	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549980	0.65311	.	.	ENSG00000181323	ENST00000323675	T	0.48836	0.8	5.21	4.13	0.48395	.	0.198176	0.24649	N	0.036730	T	0.56001	0.1956	L	0.47716	1.5	0.34946	D	0.750758	D	0.76494	0.999	D	0.65874	0.939	T	0.65849	-0.6068	10	0.72032	D	0.01	-5.9092	7.64	0.28288	0.0:0.0976:0.0:0.9024	.	48	Q8N4L4	SPEM1_HUMAN	Q	48	ENSP00000315554:L48Q	ENSP00000315554:L48Q	L	+	2	0	SPEM1	7264570	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.960000	0.56752	0.813000	0.34350	0.402000	0.26972	CTG		0.597	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339	Missense_Mutation	21	55	0	0	0	0.008871	0	21	55				
POLR2A	5430	broad.mit.edu	37	17	7411605	7411605	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7411605G>T	ENST00000322644.6	+	20	3675	c.3276G>T	c.(3274-3276)gcG>gcT	p.A1092A		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1092					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTCTGGCTGCGCAGTCCCTTG	0.542																																							uc002ghf.3		NA																	0				pancreas(1)	1						c.(3274-3276)GCG>GCT		DNA-directed RNA polymerase II A							75.0	53.0	60.0					17																	7411605		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7411605G>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3276G>T	17.37:g.7411605G>T							p.A1092A	NM_000937	NP_000928	P24928	RPB1_HUMAN			20	3510	+		Prostate(122;0.173)	1092					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.3276G>T	CCDS32548.1																																																																																				0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		13	10	1	0	0.00010058	0.001368	0.000107352	13	10				
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATCTCGAAGCGCTCACGCCC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM012663	TP53	M	rs121912664	c.(1009-1011)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	45.0	49.0					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574017C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1010G>T	17.37:g.7574017C>A	ENSP00000269305:p.Arg337Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L	p.R337L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1204	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1010G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539589	0.45176	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95137	-3.62;-3.62	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.82323	2.585	0.42190	D	0.991726	D	0.65815	0.995	D	0.66716	0.946	D	0.95854	0.8877	10	0.66056	D	0.02	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	L	337;337;326	ENSP00000269305:R337L;ENSP00000391478:R337L	ENSP00000269305:R337L	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	8	1	0	6.97489e-18	0.004878	9.91141e-18	32	8				
DNAH2	146754	broad.mit.edu	37	17	7727220	7727220	+	Missense_Mutation	SNP	G	G	A	rs61739646	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7727220G>A	ENST00000572933.1	+	75	12858	c.11398G>A	c.(11398-11400)Gtg>Atg	p.V3800M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V3800M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3800					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCAGGACCGCGTGGCCTTCTG	0.582													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20927	0.001		0.0	False		,,,				2504	0.0						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(11398-11400)GTG>ATG		dynein heavy chain domain 3							121.0	94.0	103.0					17																	7727220		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727220G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11398G>A	17.37:g.7727220G>A	ENSP00000458355:p.Val3800Met					DNAH2_uc010cnm.1_Missense_Mutation_p.V738M	p.V3800M	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			74	11412	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3800					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11398G>A	CCDS32551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.48	3.834894	0.71373	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08720	3.06	4.96	4.96	0.65561	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.11750	0.0286	L	0.39020	1.185	0.80722	D	1	P;P	0.47484	0.794;0.896	B;P	0.47981	0.427;0.563	T	0.20338	-1.0278	10	0.22706	T	0.39	.	16.9608	0.86272	0.0:0.0:1.0:0.0	rs61739646	3761;3800	Q9P225-2;Q9P225	.;DYH2_HUMAN	M	3761;3800	ENSP00000373825:V3800M	ENSP00000353818:V3761M	V	+	1	0	DNAH2	7667945	1.000000	0.71417	0.366000	0.25914	0.384000	0.30261	6.502000	0.73695	2.309000	0.77851	0.609000	0.83330	GTG		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		98	10	0	0	0	0.00361	0	98	10				
GUCY2D	3000	broad.mit.edu	37	17	7910409	7910409	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:7910409C>T	ENST00000254854.4	+	5	1560	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	470					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TTCTTGGCTTCCTCCTGGTGG	0.572																																							uc002gjt.2		NA																	0				skin(1)	1						c.(1408-1410)TTC>TTT		guanylate cyclase 2D, membrane (retina-specific)							90.0	84.0	86.0					17																	7910409		2203	4300	6503	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7910409C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1410C>T	17.37:g.7910409C>T							p.F470F	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			5	1484	+		Prostate(122;0.157)	470			Helical; (Potential).		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1410C>T	CCDS11127.1																																																																																				0.572	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			28	62	0	0	0	0.008361	0	28	62				
ARHGEF15	22899	broad.mit.edu	37	17	8222142	8222142	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:8222142G>T	ENST00000361926.3	+	12	2057	c.1947G>T	c.(1945-1947)ggG>ggT	p.G649G	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Silent_p.G649G	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	649					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCGGAGGGGGGGCGTGCTCT	0.647																																							uc002glc.2		NA																	0				ovary(2)|skin(1)	3						c.(1945-1947)GGG>GGT		Rho guanine exchange factor 15							118.0	135.0	129.0					17																	8222142		2203	4299	6502	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222142G>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1947G>T	17.37:g.8222142G>T						ARHGEF15_uc002gld.2_Silent_p.G649G|ARHGEF15_uc010vuw.1_Silent_p.G538G	p.G649G	NM_173728	NP_776089	O94989	ARHGF_HUMAN			12	2068	+			649					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1947G>T	CCDS11139.1																																																																																				0.647	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		82	250	1	0	2.1672e-28	0.00361	3.56105e-28	82	250				
MYH10	4628	broad.mit.edu	37	17	8408032	8408032	+	Silent	SNP	C	C	T	rs575524243		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:8408032C>T	ENST00000269243.4	-	26	3624	c.3486G>A	c.(3484-3486)acG>acA	p.T1162T	MYH10_ENST00000360416.3_Silent_p.T1193T|MYH10_ENST00000396239.1_Silent_p.T1183T|MYH10_ENST00000379980.4_Silent_p.T1178T	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1162					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTGGGCTGCCGTGGTGTCCA	0.607																																							uc002gll.2		NA																	0				ovary(2)	2						c.(3484-3486)ACG>ACA		myosin, heavy polypeptide 10, non-muscle							120.0	106.0	111.0					17																	8408032		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8408032C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3486G>A	17.37:g.8408032C>T						MYH10_uc002glm.2_Silent_p.T1193T|MYH10_uc010cnx.2_Silent_p.T1171T	p.T1162T	NM_005964	NP_005955	P35580	MYH10_HUMAN			26	3582	-			1162			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.3486G>A	CCDS11144.1																																																																																				0.607	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			9	145	0	0	0	0.008291	0	9	145				
MYH13	8735	broad.mit.edu	37	17	10265475	10265475	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10265475G>T	ENST00000418404.3	-	4	628	c.465C>A	c.(463-465)atC>atA	p.I155I	MYH13_ENST00000252172.4_Silent_p.I155I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	155	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGATGGAGAAGATGTGGGGCG	0.488																																							uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(463-465)ATC>ATA		myosin, heavy polypeptide 13, skeletal muscle							107.0	119.0	115.0					17																	10265475		2203	4298	6501	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265475G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.465C>A	17.37:g.10265475G>T							p.I155I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			5	555	-			155			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.465C>A	CCDS45613.1																																																																																				0.488	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		101	78	1	0	2.91419e-48	0.00361	5.28709e-48	101	78				
MYH8	4626	broad.mit.edu	37	17	10303742	10303742	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10303742G>T	ENST00000403437.2	-	27	3794	c.3700C>A	c.(3700-3702)Ctc>Atc	p.L1234I	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1234					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTACTGCTGAGGTCATCAGTC	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3700-3702)CTC>ATC		myosin, heavy chain 8, skeletal muscle,							197.0	179.0	185.0					17																	10303742		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303742G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3700C>A	17.37:g.10303742G>T	ENSP00000384330:p.Leu1234Ile					uc002gml.1_Intron	p.L1234I	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3795	-			1234			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3700C>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302434	0.40694	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80033	-1.33	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.32918	U	0.005496	D	0.88537	0.6463	H	0.94306	3.52	0.41772	D	0.989772	P	0.42584	0.784	P	0.47470	0.548	D	0.91001	0.4842	10	0.87932	D	0	.	12.9565	0.58430	0.0833:0.0:0.9167:0.0	.	1234	P13535	MYH8_HUMAN	I	1234	ENSP00000384330:L1234I	ENSP00000252173:L1234I	L	-	1	0	MYH8	10244467	1.000000	0.71417	0.996000	0.52242	0.230000	0.25150	1.423000	0.34837	2.785000	0.95823	0.655000	0.94253	CTC		0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		51	140	1	0	5.39261e-20	0.00361	7.93707e-20	51	140				
MYH8	4626	broad.mit.edu	37	17	10314148	10314148	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10314148C>A	ENST00000403437.2	-	15	1627	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	511	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAATGAACGTCCACTCGATGC	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(1531-1533)TGG>TGT		myosin, heavy chain 8, skeletal muscle,							267.0	219.0	235.0					17																	10314148		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10314148C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1533G>T	17.37:g.10314148C>A	ENSP00000384330:p.Trp511Cys					uc002gml.1_Intron	p.W511C	NM_002472	NP_002463	P13535	MYH8_HUMAN			15	1628	-			511			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1533G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215675	0.79352	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.89810	-2.57	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.39544	U	0.001321	D	0.96719	0.8929	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98166	1.0449	10	0.87932	D	0	.	18.2401	0.89965	0.0:1.0:0.0:0.0	.	511	P13535	MYH8_HUMAN	C	511	ENSP00000384330:W511C	ENSP00000252173:W511C	W	-	3	0	MYH8	10254873	1.000000	0.71417	0.969000	0.41365	0.948000	0.59901	7.609000	0.82925	2.552000	0.86080	0.563000	0.77884	TGG		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		40	125	1	0	3.78316e-11	0.00623	4.7204e-11	40	125				
MYH8	4626	broad.mit.edu	37	17	10318833	10318833	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10318833C>A	ENST00000403437.2	-	7	698	c.604G>T	c.(604-606)Gca>Tca	p.A202S	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	202	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A202S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGTAACTGCAATTGTTGCA	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(604-606)GCA>TCA		myosin, heavy chain 8, skeletal muscle,							141.0	133.0	136.0					17																	10318833		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318833C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.604G>T	17.37:g.10318833C>A	ENSP00000384330:p.Ala202Ser					uc002gml.1_Intron	p.A202S	NM_002472	NP_002463	P13535	MYH8_HUMAN			7	699	-			202			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.604G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819527	0.71028	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86769	-2.17	4.44	4.44	0.53790	Myosin head, motor domain (2);	0.000000	0.41396	U	0.000888	D	0.91680	0.7370	L	0.43152	1.355	0.49213	D	0.999766	B	0.30937	0.301	P	0.57283	0.817	D	0.91812	0.5460	10	0.66056	D	0.02	.	17.2389	0.87007	0.0:1.0:0.0:0.0	.	202	P13535	MYH8_HUMAN	S	202	ENSP00000384330:A202S	ENSP00000252173:A202S	A	-	1	0	MYH8	10259558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.589000	0.61006	2.308000	0.77769	0.591000	0.81541	GCA		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		53	59	1	0	7.41606e-26	0.00361	1.18731e-25	53	59				
MYH1	4619	broad.mit.edu	37	17	10398511	10398511	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10398511C>T	ENST00000226207.5	-	36	5387	c.5293G>A	c.(5293-5295)Gat>Aat	p.D1765N	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1765					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCACTCACATCAGTGATGGCC	0.458																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5293-5295)GAT>AAT		myosin, heavy chain 1, skeletal muscle, adult							277.0	236.0	250.0					17																	10398511		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398511C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5293G>A	17.37:g.10398511C>T	ENSP00000226207:p.Asp1765Asn					uc002gml.1_Intron	p.D1765N	NM_005963	NP_005954	P12882	MYH1_HUMAN			36	5387	-			1765			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5293G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223094	0.95139	.	.	ENSG00000109061	ENST00000226207	D	0.81821	-1.54	5.12	5.12	0.69794	Myosin tail (1);	0.000000	0.44483	U	0.000447	D	0.93022	0.7779	H	0.95611	3.695	0.58432	D	0.999999	D	0.76494	0.999	D	0.76071	0.987	D	0.94925	0.8077	10	0.87932	D	0	.	18.9057	0.92460	0.0:1.0:0.0:0.0	.	1765	P12882	MYH1_HUMAN	N	1765	ENSP00000226207:D1765N	ENSP00000226207:D1765N	D	-	1	0	MYH1	10339236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.638000	0.83328	2.536000	0.85505	0.561000	0.74099	GAT		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		48	155	0	0	0	0.00361	0	48	155				
MYH1	4619	broad.mit.edu	37	17	10402067	10402067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10402067C>A	ENST00000226207.5	-	30	4151	c.4057G>T	c.(4057-4059)Gag>Tag	p.E1353*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1353					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGCTCCTCCTCATACTGT	0.552																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4057-4059)GAG>TAG		myosin, heavy chain 1, skeletal muscle, adult							135.0	118.0	124.0					17																	10402067		2203	4300	6503	SO:0001587	stop_gained	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402067C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4057G>T	17.37:g.10402067C>A	ENSP00000226207:p.Glu1353*					uc002gml.1_Intron	p.E1353*	NM_005963	NP_005954	P12882	MYH1_HUMAN			30	4151	-			1353			Potential.		Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	c.4057G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	44	10.591847	0.99433	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.41	5.41	0.78517	.	0.000000	0.43579	U	0.000546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5475	0.95305	0.0:1.0:0.0:0.0	.	.	.	.	X	1353	.	ENSP00000226207:E1353X	E	-	1	0	MYH1	10342792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.696000	0.92011	0.655000	0.94253	GAG		0.552	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		86	53	1	0	7.7321e-48	0.00361	1.39887e-47	86	53				
MYH1	4619	broad.mit.edu	37	17	10406204	10406204	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10406204C>A	ENST00000226207.5	-	24	3056	c.2962G>T	c.(2962-2964)Ggt>Tgt	p.G988C	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	988					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCCAGACCCGCCATCTCT	0.507																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2962-2964)GGT>TGT		myosin, heavy chain 1, skeletal muscle, adult							207.0	194.0	198.0					17																	10406204		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10406204C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2962G>T	17.37:g.10406204C>A	ENSP00000226207:p.Gly988Cys					uc002gml.1_Intron	p.G988C	NM_005963	NP_005954	P12882	MYH1_HUMAN			24	3056	-			988			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2962G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085056	0.55861	.	.	ENSG00000109061	ENST00000226207	D	0.82984	-1.67	5.24	5.24	0.73138	.	0.171410	0.27495	U	0.019111	T	0.75287	0.3829	N	0.21448	0.665	0.29852	N	0.828323	B	0.02656	0.0	B	0.04013	0.001	T	0.66551	-0.5895	10	0.35671	T	0.21	.	19.1915	0.93669	0.0:1.0:0.0:0.0	.	988	P12882	MYH1_HUMAN	C	988	ENSP00000226207:G988C	ENSP00000226207:G988C	G	-	1	0	MYH1	10346929	0.001000	0.12720	1.000000	0.80357	0.738000	0.42128	1.374000	0.34283	2.620000	0.88729	0.557000	0.71058	GGT		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		42	183	1	0	2.35958e-20	0.009718	3.49421e-20	42	183				
MYH1	4619	broad.mit.edu	37	17	10415180	10415180	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10415180G>T	ENST00000226207.5	-	14	1486	c.1392C>A	c.(1390-1392)gaC>gaA	p.D464E	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	464	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCCAGCAATGTCCAAGACCC	0.463																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1390-1392)GAC>GAA		myosin, heavy chain 1, skeletal muscle, adult							198.0	188.0	192.0					17																	10415180		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415180G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1392C>A	17.37:g.10415180G>T	ENSP00000226207:p.Asp464Glu					uc002gml.1_Intron	p.D464E	NM_005963	NP_005954	P12882	MYH1_HUMAN			14	1486	-			464			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1392C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291799	0.80914	.	.	ENSG00000109061	ENST00000226207	D	0.97256	-4.31	5.61	4.64	0.57946	Myosin head, motor domain (3);	0.000000	0.45606	U	0.000348	D	0.99245	0.9737	H	0.99746	4.745	0.48511	D	0.999667	D	0.89917	1.0	D	0.87578	0.998	D	0.98329	1.0532	10	0.87932	D	0	.	14.9353	0.70951	0.069:0.0:0.931:0.0	.	464	P12882	MYH1_HUMAN	E	464	ENSP00000226207:D464E	ENSP00000226207:D464E	D	-	3	2	MYH1	10355905	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.795000	0.47861	1.505000	0.48720	0.655000	0.94253	GAC		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		109	89	1	0	4.58075e-42	0.00361	8.15761e-42	109	89				
MYH2	4620	broad.mit.edu	37	17	10428226	10428226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10428226G>T	ENST00000245503.5	-	34	5203	c.4819C>A	c.(4819-4821)Ctg>Atg	p.L1607M	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.L1607M|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1607					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAGCATCCAGCGTGCTCTGC	0.458																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4819-4821)CTG>ATG		myosin heavy chain IIa							236.0	205.0	216.0					17																	10428226		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428226G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4819C>A	17.37:g.10428226G>T	ENSP00000245503:p.Leu1607Met					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L1607M|MYH2_uc010coj.2_Intron	p.L1607M	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			34	4947	-			1607			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4819C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986497	0.53934	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85556	-2.0;-2.0	5.55	3.5	0.40072	Myosin tail (1);	0.000000	0.31221	U	0.008032	D	0.94640	0.8272	H	0.97918	4.105	0.41652	D	0.989138	D	0.62365	0.991	D	0.74674	0.984	D	0.95688	0.8738	10	0.87932	D	0	.	11.7371	0.51771	0.0674:0.1232:0.8094:0.0	.	1607	Q9UKX2	MYH2_HUMAN	M	1607	ENSP00000245503:L1607M;ENSP00000380367:L1607M	ENSP00000245503:L1607M	L	-	1	2	MYH2	10368951	1.000000	0.71417	0.951000	0.38953	0.969000	0.65631	3.975000	0.56859	1.560000	0.49568	-0.282000	0.10007	CTG		0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		82	60	1	0	1.52223e-32	0.00361	2.58472e-32	82	60				
MYH2	4620	broad.mit.edu	37	17	10432523	10432523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:10432523G>A	ENST00000245503.5	-	26	3694	c.3310C>T	c.(3310-3312)Cag>Tag	p.Q1104*	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q1104*|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1104					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAAGTGCCTGTTCATCTTCA	0.373																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3310-3312)CAG>TAG		myosin heavy chain IIa							101.0	99.0	100.0					17																	10432523		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432523G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3310C>T	17.37:g.10432523G>A	ENSP00000245503:p.Gln1104*					uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.Q1104*|MYH2_uc010coj.2_Intron	p.Q1104*	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			26	3438	-			1104			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.3310C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	40	8.176082	0.98691	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.26	5.26	0.73747	.	0.000000	0.37906	U	0.001893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.0503	0.93041	0.0:0.0:1.0:0.0	.	.	.	.	X	1104	.	ENSP00000245503:Q1104X	Q	-	1	0	MYH2	10373248	1.000000	0.71417	0.995000	0.50966	0.086000	0.17979	9.263000	0.95617	2.742000	0.94016	0.591000	0.81541	CAG		0.373	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		12	46	0	0	0	0.001368	0	12	46				
DNAH9	1770	broad.mit.edu	37	17	11572494	11572494	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:11572494G>T	ENST00000262442.4	+	16	2913	c.2845G>T	c.(2845-2847)Gtt>Ttt	p.V949F	DNAH9_ENST00000454412.2_Missense_Mutation_p.V949F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	949	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGTGACATTGTTGAGGGTCT	0.498																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2845-2847)GTT>TTT		dynein, axonemal, heavy chain 9 isoform 2							156.0	150.0	152.0					17																	11572494		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572494G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2845G>T	17.37:g.11572494G>T	ENSP00000262442:p.Val949Phe					DNAH9_uc010coo.2_Missense_Mutation_p.V243F	p.V949F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2913	+		Breast(5;0.0122)|all_epithelial(5;0.131)	949			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2845G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051547	0.19827	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.28895	1.63;1.59	5.6	1.27	0.21489	.	0.245896	0.33650	N	0.004682	T	0.31104	0.0786	M	0.80982	2.52	0.48901	D	0.999721	B	0.13145	0.007	B	0.19946	0.027	T	0.09684	-1.0663	10	0.46703	T	0.11	.	5.1953	0.15233	0.2782:0.0:0.5886:0.1333	.	949	Q9NYC9	DYH9_HUMAN	F	949	ENSP00000262442:V949F;ENSP00000414874:V949F	ENSP00000262442:V949F	V	+	1	0	DNAH9	11513219	0.203000	0.23435	0.002000	0.10522	0.529000	0.34654	0.577000	0.23758	0.284000	0.22305	0.655000	0.94253	GTT		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		83	25	1	0	9.5978e-63	0.00361	1.78311e-62	83	25				
NCOR1	9611	broad.mit.edu	37	17	15971414	15971414	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:15971414G>C	ENST00000268712.3	-	32	4792	c.4535C>G	c.(4534-4536)tCt>tGt	p.S1512C	NCOR1_ENST00000395851.1_Missense_Mutation_p.S1528C|NCOR1_ENST00000395857.3_Missense_Mutation_p.S96C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1512	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGATTGGTAGACTTGTTAGA	0.438																																							uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(4534-4536)TCT>TGT		nuclear receptor co-repressor 1							45.0	43.0	43.0					17																	15971414		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971414G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4535C>G	17.37:g.15971414G>C	ENSP00000268712:p.Ser1512Cys					NCOR1_uc002gpn.2_Missense_Mutation_p.S1528C|NCOR1_uc002gpm.2_Missense_Mutation_p.S33C|NCOR1_uc010vwb.1_Missense_Mutation_p.S96C|NCOR1_uc010coy.2_Missense_Mutation_p.S420C|NCOR1_uc010vwc.1_Missense_Mutation_p.S323C	p.S1512C	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4775	-			1512			Interaction with ETO.|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.4535C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613016	0.87258	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.54279	0.58;0.58;0.58	5.76	5.76	0.90799	.	0.149124	0.64402	D	0.000006	T	0.57417	0.2052	N	0.22421	0.69	0.54753	D	0.999989	D;P;P;P;D	0.54207	0.965;0.943;0.856;0.911;0.965	P;P;P;P;P	0.57101	0.798;0.56;0.498;0.694;0.813	T	0.60845	-0.7182	10	0.72032	D	0.01	-7.2112	18.9612	0.92678	0.0:0.0:1.0:0.0	.	323;1417;1512;1528;33	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	C	1512;1528;1417;96	ENSP00000268712:S1512C;ENSP00000379192:S1528C;ENSP00000379198:S96C	ENSP00000268712:S1512C	S	-	2	0	NCOR1	15912139	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.896000	0.92521	2.715000	0.92844	0.563000	0.77884	TCT		0.438	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		10	10	0	0	0	0.006214	0	10	10				
ZNF287	57336	broad.mit.edu	37	17	16456737	16456737	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:16456737C>A	ENST00000395824.1	-	6	1336	c.719G>T	c.(718-720)tGg>tTg	p.W240L	ZNF287_ENST00000395825.3_Missense_Mutation_p.W240L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	233					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTAGTTTCCCATTCTGaaat	0.318																																							uc002gqi.2		NA																	0					0						c.(718-720)TGG>TTG		zinc finger protein 287							51.0	53.0	52.0					17																	16456737		2078	4219	6297	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456737C>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.719G>T	17.37:g.16456737C>A	ENSP00000379168:p.Trp240Leu						p.W240L	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1172	-			233					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.719G>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	2.846	-0.239394	0.05944	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.05513	3.43;3.43	4.35	4.35	0.52113	.	0.301150	0.24604	N	0.037119	T	0.05273	0.0140	N	0.24115	0.695	0.29617	N	0.846522	B	0.09022	0.002	B	0.12156	0.007	T	0.19679	-1.0298	10	0.16420	T	0.52	.	15.1816	0.72962	0.0:1.0:0.0:0.0	.	233	Q9HBT7	ZN287_HUMAN	L	240	ENSP00000379169:W240L;ENSP00000379168:W240L	ENSP00000379168:W240L	W	-	2	0	ZNF287	16397462	0.012000	0.17670	0.998000	0.56505	0.331000	0.28603	1.132000	0.31418	2.714000	0.92807	0.585000	0.79938	TGG		0.318	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			30	7	1	0	3.65163e-15	0.00632	4.918e-15	30	7				
KRT18P55	284085	broad.mit.edu	37	17	26603976	26603976	+	RNA	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:26603976T>C	ENST00000577198.1	-	0	985				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		TTCTCGATGGTCTTGAAGTCA	0.522																																							uc002has.3		NA																	0					0						c.(499-501)ACC>GCC		SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18;							57.0	61.0	60.0					17																	26603976		2152	4275	6427			284085							g.chr17:26603976T>C			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26603976T>C							p.T167A	NM_173624	NP_775895				UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	595	-	all_lung(13;0.000238)|Lung NSC(42;0.000789)								Missense_Mutation	SNP	ENST00000577198.1	37	c.499A>G																																																																																					0.522	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		57	35	0	0	0	0.00361	0	57	35				
PIGS	94005	broad.mit.edu	37	17	26883203	26883204	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:26883203_26883204CC>AG	ENST00000308360.7	-	10	1536_1537	c.1161_1162GG>CT	c.(1159-1164)gaGGtg>gaCTtg	p.387_388EV>DL	PIGS_ENST00000395346.2_Missense_Mutation_p.379_380EV>DL|PIGS_ENST00000543734.1_Missense_Mutation_p.326_327EV>DL|PIGS_ENST00000465444.1_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	387					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCCAGGAACACCTCCATCACTC	0.5																																							uc002hbo.2		NA																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(1159-1164)GAGGTG>GACTTG		phosphatidylinositol glycan anchor biosynthesis,																																				SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26883203_26883204CC>AG		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1161_1162delinsAG	17.37:g.26883203_26883204delinsAG	ENSP00000309430:p.E387_V388delinsDL					PIGS_uc002hbn.2_Missense_Mutation_p.379_380EV>DL|PIGS_uc010wap.1_Missense_Mutation_p.326_327EV>DL	p.387_388EV>DL	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			10	1534_1535	-	Lung NSC(42;0.00431)		387_388			Lumenal (Potential).		Q6UVX6	Missense_Mutation	DNP	ENST00000308360.7	37	c.1161_1162GG>CT	CCDS11235.1																																																																																				0.500	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		48	47	0	0	0	0.004672	0	48	47				
TAOK1	57551	broad.mit.edu	37	17	27849415	27849415	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:27849415G>C	ENST00000261716.3	+	17	2545	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	676					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GATGCGCTGTGAGTTGATCAG	0.453																																							uc002hdz.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2026-2028)GAG>CAG		TAO kinase 1							114.0	102.0	106.0					17																	27849415		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849415G>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2026G>C	17.37:g.27849415G>C	ENSP00000261716:p.Glu676Gln					TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Missense_Mutation_p.E676Q	p.E676Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2220	+			676					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.2026G>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095751	0.94197	.	.	ENSG00000160551	ENST00000261716	T	0.48836	0.8	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.047671	0.85682	D	0.000000	T	0.66416	0.2787	M	0.64170	1.965	0.80722	D	1	D	0.63046	0.992	D	0.63113	0.911	T	0.64002	-0.6509	10	0.49607	T	0.09	.	20.1907	0.98230	0.0:0.0:1.0:0.0	.	676	Q7L7X3	TAOK1_HUMAN	Q	676	ENSP00000261716:E676Q	ENSP00000261716:E676Q	E	+	1	0	TAOK1	24873541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.863000	0.99569	2.780000	0.95670	0.579000	0.79373	GAG		0.453	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		21	54	0	0	0	0.010504	0	21	54				
SLC6A4	6532	broad.mit.edu	37	17	28530283	28530283	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:28530283G>A	ENST00000401766.2	-	13	2237	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	RP11-354P11.4_ENST00000581633.1_RNA|SLC6A4_ENST00000261707.3_Silent_p.I575I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	575					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AACCCAAGATGATACTCCAGT	0.388																																							uc002hey.3		NA																	0				skin(3)|ovary(1)	4						c.(1723-1725)ATC>ATT		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						181.0	182.0	182.0					17																	28530283		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28530283G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1725C>T	17.37:g.28530283G>A						SLC6A4_uc010csg.2_RNA	p.I575I	NM_001045	NP_001036	P31645	SC6A4_HUMAN			14	2269	-			575					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.1725C>T	CCDS11256.1																																																																																				0.388	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		69	44	0	0	0	0.00361	0	69	44				
PSMD11	5717	broad.mit.edu	37	17	30774031	30774031	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:30774031G>A	ENST00000261712.3	+	2	423	c.160G>A	c.(160-162)Gga>Aga	p.G54R	PSMD11_ENST00000457654.2_Missense_Mutation_p.G54R	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	54					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CCTGGAACTGGGATCTCTCCT	0.453																																					Ovarian(130;1038 1716 9294 11987 19279)	Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NA																	0				ovary(1)	1						c.(160-162)GGA>AGA		proteasome 26S non-ATPase subunit 11							117.0	112.0	114.0					17																	30774031		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30774031G>A	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.160G>A	17.37:g.30774031G>A	ENSP00000261712:p.Gly54Arg					PSMD11_uc010wbz.1_Missense_Mutation_p.G54R|PSMD11_uc002hhm.2_Missense_Mutation_p.G54R	p.G54R	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		2	200	+		Breast(31;0.159)|Ovarian(249;0.182)	54					A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.160G>A	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400129	0.96030	.	.	ENSG00000108671	ENST00000261712	T	0.44482	0.92	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.80979	-0.1140	10	0.87932	D	0	-20.0353	17.2801	0.87126	0.0:0.0:1.0:0.0	.	54;54	B4DTS5;O00231	.;PSD11_HUMAN	R	54	ENSP00000261712:G54R	ENSP00000261712:G54R	G	+	1	0	PSMD11	27798144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.701000	0.98710	2.665000	0.90641	0.655000	0.94253	GGA		0.453	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		23	53	0	0	0	0.004656	0	23	53				
CCL2	6347	broad.mit.edu	37	17	32583819	32583819	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:32583819C>A	ENST00000225831.4	+	3	338	c.273C>A	c.(271-273)gaC>gaA	p.D91E	AC005549.3_ENST00000601918.1_5'Flank|CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	91					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	ACCACCTGGACAAGCAAACCC	0.507																																							uc002hhy.2		NA																	0				pancreas(1)	1						c.(271-273)GAC>GAA		small inducible cytokine A2 precursor	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)						110.0	87.0	95.0					17																	32583819		2203	4300	6503	SO:0001583	missense	6347				angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	g.chr17:32583819C>A	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"""Chemokine ligands"", ""Endogenous ligands"""	10618	protein-coding gene	gene with protein product	"""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2"""	158105	"""small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"""	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.273C>A	17.37:g.32583819C>A	ENSP00000225831:p.Asp91Glu						p.D91E	NM_002982	NP_002973	P13500	CCL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	3	346	+	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	91	D->L: 90% reduction in activity.|Missing: 83% reduction in activity.				B2R4V3|Q9UDF3	Missense_Mutation	SNP	ENST00000225831.4	37	c.273C>A	CCDS11277.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084512	0.36758	.	.	ENSG00000108691	ENST00000225831	T	0.04049	3.72	4.97	2.93	0.34026	Chemokine interleukin-8-like domain (1);	0.124124	0.36374	N	0.002628	T	0.11707	0.0285	.	.	.	0.32150	N	0.584389	D	0.62365	0.991	D	0.64595	0.927	T	0.08269	-1.0730	9	0.25106	T	0.35	.	8.0169	0.30387	0.0:0.8108:0.0:0.1892	.	91	P13500	CCL2_HUMAN	E	91	ENSP00000225831:D91E	ENSP00000225831:D91E	D	+	3	2	CCL2	29607932	0.990000	0.36364	0.206000	0.23566	0.151000	0.21798	0.384000	0.20668	0.770000	0.33336	0.491000	0.48974	GAC		0.507	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982		14	46	1	0	2.31682e-05	0.003163	2.52152e-05	14	46				
TMEM132E	124842	broad.mit.edu	37	17	32959844	32959844	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:32959844C>A	ENST00000321639.5	+	7	1662	c.1334C>A	c.(1333-1335)cCc>cAc	p.P445H		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	445						integral component of membrane (GO:0016021)		p.P445H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCTGGGTCCCCAAGCTGCCC	0.597																																							uc002hif.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(1333-1335)CCC>CAC		transmembrane protein 132E precursor							181.0	162.0	168.0					17																	32959844		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32959844C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1334C>A	17.37:g.32959844C>A	ENSP00000316532:p.Pro445His						p.P445H	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	7	1662	+			445			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1334C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631507	0.87660	.	.	ENSG00000181291	ENST00000321639	T	0.30182	1.54	4.71	4.71	0.59529	.	0.113166	0.64402	D	0.000007	T	0.61825	0.2378	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70008	-0.4990	10	0.87932	D	0	-30.1987	16.8574	0.86009	0.0:1.0:0.0:0.0	.	445	Q6IEE7	T132E_HUMAN	H	445	ENSP00000316532:P445H	ENSP00000316532:P445H	P	+	2	0	TMEM132E	29983957	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.651000	0.83577	2.446000	0.82766	0.551000	0.68910	CCC		0.597	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		89	75	1	0	1.82171e-49	0.00361	3.31751e-49	89	75				
RFFL	117584	broad.mit.edu	37	17	33348594	33348594	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33348594C>G	ENST00000315249.7	-	3	609	c.387G>C	c.(385-387)ctG>ctC	p.L129L	RFFL_ENST00000394597.2_Silent_p.L129L|RFFL_ENST00000584655.1_Silent_p.L129L|RFFL_ENST00000413582.2_Silent_p.L129L|RFFL_ENST00000447669.2_Silent_p.L129L|RFFL_ENST00000268850.7_Silent_p.L129L|RFFL_ENST00000378516.2_Silent_p.L129L|RFFL_ENST00000415395.2_Silent_p.L129L|RAD51L3-RFFL_ENST00000593039.1_Intron					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAAGAGCACCAGCTCTTCTT	0.552																																							uc002hin.1		NA																	0					0						c.(385-387)CTG>CTC		rififylin							82.0	74.0	77.0					17																	33348594		2203	4300	6503	SO:0001819	synonymous_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348594C>G	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.387G>C	17.37:g.33348594C>G						RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Silent_p.L129L|RFFL_uc010cti.1_Silent_p.L135L|RFFL_uc002hip.1_Silent_p.L129L|RFFL_uc002hio.1_Silent_p.L129L	p.L129L	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	560	-		Ovarian(249;0.17)	129						Silent	SNP	ENST00000315249.7	37	c.387G>C	CCDS11286.1																																																																																				0.552	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		17	30	0	0	0	0.006122	0	17	30				
SLC35G3	146861	broad.mit.edu	37	17	33520510	33520510	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33520510C>A	ENST00000297307.5	-	1	902	c.817G>T	c.(817-819)Gcg>Tcg	p.A273S	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	273	EamA 2.					integral component of membrane (GO:0016021)											TTGGTGACCGCATAGCCCACA	0.592																																							uc002hjd.2		NA																	0					0						c.(817-819)GCG>TCG		acyl-malonyl condensing enzyme 1							151.0	137.0	142.0					17																	33520510		2203	4299	6502	SO:0001583	missense	146861					integral to membrane		g.chr17:33520510C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.817G>T	17.37:g.33520510C>A	ENSP00000297307:p.Ala273Ser						p.A273S	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	903	-			273			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.817G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870470	0.33069	.	.	ENSG00000164729	ENST00000297307	T	0.76060	-0.99	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.61974	0.2390	L	0.34521	1.04	0.43994	D	0.996699	P	0.38745	0.645	B	0.43018	0.405	T	0.52132	-0.8616	9	0.37606	T	0.19	-6.6496	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	273	Q8N808	S35G3_HUMAN	S	273	ENSP00000297307:A273S	ENSP00000297307:A273S	A	-	1	0	SLC35G3	30544623	1.000000	0.71417	0.139000	0.22197	0.140000	0.21249	3.580000	0.53907	0.064000	0.16427	0.064000	0.15345	GCG		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		126	85	1	0	5.13333e-58	0.00361	9.48219e-58	126	85				
SLFN13	146857	broad.mit.edu	37	17	33771790	33771790	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33771790C>A	ENST00000285013.6	-	3	1185	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.G304W|SLFN13_ENST00000526861.1_Missense_Mutation_p.G304W|SLFN13_ENST00000533791.1_Missense_Mutation_p.G304W|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	304						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACTCTTTCCCACAAAACACT	0.418																																							uc002hjk.1		NA																	0				ovary(1)|breast(1)	2						c.(910-912)GGG>TGG		schlafen family member 13							198.0	184.0	189.0					17																	33771790		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33771790C>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.910G>T	17.37:g.33771790C>A	ENSP00000285013:p.Gly304Trp					SLFN13_uc010wch.1_Missense_Mutation_p.G304W|SLFN13_uc002hjl.2_Missense_Mutation_p.G304W|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_Intron	p.G304W	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	1	1240	-			304					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.910G>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	13.64	2.296139	0.40594	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.59638	0.25;0.25;0.25	3.39	-3.55	0.04639	.	3.472590	0.00918	N	0.002555	T	0.63200	0.2491	L	0.50333	1.59	0.09310	N	1	D	0.58620	0.983	P	0.54372	0.75	T	0.60939	-0.7163	10	0.87932	D	0	.	8.8664	0.35289	0.0:0.2749:0.0:0.7251	.	304	Q68D06	SLN13_HUMAN	W	304	ENSP00000285013:G304W;ENSP00000434439:G304W;ENSP00000444016:G304W	ENSP00000285013:G304W	G	-	1	0	SLFN13	30795903	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.314000	0.01125	-0.683000	0.05190	0.514000	0.50259	GGG		0.418	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		53	54	1	0	1.86277e-20	0.00361	2.77336e-20	53	54				
PEX12	5193	broad.mit.edu	37	17	33903138	33903138	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:33903138G>C	ENST00000225873.4	-	3	1350	c.743C>G	c.(742-744)tCt>tGt	p.S248C	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	248					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGCCAGTAGACAGGGATAA	0.453																																							uc002hjp.2		NA																	0					0						c.(742-744)TCT>TGT		peroxisomal biogenesis factor 12							105.0	94.0	98.0					17																	33903138		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33903138G>C	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.743C>G	17.37:g.33903138G>C	ENSP00000225873:p.Ser248Cys						p.S248C	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1359	-			248			Helical; (Potential).		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.743C>G	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467566	0.84533	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.83992	-1.79	5.04	5.04	0.67666	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90846	0.4727	10	0.59425	D	0.04	-16.6536	17.5698	0.87932	0.0:0.0:1.0:0.0	.	248	O00623	PEX12_HUMAN	C	248	ENSP00000225873:S248C	ENSP00000225873:S248C	S	-	2	0	PEX12	30927251	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.022000	0.93678	2.614000	0.88457	0.655000	0.94253	TCT		0.453	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		36	31	0	0	0	0.004878	0	36	31				
GAS2L2	246176	broad.mit.edu	37	17	34077228	34077228	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:34077228C>G	ENST00000254466.6	-	2	522	c.495G>C	c.(493-495)gcG>gcC	p.A165A	GAS2L2_ENST00000587565.1_Silent_p.A165A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	165					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGAGTGTGGGCGCCGCAACAC	0.706																																							uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(493-495)GCG>GCC		growth arrest-specific 2 like 2							104.0	118.0	113.0					17																	34077228		2202	4299	6501	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077228C>G	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.495G>C	17.37:g.34077228C>G							p.A165A	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	523	-		Ovarian(249;0.17)	165					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.495G>C	CCDS11298.1																																																																																				0.706	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		73	200	0	0	0	0.00361	0	73	200				
CCL23	6368	broad.mit.edu	37	17	34344875	34344875	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:34344875C>A	ENST00000591423.1	-	1	124	c.60G>T	c.(58-60)caG>caT	p.Q20H	CCL23_ENST00000293280.2_Missense_Mutation_p.Q20H	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	20				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1). {ECO:0000305}.	cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACCCGGGCCTGGGATCCAA	0.587																																							uc002hkt.1		NA																	0					0						c.(58-60)CAG>CAT		small inducible cytokine A23 isoform CKbeta8	Treprostinil(DB00374)						72.0	63.0	66.0					17																	34344875		2203	4300	6503	SO:0001583	missense	6368				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34344875C>A	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.60G>T	17.37:g.34344875C>A	ENSP00000465954:p.Gln20His					CCL23_uc002hks.1_Missense_Mutation_p.Q20H	p.Q20H	NM_145898	NP_665905	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	131	-		Ovarian(249;0.17)	20	MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).				B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	c.60G>T	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915387	0.33815	.	.	ENSG00000167236	ENST00000293280	T	0.05025	3.51	4.08	2.04	0.26737	.	4.507970	0.00589	N	0.000347	T	0.09202	0.0227	L	0.47716	1.5	0.09310	N	1	B;B	0.19073	0.033;0.033	B;B	0.24701	0.016;0.055	T	0.35375	-0.9791	10	0.54805	T	0.06	.	5.6653	0.17693	0.0:0.6901:0.1999:0.11	.	20;20	P55773;P55773-2	CCL23_HUMAN;.	H	20	ENSP00000293280:Q20H	ENSP00000293280:Q20H	Q	-	3	2	CCL23	31368988	0.004000	0.15560	0.064000	0.19789	0.854000	0.48673	0.584000	0.23864	0.483000	0.27608	0.655000	0.94253	CAG		0.587	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		16	22	1	0	1.02788e-11	0.00499	1.29422e-11	16	22				
STAC2	342667	broad.mit.edu	37	17	37371051	37371051	+	Missense_Mutation	SNP	C	C	A	rs369028662		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:37371051C>A	ENST00000333461.5	-	7	1205	c.836G>T	c.(835-837)gGa>gTa	p.G279V		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	279					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CACCTGCTGTCCAGGACTCTT	0.582																																							uc002hrs.2		NA																	0				pancreas(1)	1						c.(835-837)GGA>GTA		SH3 and cysteine rich domain 2			VAL/GLY	0,4406		0,0,2203	76.0	64.0	69.0		836	3.2	1.0	17		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAC2	NM_198993.3	109	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	279/412	37371051	1,13005	2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371051C>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.836G>T	17.37:g.37371051C>A	ENSP00000327509:p.Gly279Val					STAC2_uc010cvt.2_Missense_Mutation_p.G137V	p.G279V	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN			7	1055	-			279					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.836G>T	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	12.32	1.901497	0.33535	0.0	1.16E-4	ENSG00000141750	ENST00000333461	T	0.80824	-1.42	4.22	3.22	0.36961	Src homology-3 domain (1);	1.042900	0.07576	N	0.919419	T	0.65533	0.2700	N	0.14661	0.345	0.50039	D	0.999848	B	0.31680	0.335	B	0.30495	0.116	T	0.59166	-0.7505	10	0.46703	T	0.11	-0.7404	5.8193	0.18518	0.0:0.6938:0.2004:0.1058	.	279	Q6ZMT1	STAC2_HUMAN	V	279	ENSP00000327509:G279V	ENSP00000327509:G279V	G	-	2	0	STAC2	34624577	0.984000	0.35163	1.000000	0.80357	0.952000	0.60782	1.044000	0.30329	1.088000	0.41272	0.556000	0.70494	GGA		0.582	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		31	8	1	0	1.80694e-10	0.009535	2.21459e-10	31	8				
MED24	9862	broad.mit.edu	37	17	38209742	38209742	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:38209742C>A	ENST00000394128.2	-	2	191	c.110G>T	c.(109-111)tGg>tTg	p.W37L	MED24_ENST00000394127.2_Missense_Mutation_p.W37L|MED24_ENST00000501516.3_Missense_Mutation_p.W37L|MED24_ENST00000394126.1_Missense_Mutation_p.W62L|MED24_ENST00000356271.3_Missense_Mutation_p.W37L|MED24_ENST00000479829.1_5'UTR	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	37					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.W37L(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GAGAATATCCCAGGTGGCTCC	0.463																																							uc002htt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(109-111)TGG>TTG		mediator complex subunit 24 isoform 1							234.0	247.0	242.0					17																	38209742		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38209742C>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.110G>T	17.37:g.38209742C>A	ENSP00000377686:p.Trp37Leu					MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.W62L|MED24_uc002htu.2_Missense_Mutation_p.W37L|MED24_uc010cwn.2_Missense_Mutation_p.W37L|MED24_uc010weu.1_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.W62L|MED24_uc010wfc.1_5'Flank	p.W37L	NM_014815	NP_055630	O75448	MED24_HUMAN			2	423	-	Colorectal(19;0.000442)		37					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.110G>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246396	0.59103	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000537674;ENST00000535508;ENST00000501516;ENST00000428757	T;T;T	0.48522	0.81;0.81;0.81	5.88	5.88	0.94601	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.45531	0.681;0.573;0.626;0.86	B;B;B;P	0.47075	0.433;0.23;0.34;0.536	T	0.39272	-0.9622	10	0.23891	T	0.37	-9.7963	19.823	0.96605	0.0:1.0:0.0:0.0	.	37;37;37;37	B9TX65;O75448-2;O75448;F5H0K1	.;.;MED24_HUMAN;.	L	37;37;37;37;37;11;11;11;11;37	ENSP00000348610:W37L;ENSP00000377686:W37L;ENSP00000377685:W37L	ENSP00000348610:W37L	W	-	2	0	MED24	35463268	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.710000	0.84655	2.778000	0.95560	0.655000	0.94253	TGG		0.463	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		209	38	1	0	7.15034e-89	0.00361	1.34915e-88	209	38				
KRT33A	3883	broad.mit.edu	37	17	39506848	39506848	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39506848C>G	ENST00000007735.3	-	1	216	c.172G>C	c.(172-174)Gag>Cag	p.E58Q		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	58	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGCATGGTCTCCTTCTCACTG	0.632																																							uc002hwk.1		NA																	0					0						c.(172-174)GAG>CAG		keratin 33A							104.0	106.0	106.0					17																	39506848		2202	4300	6502	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506848C>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.172G>C	17.37:g.39506848C>G	ENSP00000007735:p.Glu58Gln						p.E58Q	NM_004138	NP_004129	O76009	KT33A_HUMAN			1	209	-		Breast(137;0.000496)	58			Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.172G>C	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899883	0.72754	.	.	ENSG00000006059	ENST00000007735	D	0.90133	-2.62	5.22	5.22	0.72569	Filament (1);	0.000000	0.64402	D	0.000003	D	0.95576	0.8562	M	0.82923	2.615	0.30653	N	0.755264	D	0.89917	1.0	D	0.79784	0.993	D	0.93209	0.6598	10	0.59425	D	0.04	.	18.3111	0.90200	0.0:1.0:0.0:0.0	.	58	O76009	KT33A_HUMAN	Q	58	ENSP00000007735:E58Q	ENSP00000007735:E58Q	E	-	1	0	KRT33A	36760374	0.000000	0.05858	1.000000	0.80357	0.874000	0.50279	0.000000	0.12993	2.878000	0.98634	0.650000	0.86243	GAG		0.632	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		110	24	0	0	0	0.00361	0	110	24				
KRT34	3885	broad.mit.edu	37	17	39538006	39538006	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39538006G>C	ENST00000394001.1	-	2	546	c.516C>G	c.(514-516)aaC>aaG	p.N172K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	172	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CATTGTCAATGTTCACCACCA	0.448																																							uc002hwm.2		NA																	0				central_nervous_system(1)	1						c.(514-516)AAC>AAG		keratin 34							85.0	81.0	82.0					17																	39538006		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538006G>C	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.516C>G	17.37:g.39538006G>C	ENSP00000377570:p.Asn172Lys						p.N172K	NM_021013	NP_066293	O76011	KRT34_HUMAN			2	528	-		Breast(137;0.000496)	172			Rod.|Coil 1B.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.516C>G	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	3.784	-0.045028	0.07452	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.55	2.28	0.28536	Filament (1);	0.464223	0.20292	N	0.095207	T	0.23249	0.0562	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.31447	-0.9943	9	0.72032	D	0.01	.	11.7501	0.51843	0.0:0.5933:0.3379:0.0688	.	172	O76011	KRT34_HUMAN	K	130;172	.	ENSP00000251648:N172K	N	-	3	2	KRT34	36791532	0.000000	0.05858	0.818000	0.32626	0.022000	0.10575	-1.737000	0.01843	1.344000	0.45657	-0.153000	0.13522	AAC		0.448	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		62	12	0	0	0	0.00361	0	62	12				
HAP1	9001	broad.mit.edu	37	17	39883375	39883375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:39883375C>A	ENST00000310778.5	-	10	1462	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	HAP1_ENST00000393939.2_Nonsense_Mutation_p.E408*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.E416*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.E433*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	485	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCCAGCGTCTCCTGGAAACCA	0.572																																							uc002hxm.1		NA																	0				ovary(2)	2						c.(1453-1455)GAG>TAG		huntingtin-associated protein 1 isoform 2							31.0	34.0	33.0					17																	39883375		2203	4300	6503	SO:0001587	stop_gained	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39883375C>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1453G>T	17.37:g.39883375C>A	ENSP00000309392:p.Glu485*					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.E433*|HAP1_uc002hxo.1_Nonsense_Mutation_p.E416*|HAP1_uc002hxp.1_Nonsense_Mutation_p.E408*	p.E485*	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1465	-		Breast(137;0.000162)	485			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Nonsense_Mutation	SNP	ENST00000310778.5	37	c.1453G>T		.	.	.	.	.	.	.	.	.	.	C	16.27	3.076409	0.55753	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	.	.	.	3.61	0.237	0.15475	.	0.440036	0.16825	N	0.197992	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.5393	11.7124	0.51633	0.0:0.4718:0.5282:0.0	.	.	.	.	X	408;485;433;416	.	ENSP00000309392:E485X	E	-	1	0	HAP1	37136901	0.546000	0.26457	0.011000	0.14972	0.043000	0.13939	0.984000	0.29565	-0.013000	0.14199	-1.303000	0.01326	GAG		0.572	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		15	4	1	0	6.81908e-15	0.00245	9.12671e-15	15	4				
SLC4A1	6521	broad.mit.edu	37	17	42332001	42332001	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:42332001C>G	ENST00000262418.6	-	16	2075	c.1920G>C	c.(1918-1920)gtG>gtC	p.V640V		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	640	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGAGTTGGACACCTTGAAGC	0.617																																							uc002igf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1918-1920)GTG>GTC		solute carrier family 4, anion exchanger, member							56.0	44.0	48.0					17																	42332001		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42332001C>G		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1920G>C	17.37:g.42332001C>G							p.V640V	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	16	2069	-		Breast(137;0.014)|Prostate(33;0.0181)	640			Extracellular (Potential).|Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1920G>C	CCDS11481.1																																																																																				0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		22	2	0	0	0	0.010504	0	22	2				
SLC4A1	6521	broad.mit.edu	37	17	42333059	42333059	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:42333059G>T	ENST00000262418.6	-	14	1937	c.1782C>A	c.(1780-1782)agC>agA	p.S594R	AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	594	Involved in anion transport.|Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAAATAGGAGCTGTTCTTGA	0.592																																							uc002igf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1780-1782)AGC>AGA		solute carrier family 4, anion exchanger, member							122.0	107.0	112.0					17																	42333059		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42333059G>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1782C>A	17.37:g.42333059G>T	ENSP00000262418:p.Ser594Arg						p.S594R	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	14	1931	-		Breast(137;0.014)|Prostate(33;0.0181)	594			Involved in anion transport.|Cytoplasmic (Potential).|Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1782C>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.994311	0.74703	.	.	ENSG00000004939	ENST00000262418	D	0.81499	-1.5	5.58	5.58	0.84498	Bicarbonate transporter, C-terminal (1);	0.049806	0.85682	D	0.000000	D	0.91040	0.7181	M	0.89478	3.035	0.58432	D	0.999991	D	0.55605	0.972	D	0.62955	0.909	D	0.92252	0.5809	10	0.87932	D	0	.	19.2501	0.93921	0.0:0.0:1.0:0.0	.	594	P02730	B3AT_HUMAN	R	594	ENSP00000262418:S594R	ENSP00000262418:S594R	S	-	3	2	SLC4A1	39688585	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.215000	0.51169	2.649000	0.89929	0.650000	0.86243	AGC		0.592	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		50	9	1	0	2.43468e-25	0.00361	3.87545e-25	50	9				
MAPT	4137	broad.mit.edu	37	17	44060875	44060875	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:44060875C>G	ENST00000571987.1	+	5	705	c.705C>G	c.(703-705)tcC>tcG	p.S235S	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.S235S|MAPT_ENST00000262410.5_Silent_p.S235S|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Silent_p.S235S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	235					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CCCCTCCCTCCAAGGCCTCCC	0.687																																							uc002ijr.3		NA																	0				pancreas(1)	1						c.(703-705)TCC>TCG		microtubule-associated protein tau isoform 1							31.0	21.0	24.0					17																	44060875		2173	4254	6427	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060875C>G	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.705C>G	17.37:g.44060875C>G						MAPT_uc010dau.2_Silent_p.S235S|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.S235S	NM_016835	NP_058519	P10636	TAU_HUMAN			6	1025	+		Melanoma(429;0.216)	235					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.705C>G	CCDS11501.1																																																																																				0.687	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		19	15	0	0	0	0.001882	0	19	15				
HOXB4	3214	broad.mit.edu	37	17	46654196	46654196	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:46654196A>T	ENST00000332503.5	-	2	2435	c.644T>A	c.(643-645)aTg>aAg	p.M215K	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000465120.3_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000498678.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	215					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TTTCCACTTCATGCGCCGGTT	0.652																																							uc002inp.2		NA																	0				ovary(1)	1						c.(643-645)ATG>AAG		homeobox B4							86.0	91.0	89.0					17																	46654196		2203	4300	6503	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46654196A>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.644T>A	17.37:g.46654196A>T	ENSP00000328928:p.Met215Lys					HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	p.M215K	NM_024015	NP_076920	P17483	HXB4_HUMAN			2	706	-			215			Homeobox.		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.644T>A	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543585	0.86022	.	.	ENSG00000182742	ENST00000332503	D	0.96365	-3.99	5.78	4.69	0.59074	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	10	0.87932	D	0	.	12.8923	0.58078	0.8641:0.1359:0.0:0.0	.	215	P17483	HXB4_HUMAN	K	215	ENSP00000328928:M215K	ENSP00000328928:M215K	M	-	2	0	HOXB4	44009195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.318000	0.96334	0.993000	0.38866	0.454000	0.30748	ATG		0.652	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			111	25	0	0	0	0.00361	0	111	25				
TTLL6	284076	broad.mit.edu	37	17	46868791	46868791	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:46868791G>C	ENST00000393382.3	-	9	1314	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	TTLL6_ENST00000433608.2_Missense_Mutation_p.I84M	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAAAGCCCAGGATCTCAAAGC	0.542											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010wlo.1		NA																	0					0						c.(1171-1173)ATC>ATG		tubulin tyrosine ligase-like family, member 6							189.0	154.0	166.0					17																	46868791		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46868791G>C	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1173C>G	17.37:g.46868791G>C	ENSP00000377043:p.Ile391Met		OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_uc002iob.2_Missense_Mutation_p.I84M|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.I144M|TTLL6_uc002iod.2_Missense_Mutation_p.I238M	p.I391M	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			10	1208	-			343			TTL.			Missense_Mutation	SNP	ENST00000393382.3	37	c.1173C>G	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256019	0.39896	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.77	3.76	0.43208	ATP-grasp fold, subdomain 2 (1);	0.000000	0.64402	D	0.000001	T	0.71099	0.3300	M	0.74467	2.265	0.35653	D	0.811961	P;D;D	0.89917	0.936;1.0;0.982	D;D;P	0.77004	0.925;0.989;0.872	T	0.78373	-0.2229	9	0.87932	D	0	.	7.5919	0.28025	0.1481:0.0:0.7155:0.1363	.	343;144;84	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	M	391;84;69;343	.	ENSP00000302547:I84M	I	-	3	3	TTLL6	44223790	0.999000	0.42202	1.000000	0.80357	0.440000	0.31957	0.412000	0.21131	1.584000	0.49913	-0.137000	0.14449	ATC		0.542	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		28	4	0	0	0	0.005443	0	28	4				
ABI3	51225	broad.mit.edu	37	17	47295217	47295217	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:47295217G>T	ENST00000225941.1	+	3	900	c.402G>T	c.(400-402)acG>acT	p.T134T	ABI3_ENST00000419580.2_Silent_p.T128T	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	134					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCCTCTCACGCCCTACTGCA	0.632										HNSCC(55;0.14)																													uc002iop.1		NA																	0					0						c.(400-402)ACG>ACT		NESH protein isoform 1							140.0	136.0	137.0					17																	47295217		2203	4300	6503	SO:0001819	synonymous_variant	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47295217G>T	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.402G>T	17.37:g.47295217G>T		HNSCC(55;0.14)				ABI3_uc002ioq.1_Silent_p.T128T	p.T134T	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		3	900	+			134					C9IZN8|Q9H0P6	Silent	SNP	ENST00000225941.1	37	c.402G>T	CCDS11546.1																																																																																				0.632	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		67	13	1	0	4.15811e-52	0.00361	7.61532e-52	67	13				
ABI3	51225	broad.mit.edu	37	17	47297633	47297633	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:47297633C>A	ENST00000225941.1	+	6	1245	c.747C>A	c.(745-747)gcC>gcA	p.A249A	ABI3_ENST00000419580.2_Silent_p.A243A	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	249	Pro-rich.				cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CACCAGCAGCCGTCGAGGTGT	0.692										HNSCC(55;0.14)																													uc002iop.1		NA																	0					0						c.(745-747)GCC>GCA		NESH protein isoform 1							37.0	33.0	35.0					17																	47297633		2200	4299	6499	SO:0001819	synonymous_variant	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47297633C>A	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.747C>A	17.37:g.47297633C>A		HNSCC(55;0.14)				ABI3_uc002ioq.1_Silent_p.A243A	p.A249A	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		6	1245	+			249			Pro-rich.		C9IZN8|Q9H0P6	Silent	SNP	ENST00000225941.1	37	c.747C>A	CCDS11546.1																																																																																				0.692	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428		17	3	1	0	9.16793e-09	0.00499	1.08578e-08	17	3				
SGCA	6442	broad.mit.edu	37	17	48245326	48245326	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:48245326G>A	ENST00000262018.3	+	4	367	c.331G>A	c.(331-333)Gac>Aac	p.D111N	SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000451235.2_Missense_Mutation_p.D9N|SGCA_ENST00000344627.6_Missense_Mutation_p.D111N|SGCA_ENST00000543315.1_Missense_Mutation_p.D111N|RP11-893F2.14_ENST00000572855.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	111					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTACAATCGGGACAGCTTTGA	0.587																																							uc002iqi.2		NA																	0				ovary(2)	2						c.(331-333)GAC>AAC		sarcoglycan, alpha isoform 1 precursor							133.0	126.0	128.0					17																	48245326		2203	4300	6503	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245326G>A	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.331G>A	17.37:g.48245326G>A	ENSP00000262018:p.Asp111Asn					SGCA_uc010wmh.1_Missense_Mutation_p.D9N|SGCA_uc002iqj.2_Missense_Mutation_p.D111N|SGCA_uc010wmi.1_RNA	p.D111N	NM_000023	NP_000014	Q16586	SGCA_HUMAN			4	367	+			111			Extracellular (Potential).		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.331G>A	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895051	0.72639	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315;ENST00000451235;ENST00000511303	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	4.77	2.6	0.31112	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.570412	0.18874	N	0.128746	D	0.96005	0.8699	L	0.44542	1.39	0.27797	N	0.942606	P;D;P	0.69078	0.916;0.997;0.801	P;D;P	0.66196	0.741;0.942;0.516	D	0.89839	0.4001	10	0.15499	T	0.54	-17.1902	6.0773	0.19923	0.1046:0.1917:0.7037:0.0	.	9;111;111	B7Z1L1;Q16586-2;Q16586	.;.;SGCA_HUMAN	N	111;111;111;9;18	ENSP00000345522:D111N;ENSP00000262018:D111N;ENSP00000444539:D111N;ENSP00000390371:D9N;ENSP00000426104:D18N	ENSP00000262018:D111N	D	+	1	0	SGCA	45600325	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.619000	0.46401	1.109000	0.41680	0.462000	0.41574	GAC		0.587	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		69	23	0	0	0	0.00361	0	69	23				
CACNA1G	8913	broad.mit.edu	37	17	48696314	48696314	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:48696314T>C	ENST00000359106.5	+	33	5726	c.5726T>C	c.(5725-5727)cTg>cCg	p.L1909P	CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1875P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L1891P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L1852P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L1891P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1864P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1909P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L1902P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1875P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L1875P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L1886P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L1909P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L1875P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L1884P|CACNA1G_ENST00000352832.5_Missense_Mutation_p.L1875P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L1864P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1886P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L1909P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L1868P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1898P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L1857P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L1916P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1909					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGGGCTCTGCACCCAGCG	0.711																																							uc002irk.1		NA																	0				breast(1)	1						c.(5725-5727)CTG>CCG		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						11.0	15.0	14.0					17																	48696314		1875	4076	5951	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696314T>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5726T>C	17.37:g.48696314T>C	ENSP00000352011:p.Leu1909Pro					CACNA1G_uc002irj.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irl.1_Missense_Mutation_p.L1886P|CACNA1G_uc002irm.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irn.1_Missense_Mutation_p.L1868P|CACNA1G_uc002iro.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irp.1_Missense_Mutation_p.L1909P|CACNA1G_uc002irq.1_Missense_Mutation_p.L1886P|CACNA1G_uc002irr.1_Missense_Mutation_p.L1909P|CACNA1G_uc002irs.1_Missense_Mutation_p.L1898P|CACNA1G_uc002irt.1_Missense_Mutation_p.L1891P|CACNA1G_uc002irv.1_Missense_Mutation_p.L1898P|CACNA1G_uc002irw.1_Missense_Mutation_p.L1886P|CACNA1G_uc002iru.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irx.1_Missense_Mutation_p.L1822P|CACNA1G_uc002iry.1_Missense_Mutation_p.L1811P|CACNA1G_uc002irz.1_Missense_Mutation_p.L1815P|CACNA1G_uc002isa.1_Missense_Mutation_p.L1788P|CACNA1G_uc002isb.1_Missense_Mutation_p.L1829P|CACNA1G_uc002isc.1_Missense_Mutation_p.L1811P|CACNA1G_uc002isd.1_Missense_Mutation_p.L1797P|CACNA1G_uc002ise.1_Missense_Mutation_p.L1777P|CACNA1G_uc002isf.1_Missense_Mutation_p.L1804P|CACNA1G_uc002isg.1_Missense_Mutation_p.L1770P|CACNA1G_uc002ish.1_Missense_Mutation_p.L1777P|CACNA1G_uc002isi.1_Missense_Mutation_p.L1765P	p.L1909P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6098	+	Breast(11;6.7e-17)		1909			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5726T>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	7.976	0.750179	0.15778	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96685	-3.98;-3.98;-3.88;-3.99;-3.91;-4.01;-4.09;-4.05;-4.06;-4.08;-3.91;-3.91;-3.98;-3.98;-3.87;-4.02;-3.99;-3.91;-4.02;-3.98;-3.92;-4.03;-3.91;-4.02;-4.02	4.8	1.57	0.23409	.	32.430700	0.00166	N	0.000000	D	0.87787	0.6265	N	0.01168	-0.975	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.81621	-0.0850	10	0.21014	T	0.42	.	7.761	0.28953	0.0:0.6483:0.0:0.3517	.	1852;1864;1857;1891;1864;1884;1916;1875;1902;1898;1909;1886;1898;1898;1891;1898;1909;1886;1909;1875;1868;1875;1886;1909;1875	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	P	1886;1875;1875;1868;1886;1898;1864;1852;1857;1875;1909;1898;1864;1902;1875;1909;1884;1898;1916;1875;1909;1891;1891;1909;1898	ENSP00000353990:L1886P;ENSP00000339302:L1875P;ENSP00000347078:L1875P;ENSP00000409759:L1868P;ENSP00000425522:L1886P;ENSP00000426261:L1898P;ENSP00000425451:L1864P;ENSP00000422407:L1852P;ENSP00000426814:L1857P;ENSP00000427238:L1875P;ENSP00000423112:L1909P;ENSP00000420918:L1898P;ENSP00000426172:L1864P;ENSP00000423045:L1902P;ENSP00000427173:L1875P;ENSP00000426098:L1909P;ENSP00000425698:L1884P;ENSP00000426232:L1898P;ENSP00000423317:L1916P;ENSP00000350979:L1875P;ENSP00000352011:L1909P;ENSP00000414388:L1891P;ENSP00000423155:L1891P;ENSP00000422268:L1909P;ENSP00000421518:L1898P	ENSP00000339302:L1875P	L	+	2	0	CACNA1G	46051313	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.519000	0.06260	0.063000	0.16370	0.451000	0.29950	CTG		0.711	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		26	7	0	0	0	0.007291	0	26	7				
CA10	56934	broad.mit.edu	37	17	49825100	49825100	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:49825100C>G	ENST00000285273.4	-	5	1469	c.358G>C	c.(358-360)Ggg>Cgg	p.G120R	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.G126R|CA10_ENST00000451037.2_Missense_Mutation_p.G120R|CA10_ENST00000570565.1_Missense_Mutation_p.G45R|CA10_ENST00000442502.2_Missense_Mutation_p.G120R	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	120					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	GTCATGGGCCCTCCAGATATG	0.557																																							uc002itw.3		NA																	0				ovary(1)|skin(1)	2						c.(358-360)GGG>CGG		carbonic anhydrase X							164.0	149.0	154.0					17																	49825100		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49825100C>G	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.358G>C	17.37:g.49825100C>G	ENSP00000285273:p.Gly120Arg					CA10_uc002itu.3_Missense_Mutation_p.G49R|CA10_uc002itv.3_Missense_Mutation_p.G126R|CA10_uc002itx.3_Missense_Mutation_p.G120R|CA10_uc002ity.3_Missense_Mutation_p.G120R|CA10_uc002itz.2_Missense_Mutation_p.G120R	p.G120R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		4	1344	-			120					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.358G>C	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	c	32	5.147779	0.94603	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.72	5.72	0.89469	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.996;0.997	D	0.91369	0.5118	9	.	.	.	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	120;126;45	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	R	120;120;120;126	ENSP00000390666:G120R;ENSP00000285273:G120R;ENSP00000405388:G120R;ENSP00000340363:G126R	.	G	-	1	0	CA10	47180099	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.745000	0.85046	2.865000	0.98341	0.655000	0.94253	GGG		0.557	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		74	13	0	0	0	0.00361	0	74	13				
RNF43	54894	broad.mit.edu	37	17	56435163	56435163	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:56435163C>A	ENST00000584437.1	-	8	3929	c.1974G>T	c.(1972-1974)ggG>ggT	p.G658G	RNF43_ENST00000583753.1_Silent_p.G617G|RNF43_ENST00000577625.1_Silent_p.G531G|RNF43_ENST00000581868.1_Silent_p.G531G|RNF43_ENST00000577716.1_Silent_p.G658G|RNF43_ENST00000500597.2_Silent_p.G617G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Silent_p.G658G			Q68DV7	RNF43_HUMAN	ring finger protein 43	658	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGAGGGACCCCCCCGCCTTT	0.602																																							uc002iwf.2		NA																	0				ovary(1)	1						c.(1972-1974)GGG>GGT		ring finger protein 43 precursor							63.0	76.0	72.0					17																	56435163		2203	4299	6502	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435163C>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1974G>T	17.37:g.56435163C>A						RNF43_uc010wnv.1_Silent_p.G617G|RNF43_uc002iwh.3_Silent_p.G658G|RNF43_uc002iwg.3_Silent_p.G658G|RNF43_uc010dcw.2_Silent_p.G531G	p.G658G	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	3930	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		658			Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.1974G>T	CCDS11607.1																																																																																				0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		90	28	1	0	1.80868e-48	0.00361	3.28449e-48	90	28				
RNF43	54894	broad.mit.edu	37	17	56438273	56438273	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:56438273G>A	ENST00000584437.1	-	6	2675	c.720C>T	c.(718-720)atC>atT	p.I240I	RNF43_ENST00000583753.1_Silent_p.I199I|RNF43_ENST00000577625.1_Silent_p.I113I|RNF43_ENST00000581868.1_Silent_p.I113I|RNF43_ENST00000577716.1_Silent_p.I240I|RNF43_ENST00000500597.2_Silent_p.I199I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Silent_p.I240I			Q68DV7	RNF43_HUMAN	ring finger protein 43	240					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCTGGCTGATGGCCCAGG	0.652																																							uc002iwf.2		NA																	0				ovary(1)	1						c.(718-720)ATC>ATT		ring finger protein 43 precursor							35.0	36.0	36.0					17																	56438273		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56438273G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.720C>T	17.37:g.56438273G>A						RNF43_uc010wnv.1_Silent_p.I199I|RNF43_uc002iwh.3_Silent_p.I240I|RNF43_uc002iwg.3_Silent_p.I240I|RNF43_uc010dcw.2_Silent_p.I113I	p.I240I	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			6	2676	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		240			Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.720C>T	CCDS11607.1																																																																																				0.652	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		19	4	0	0	0	0.010504	0	19	4				
MED13	9969	broad.mit.edu	37	17	60107008	60107009	+	Missense_Mutation	DNP	TC	TC	GA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:60107008_60107009TC>GA	ENST00000397786.2	-	8	1252_1253	c.1176_1177GA>TC	c.(1174-1179)agGAag>agTCag	p.392_393RK>SQ	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	392				R -> K (in Ref. 1; AAD22032). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAGAATACTTCCTCCTAAGAT	0.337																																							uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1174-1179)AGGAAG>AGTCAG		mediator complex subunit 13																																				SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60107008_60107009TC>GA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1176_1177delinsGA	17.37:g.60107008_60107009delinsGA	ENSP00000380888:p.R392_K393delinsSQ					MED13_uc002izp.2_Missense_Mutation_p.8_9RK>SQ	p.392_393RK>SQ	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			8	1253_1254	-			392_393					B2RU05|O60334	Missense_Mutation	DNP	ENST00000397786.2	37	c.1176_1177GA>TC	CCDS42366.1																																																																																				0.337	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		32	6	0	0	0	0.004672	0	32	6				
SMARCD2	6603	broad.mit.edu	37	17	61911024	61911024	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:61911024C>T	ENST00000448276.2	-	10	1505	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D366N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D339N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	414					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TTCAGTGGGTCGTCCACCTCC	0.562																																							uc010deb.1		NA																	0					0						c.(1240-1242)GAC>AAC		SWI/SNF-related matrix-associated							97.0	100.0	99.0					17																	61911024		2118	4237	6355	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61911024C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1240G>A	17.37:g.61911024C>T	ENSP00000392617:p.Asp414Asn					SMARCD2_uc010wpt.1_Missense_Mutation_p.D366N|SMARCD2_uc010dea.1_Missense_Mutation_p.D339N|SMARCD2_uc010dec.1_Missense_Mutation_p.D393N	p.D414N	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN			10	1557	-			414					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1240G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.828605	0.32329	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.53640	0.61;0.64	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	H	0.94698	3.57	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.77557	0.99;0.783;0.913	T	0.83054	-0.0151	10	0.66056	D	0.02	-5.9815	16.8112	0.85720	0.0:1.0:0.0:0.0	.	366;377;414	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	414;356;377;366	ENSP00000392617:D414N;ENSP00000318451:D366N	ENSP00000225742:D356N	D	-	1	0	SMARCD2	59264756	1.000000	0.71417	0.997000	0.53966	0.019000	0.09904	7.651000	0.83577	2.837000	0.97791	0.655000	0.94253	GAC		0.562	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		13	51	0	0	0	0.00245	0	13	51				
GH2	2689	broad.mit.edu	37	17	61957865	61957865	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:61957865C>A	ENST00000423893.2	-	5	531	c.470G>T	c.(469-471)gGc>gTc	p.G157V	GH2_ENST00000456543.2_Missense_Mutation_p.A156S|GH2_ENST00000449787.2_Missense_Mutation_p.G142V|GH2_ENST00000332800.7_Missense_Mutation_p.W241C			P01242	SOM2_HUMAN	growth hormone 2	157					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CCGGGGGCTGCCATCTTCCAG	0.542																																							uc002jco.1		NA																	0				upper_aerodigestive_tract(2)|pancreas(1)	3						c.(469-471)GGC>GTC		growth hormone 2 isoform 1							99.0	91.0	94.0					17																	61957865		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61957865C>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.470G>T	17.37:g.61957865C>A	ENSP00000409294:p.Gly157Val					GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.W241C|GH2_uc002jcm.1_Missense_Mutation_p.A156S|GH2_uc002jcn.1_Missense_Mutation_p.G142V	p.G157V	NM_002059	NP_002050	P01242	SOM2_HUMAN			5	532	-			157					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.470G>T	CCDS11647.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	11.95|11.95|11.95	1.791458|1.791458|1.791458	0.31685|0.31685|0.31685	.|.|.	.|.|.	ENSG00000136487|ENSG00000136487|ENSG00000136487	ENST00000456543|ENST00000423893;ENST00000449787|ENST00000332800	D|D;D|D	0.88431|0.87887|0.89270	-2.38|-2.31;-2.31|-2.49	2.74|2.74|2.74	1.74|1.74|1.74	0.24563|0.24563|0.24563	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);|.	.|.|.	.|.|.	.|.|.	.|.|.	D|D|D	0.90314|0.90314|0.90314	0.6970|0.6970|0.6970	.|.|.	.|.|.	.|.|.	0.41032|0.41032|0.41032	D|D|D	0.985164|0.985164|0.985164	B|B;D|D	0.34372|0.67145|0.58620	0.451|0.067;0.996|0.983	B|B;D|P	0.35727|0.65140|0.57244	0.209|0.079;0.932|0.816	D|D|D	0.87335|0.87335|0.87335	0.2327|0.2327|0.2327	8|8|8	0.72032|0.48119|0.40728	D|T|T	0.01|0.1|0.16	.|.|.	8.4599|8.4599|8.4599	0.32921|0.32921|0.32921	0.0:0.8753:0.0:0.1247|0.0:0.8753:0.0:0.1247|0.0:0.8753:0.0:0.1247	.|.|.	156|157;142|241	O14644|P01242;O14643|B1A4H7	.|SOM2_HUMAN;.|.	S|V|C	156|157;142|241	ENSP00000394122:A156S|ENSP00000409294:G157V;ENSP00000410618:G142V|ENSP00000333157:W241C	ENSP00000394122:A156S|ENSP00000409294:G157V|ENSP00000333157:W241C	A|G|W	-|-|-	1|2|3	0|0|0	GH2|GH2|GH2	59311597|59311597|59311597	0.993000|0.993000|0.993000	0.37304|0.37304|0.37304	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.639000|0.639000|0.639000	0.38242|0.38242|0.38242	1.832000|1.832000|1.832000	0.39151|0.39151|0.39151	0.478000|0.478000|0.478000	0.27488|0.27488|0.27488	0.306000|0.306000|0.306000	0.20318|0.20318|0.20318	GCA|GGC|TGG		0.542	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		69	11	1	0	9.68594e-22	0.00361	1.47153e-21	69	11				
ABCA6	23460	broad.mit.edu	37	17	67079063	67079063	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:67079063C>G	ENST00000284425.2	-	36	4741	c.4567G>C	c.(4567-4569)Gtc>Ctc	p.V1523L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1523					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCAGTGTGGACCAAAGTCACT	0.453																																							uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4567-4569)GTC>CTC		ATP-binding cassette, sub-family A, member 6							222.0	223.0	223.0					17																	67079063		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079063C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4567G>C	17.37:g.67079063C>G	ENSP00000284425:p.Val1523Leu						p.V1523L	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			36	4742	-	Breast(10;5.65e-12)		1523					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4567G>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	1.688	-0.504776	0.04261	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.70516	-0.49	5.03	0.209	0.15226	.	0.342854	0.21056	N	0.080907	T	0.38054	0.1026	N	0.02854	-0.475	0.40601	D	0.981586	B	0.02656	0.0	B	0.04013	0.001	T	0.42932	-0.9422	10	0.02654	T	1	.	11.4758	0.50297	0.0:0.2886:0.6301:0.0813	.	1523	Q8N139	ABCA6_HUMAN	L	1523;383	ENSP00000284425:V1523L	ENSP00000284425:V1523L	V	-	1	0	ABCA6	64590658	0.786000	0.28738	0.204000	0.23530	0.901000	0.52897	1.196000	0.32198	0.331000	0.23511	0.650000	0.86243	GTC		0.453	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		140	47	0	0	0	0.00361	0	140	47				
ABCA10	10349	broad.mit.edu	37	17	67186585	67186585	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:67186585T>A	ENST00000269081.4	-	19	2954	c.2045A>T	c.(2044-2046)cAg>cTg	p.Q682L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	682					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTTATGCCCTGGTCAGAACA	0.313																																							uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2044-2046)CAG>CTG		ATP-binding cassette, sub-family A, member 10							92.0	88.0	89.0					17																	67186585		2203	4299	6502	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67186585T>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2045A>T	17.37:g.67186585T>A	ENSP00000269081:p.Gln682Leu					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.Q283L	p.Q682L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			19	2924	-	Breast(10;6.95e-12)		682					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.2045A>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	T	9.866	1.197645	0.22037	.	.	ENSG00000154263	ENST00000269081	D	0.84442	-1.85	2.99	-0.326	0.12698	.	0.000000	0.32401	U	0.006156	T	0.55353	0.1915	N	0.01631	-0.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.52845	-0.8521	10	0.02654	T	1	.	9.108	0.36710	0.6484:0.0:0.0:0.3516	.	682;682	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	L	682	ENSP00000269081:Q682L	ENSP00000269081:Q682L	Q	-	2	0	ABCA10	64698180	0.000000	0.05858	0.005000	0.12908	0.889000	0.51656	-1.536000	0.02208	-0.298000	0.08921	0.460000	0.39030	CAG		0.313	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		27	8	0	0	0	0.009535	0	27	8				
TRIM47	91107	broad.mit.edu	37	17	73870763	73870763	+	Missense_Mutation	SNP	C	C	A	rs374791209		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:73870763C>A	ENST00000254816.2	-	6	1744	c.1718G>T	c.(1717-1719)cGg>cTg	p.R573L	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.R335L	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	573	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCAGCCTCCGCAGGAGGCT	0.677																																							uc002jpw.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1717-1719)CGG>CTG		tripartite motif-containing 47							28.0	35.0	33.0					17																	73870763		2203	4298	6501	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870763C>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1718G>T	17.37:g.73870763C>A	ENSP00000254816:p.Arg573Leu					TRIM47_uc002jpv.2_Missense_Mutation_p.R335L	p.R573L	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1745	-			573			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1718G>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903050	0.52227	.	.	ENSG00000132481	ENST00000254816	T	0.59772	0.24	5.18	3.99	0.46301	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.119936	0.37761	N	0.001960	T	0.38852	0.1056	N	0.14661	0.345	0.41351	D	0.987366	P	0.40266	0.71	B	0.42593	0.392	T	0.24083	-1.0170	10	0.41790	T	0.15	.	6.0109	0.19575	0.0:0.7134:0.0:0.2866	.	573	Q96LD4	TRI47_HUMAN	L	573	ENSP00000254816:R573L	ENSP00000254816:R573L	R	-	2	0	TRIM47	71382358	1.000000	0.71417	0.990000	0.47175	0.843000	0.47879	4.410000	0.59774	2.426000	0.82243	0.561000	0.74099	CGG		0.677	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			40	11	1	0	2.87052e-16	0.005524	3.9485e-16	40	11				
MGAT5B	146664	broad.mit.edu	37	17	74902137	74902137	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:74902137G>T	ENST00000569840.2	+	8	1467	c.893G>T	c.(892-894)gGg>gTg	p.G298V	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G298V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G309V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	298					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGAGTCCGGGGACGTGTTC	0.667																																							uc002jti.2		NA																	0				ovary(2)|skin(1)	3						c.(925-927)GGG>GTG		N-acetylglucosaminyltranferase VB isoform 2							62.0	67.0	65.0					17																	74902137		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74902137G>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.893G>T	17.37:g.74902137G>T	ENSP00000456037:p.Gly298Val					MGAT5B_uc002jth.2_Missense_Mutation_p.G298V	p.G309V	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			7	1029	+			298			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.926G>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591652	0.86953	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.51071	0.73;0.72	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73448	-0.3979	10	0.87932	D	0	-41.8616	18.3437	0.90314	0.0:0.0:1.0:0.0	.	309;298	Q3V5L5-2;Q3V5L5-5	.;.	V	298;298;309	ENSP00000301618:G298V;ENSP00000391227:G309V	ENSP00000301618:G298V	G	+	2	0	MGAT5B	72413732	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.643000	0.98464	2.574000	0.86865	0.455000	0.32223	GGG		0.667	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		51	20	1	0	2.30037e-20	0.00361	3.41698e-20	51	20				
AFMID	125061	broad.mit.edu	37	17	76201752	76201752	+	Missense_Mutation	SNP	G	G	A	rs532591411	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:76201752G>A	ENST00000327898.5	+	9	722	c.713G>A	c.(712-714)cGt>cAt	p.R238H	AFMID_ENST00000409257.5_Missense_Mutation_p.R238H|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCACCTGCCGTGTGCTGGTG	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15802	0.0		0.0	False		,,,				2504	0.0						uc002jva.3		NA																	0				large_intestine(1)|pancreas(1)	2						c.(712-714)CGT>CAT		arylformamidase isoform 1							50.0	52.0	51.0					17																	76201752		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76201752G>A	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.713G>A	17.37:g.76201752G>A	ENSP00000328938:p.Arg238His					AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.R238H	p.R238H	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		9	728	+			238						Missense_Mutation	SNP	ENST00000327898.5	37	c.713G>A	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691256	0.30052	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.12255	2.7;2.7	4.83	-9.66	0.00534	Alpha/beta hydrolase fold-3 (1);	1.222860	0.05619	N	0.579520	T	0.07413	0.0187	N	0.20610	0.595	0.09310	N	1	B;B	0.15141	0.012;0.01	B;B	0.08055	0.003;0.002	T	0.30357	-0.9981	10	0.37606	T	0.19	-0.755	9.3979	0.38415	0.4549:0.128:0.4171:0.0	.	238;238	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	H	238	ENSP00000386890:R238H;ENSP00000328938:R238H	ENSP00000328938:R238H	R	+	2	0	AFMID	73713347	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.245000	0.08890	-2.754000	0.00373	-1.310000	0.01310	CGT		0.647	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		32	6	0	0	0	0.002445	0	32	6				
ENPP7	339221	broad.mit.edu	37	17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGATCTGCTCTCCCGCCC	0.597																																							uc002jxa.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1300-1302)GCT>GAT		ectonucleotide pyrophosphatase/phosphodiesterase							109.0	98.0	102.0					17																	77711769		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711769C>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1301C>A	17.37:g.77711769C>A	ENSP00000332656:p.Ala434Asp						p.A434D	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1321	+			434			Helical; (Potential).			Missense_Mutation	SNP	ENST00000328313.5	37	c.1301C>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101210	0.08731	.	.	ENSG00000182156	ENST00000328313	T	0.74106	-0.81	2.32	2.32	0.28847	.	1.464090	0.05503	U	0.558779	T	0.53077	0.1774	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.38954	0.286	T	0.50499	-0.8821	10	0.33141	T	0.24	.	8.2235	0.31556	0.0:1.0:0.0:0.0	.	434	Q6UWV6	ENPP7_HUMAN	D	434	ENSP00000332656:A434D	ENSP00000332656:A434D	A	+	2	0	ENPP7	75326364	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	1.609000	0.50190	0.462000	0.41574	GCT		0.597	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		55	17	1	0	2.17126e-26	0.00361	3.49352e-26	55	17				
TSPAN10	83882	broad.mit.edu	37	17	79612613	79612613	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:79612613G>A	ENST00000572675.1	+	0	632				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTCGGGCTGAGGTGCTGCGGA	0.657																																							uc010die.2		NA																	0				ovary(1)	1						c.(631-633)AGG>AAG		tetraspanin 10							22.0	25.0	24.0					17																	79612613		2177	4274	6451			83882					integral to membrane		g.chr17:79612613G>A	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612613G>A						TSPAN10_uc002kaw.1_Missense_Mutation_p.R211K|TSPAN10_uc010did.1_RNA	p.R211K	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	722	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		211					Q8N548	Missense_Mutation	SNP	ENST00000572675.1	37	c.632G>A		.	.	.	.	.	.	.	.	.	.	G	1.709	-0.499516	0.04291	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.78246	-1.16	4.15	-2.39	0.06602	Tetraspanin, EC2 domain (1);	0.309478	0.31199	N	0.008069	T	0.46210	0.1381	N	0.03903	-0.33	0.20074	N	0.999937	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.43845	-0.9366	10	0.02654	T	1	-3.4827	11.57	0.50829	0.5119:0.0:0.4881:0.0	.	211;211	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	K	211	ENSP00000331620:R211K	ENSP00000331620:R211K	R	+	2	0	TSPAN10	77223018	0.195000	0.23338	0.910000	0.35882	0.198000	0.23893	-0.107000	0.10873	-0.778000	0.04566	-1.587000	0.00848	AGG		0.657	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		15	4	0	0	0	0.00245	0	15	4				
ZBTB14	7541	broad.mit.edu	37	18	5291177	5291177	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:5291177G>A	ENST00000357006.4	-	4	1368	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R344C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	344					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										TCTGGGGCACGGATAAATGAT	0.448																																							uc002kmq.2		NA																	0				ovary(1)	1						c.(1030-1032)CGT>TGT		zinc finger protein 161 homolog							164.0	158.0	160.0					18																	5291177		2203	4300	6503	SO:0001583	missense	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5291177G>A	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1030C>T	18.37:g.5291177G>A	ENSP00000349503:p.Arg344Cys					ZFP161_uc002kmr.2_Missense_Mutation_p.R344C|ZFP161_uc010dkp.2_Missense_Mutation_p.R344C	p.R344C	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	1191	-			344			C2H2-type 3.		O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1030C>T	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388817	0.61956	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.08102	3.13;3.13	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.28366	0.0701	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.00068	-1.2140	10	0.39692	T	0.17	-14.2062	20.053	0.97634	0.0:0.0:1.0:0.0	.	344	O43829	ZF161_HUMAN	C	344	ENSP00000349503:R344C;ENSP00000383009:R344C	ENSP00000349503:R344C	R	-	1	0	ZFP161	5281177	1.000000	0.71417	0.456000	0.27044	0.793000	0.44817	5.259000	0.65485	2.733000	0.93635	0.650000	0.86243	CGT		0.448	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		107	14	0	0	0	0.00361	0	107	14				
PTPRM	5797	broad.mit.edu	37	18	8370953	8370953	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:8370953A>G	ENST00000332175.8	+	22	4118	c.3081A>G	c.(3079-3081)atA>atG	p.I1027M	PTPRM_ENST00000580170.1_Missense_Mutation_p.I1040M|PTPRM_ENST00000400053.4_Missense_Mutation_p.I965M|PTPRM_ENST00000444013.1_Missense_Mutation_p.I814M|PTPRM_ENST00000400060.4_Missense_Mutation_p.I1041M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1027	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTACCCTAATAGAAACAGAAC	0.338																																							uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3079-3081)ATA>ATG		protein tyrosine phosphatase, receptor type, M							95.0	96.0	96.0					18																	8370953		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8370953A>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3081A>G	18.37:g.8370953A>G	ENSP00000331418:p.Ile1027Met					PTPRM_uc010dkv.2_Missense_Mutation_p.I1040M|PTPRM_uc010wzl.1_Missense_Mutation_p.I814M	p.I1027M	NM_002845	NP_002836	P28827	PTPRM_HUMAN			22	3584	+		Colorectal(10;0.234)	1027			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3081A>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373455	0.61624	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	N	0.20807	0.61	0.48632	D	0.999686	D;D;D	0.62365	0.969;0.97;0.991	D;P;D	0.76575	0.955;0.821;0.988	D	0.85431	0.1149	10	0.72032	D	0.01	.	11.141	0.48402	0.8624:0.0:0.0:0.1376	.	814;1040;1027	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	1027;1041;965;814	ENSP00000331418:I1027M;ENSP00000382933:I1041M;ENSP00000382927:I965M;ENSP00000387608:I814M	ENSP00000331418:I1027M	I	+	3	3	PTPRM	8360953	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.751000	0.47508	2.240000	0.73641	0.528000	0.53228	ATA		0.338	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			23	41	0	0	0	0.002299	0	23	41				
MTCL1	23255	broad.mit.edu	37	18	8784148	8784148	+	Missense_Mutation	SNP	C	C	A	rs141911404		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:8784148C>A	ENST00000306329.11	+	5	2118	c.2118C>A	c.(2116-2118)agC>agA	p.S706R	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.S346R|SOGA2_ENST00000517570.1_Missense_Mutation_p.S346R|SOGA2_ENST00000359865.3_Missense_Mutation_p.S346R																							TGCAGATCAGCGAGCTCAGCG	0.692																																							uc002knr.2		NA																	0					0						c.(1036-1038)AGC>AGA		hypothetical protein LOC23255							31.0	37.0	35.0					18																	8784148		2203	4298	6501	SO:0001583	missense	23255							g.chr18:8784148C>A																												ENST00000306329.11:c.2118C>A	18.37:g.8784148C>A	ENSP00000305027:p.Ser706Arg					KIAA0802_uc002knq.2_Missense_Mutation_p.S346R|KIAA0802_uc010dkw.1_Missense_Mutation_p.S184R	p.S346R	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	1180	+			697			Potential.			Missense_Mutation	SNP	ENST00000306329.11	37	c.1038C>A		.	.	.	.	.	.	.	.	.	.	C	6.402	0.442309	0.12164	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T;T	0.76448	-1.02;2.45;2.45;2.45	5.56	-4.18	0.03846	.	0.876247	0.09989	N	0.730047	T	0.77935	0.4205	L	0.50333	1.59	0.80722	D	1	P;P	0.50819	0.939;0.873	P;P	0.51135	0.66;0.529	T	0.76942	-0.2772	10	0.39692	T	0.17	-3.9773	16.4155	0.83732	0.0:0.3238:0.0:0.6762	.	367;346	A8MQ54;Q9Y4B5-3	.;.	R	367;346;346;346	ENSP00000305027:S367R;ENSP00000429556:S346R;ENSP00000352927:S346R;ENSP00000382924:S346R	ENSP00000305027:S367R	S	+	3	2	CCDC165	8774148	0.000000	0.05858	0.023000	0.16930	0.818000	0.46254	-1.151000	0.03175	-0.947000	0.03673	-0.145000	0.13849	AGC		0.692	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			32	49	1	0	2.08457e-15	0.002096	2.82124e-15	32	49				
NDUFV2	4729	broad.mit.edu	37	18	9122556	9122556	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:9122556G>C	ENST00000318388.6	+	5	460	c.346G>C	c.(346-348)Gca>Cca	p.A116P	NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.A119P|RP11-143J12.2_ENST00000583081.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	116					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						ATATGAAGTAGCAACTTTTTA	0.348																																							uc002knu.2		NA																	0				ovary(1)	1						c.(346-348)GCA>CCA		NADH dehydrogenase ubiquinone flavoprotein 2	NADH(DB00157)						108.0	102.0	104.0					18																	9122556		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9122556G>C	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.346G>C	18.37:g.9122556G>C	ENSP00000327268:p.Ala116Pro						p.A116P	NM_021074	NP_066552	P19404	NDUV2_HUMAN			5	413	+			116					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.346G>C	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395253	0.96009	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.59638	0.25;0.25	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92575	0.6069	10	0.87932	D	0	-24.8374	20.3397	0.98756	0.0:0.0:1.0:0.0	.	116	P19404	NDUV2_HUMAN	P	116;119	ENSP00000327268:A116P;ENSP00000382908:A119P	ENSP00000327268:A116P	A	+	1	0	NDUFV2	9112556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	GCA		0.348	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		63	27	0	0	0	0.00361	0	63	27				
PIEZO2	63895	broad.mit.edu	37	18	10671667	10671667	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:10671667G>T	ENST00000503781.3	-	52	8115	c.8116C>A	c.(8116-8118)Cga>Aga	p.R2706R	PIEZO2_ENST00000580640.1_Silent_p.R2731R|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000302079.6_Silent_p.R2643R|PIEZO2_ENST00000285141.4_Silent_p.R498R|PIEZO2_ENST00000538948.1_Silent_p.R663R	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2706					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TTCAAAATTCGATCCACATTT	0.378																																							uc002kor.3		NA																	0				ovary(1)	1						c.(1987-1989)CGA>AGA		family with sequence similarity 38, member B							77.0	76.0	76.0					18																	10671667		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10671667G>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8116C>A	18.37:g.10671667G>T						FAM38B_uc002koq.2_Silent_p.R498R	p.R663R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			14	2127	-			2706					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.1987C>A																																																																																					0.378	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		32	6	1	0	9.78306e-22	0.009535	1.48512e-21	32	6				
GNAL	2774	broad.mit.edu	37	18	11752922	11752922	+	Silent	SNP	C	C	A	rs374877331		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:11752922C>A	ENST00000423027.3	+	2	537	c.216C>A	c.(214-216)ccC>ccA	p.P72P	GNAL_ENST00000535121.1_Silent_p.P72P|GNAL_ENST00000334049.6_Silent_p.P149P|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000269162.5_Silent_p.P72P			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	72					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGTTTAATCCCGAGTAAGAAT	0.428																																							uc010dkz.2		NA																	0				ovary(1)	1						c.(214-216)CCC>CCA		guanine nucleotide binding protein (G protein),							140.0	124.0	130.0					18																	11752922		2203	4300	6503	SO:0001819	synonymous_variant	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752922C>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.216C>A	18.37:g.11752922C>A						GNAL_uc002kqc.2_Silent_p.P149P|GNAL_uc002kqd.2_Silent_p.P72P	p.P72P	NM_001142339	NP_001135811	P38405	GNAL_HUMAN			3	462	+			72					B7ZA26|Q86XU3	Silent	SNP	ENST00000423027.3	37	c.216C>A	CCDS11852.1																																																																																				0.428	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		33	3	1	0	3.67414e-24	0.002445	5.75834e-24	33	3				
MC5R	4161	broad.mit.edu	37	18	13826127	13826127	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:13826127G>T	ENST00000324750.3	+	1	585	c.363G>T	c.(361-363)atG>atT	p.M121I	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	121					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTGACTCCATGATCTGCATTT	0.517																																							uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(361-363)ATG>ATT		melanocortin 5 receptor							146.0	121.0	130.0					18																	13826127		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826127G>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.363G>T	18.37:g.13826127G>T	ENSP00000318077:p.Met121Ile						p.M121I	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	363	+			121			Helical; Name=3; (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.363G>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099249	0.76983	.	.	ENSG00000176136	ENST00000324750	T	0.18338	2.22	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.037941	0.85682	D	0.000000	T	0.31606	0.0802	M	0.82716	2.605	0.80722	D	1	P	0.40000	0.698	B	0.43990	0.438	T	0.11421	-1.0588	10	0.27785	T	0.31	.	17.287	0.87145	0.0:0.0:1.0:0.0	.	121	P33032	MC5R_HUMAN	I	121	ENSP00000318077:M121I	ENSP00000318077:M121I	M	+	3	0	MC5R	13816127	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.383000	0.79741	2.311000	0.77944	0.455000	0.32223	ATG		0.517	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		91	13	1	0	2.36867e-37	0.00361	4.11221e-37	91	13				
MC2R	4158	broad.mit.edu	37	18	13885081	13885081	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:13885081C>A	ENST00000327606.3	-	2	617	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	146			R -> H (in GCCD1).		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R146H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CACCACAGTGCGGCGCATGGT	0.577																																					Colon(141;1584 1782 35999 48227 48692)	Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	1	Substitution - Missense(1)		stomach(1)	ovary(4)|skin(1)	5	GRCh37	CM950793	MC2R	M		c.(436-438)CGC>CTC		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						118.0	96.0	104.0					18																	13885081		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885081C>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.437G>T	18.37:g.13885081C>A	ENSP00000333821:p.Arg146Leu						p.R146L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	614	-			146		R -> H (in GCCD1).	Cytoplasmic (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.437G>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905099	0.72868	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.38240	1.15	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.86805	2.84	0.58432	D	0.999998	B	0.33073	0.396	B	0.36244	0.22	T	0.60434	-0.7264	10	0.87932	D	0	.	18.919	0.92518	0.0:1.0:0.0:0.0	.	146	Q01718	ACTHR_HUMAN	L	146	ENSP00000333821:R146L	ENSP00000333821:R146L	R	-	2	0	MC2R	13875081	1.000000	0.71417	0.943000	0.38184	0.582000	0.36321	5.487000	0.66863	2.469000	0.83416	0.655000	0.94253	CGC		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			46	9	1	0	3.54909e-21	0.002852	5.34991e-21	46	9				
POTEC	388468	broad.mit.edu	37	18	14542843	14542844	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:14542843_14542844CC>AA	ENST00000358970.5	-	1	301_302	c.302_303GG>TT	c.(301-303)tGG>tTT	p.W101F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	101										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGTGACAGCACCACTTGCCCAT	0.619																																							uc010dln.2		NA																	0				skin(3)	3						c.(301-303)TGG>TTT		ANKRD26-like family B, member 2																																				SO:0001583	missense	388468							g.chr18:14542843_14542844CC>AA	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.302_303delinsAA	18.37:g.14542843_14542844delinsAA	ENSP00000351856:p.Trp101Phe					POTEC_uc010xaj.1_RNA	p.W101F	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	756_757	-			101						Missense_Mutation	DNP	ENST00000358970.5	37	c.302_303GG>TT	CCDS45835.1																																																																																				0.619	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		122	86	0	0	0	0.004672	0	122	86				
LAMA3	3909	broad.mit.edu	37	18	21338378	21338378	+	Silent	SNP	G	G	A	rs370117238		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:21338378G>A	ENST00000313654.9	+	7	1207	c.966G>A	c.(964-966)caG>caA	p.Q322Q	LAMA3_ENST00000399516.3_Silent_p.Q322Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	322	Domain V.|Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTGAATGCCAGCACCACACCT	0.557																																							uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(964-966)CAG>CAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	,	1,4155		0,1,2077	36.0	42.0	40.0		966,966	3.4	1.0	18		40	0,8438		0,0,4219	no	coding-synonymous,coding-synonymous	LAMA3	NM_001127717.1,NM_198129.1	,	0,1,6296	AA,AG,GG		0.0,0.0241,0.0079	,	322/3278,322/3334	21338378	1,12593	2078	4219	6297	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21338378G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.966G>A	18.37:g.21338378G>A						LAMA3_uc010dlv.1_Silent_p.Q322Q|LAMA3_uc002kur.2_Silent_p.Q322Q	p.Q322Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			7	1052	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		322			Laminin EGF-like 1.|Domain V.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.966G>A	CCDS42419.1																																																																																				0.557	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		30	3	0	0	0	0.009535	0	30	3				
LAMA3	3909	broad.mit.edu	37	18	21426388	21426388	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:21426388G>T	ENST00000313654.9	+	31	4088	c.3847G>T	c.(3847-3849)Ggg>Tgg	p.G1283W	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1283W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1283	Domain III B.|Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCCTGAGGGTGGGCAGTGCCC	0.657																																							uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3847-3849)GGG>TGG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37.0	40.0	39.0					18																	21426388		1996	4168	6164	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426388G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3847G>T	18.37:g.21426388G>T	ENSP00000324532:p.Gly1283Trp					LAMA3_uc002kur.2_Missense_Mutation_p.G1283W	p.G1283W	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			31	3933	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1283			Laminin EGF-like 9.|Domain III B.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.3847G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829866	0.71258	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.76060	-0.99;-0.99	5.97	5.97	0.96955	EGF-like, laminin (3);	.	.	.	.	D	0.92750	0.7695	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94893	0.8049	9	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	1283;1283	Q6VU67;Q16787	.;LAMA3_HUMAN	W	1283;1283;1281	ENSP00000324532:G1283W;ENSP00000382432:G1283W	ENSP00000324532:G1283W	G	+	1	0	LAMA3	19680386	1.000000	0.71417	0.977000	0.42913	0.137000	0.21094	9.433000	0.97501	2.837000	0.97791	0.655000	0.94253	GGG		0.657	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		96	18	1	0	1.3009e-50	0.00361	2.37577e-50	96	18				
PSMA8	143471	broad.mit.edu	37	18	23738084	23738084	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:23738084A>T	ENST00000308268.6	+	4	461		c.e4-1		PSMA8_ENST00000343848.6_Splice_Site|PSMA8_ENST00000415576.2_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TTATTTTTCTAGAAATATACC	0.303																																							uc002kvq.2		NA																	0				skin(1)	1						c.e4-2		proteasome alpha 8 subunit isoform 1							57.0	59.0	58.0					18																	23738084		2203	4299	6502	SO:0001630	splice_region_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23738084A>T	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.373-1A>T	18.37:g.23738084A>T						PSMA8_uc002kvo.2_Splice_Site_p.K81_splice|PSMA8_uc002kvp.2_Splice_Site_p.K119_splice|PSMA8_uc002kvr.2_Splice_Site_p.K93_splice	p.K125_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		4	487	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)							B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Splice_Site	SNP	ENST00000308268.6	37	c.373_splice	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823667	0.71143	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.459	0.61217	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA8	21992082	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.933000	0.87642	2.275000	0.75901	0.529000	0.55759	.		0.303	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	Intron	50	4	0	0	0	0.00361	0	50	4				
KCTD1	284252	broad.mit.edu	37	18	24039845	24039845	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:24039845C>A	ENST00000408011.3	-	4	913	c.354G>T	c.(352-354)caG>caT	p.Q118H	KCTD1_ENST00000417602.1_Missense_Mutation_p.Q726H|KCTD1_ENST00000580059.1_Missense_Mutation_p.Q118H|KCTD1_ENST00000579973.1_Missense_Mutation_p.Q118H|KCTD1_ENST00000317932.7_Missense_Mutation_p.Q118H	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	118					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACAACATGGGCTGAAGCTGAA	0.438																																							uc002kvw.2		NA																	0				ovary(1)	1						c.(352-354)CAG>CAT		potassium channel tetramerisation domain							92.0	90.0	91.0					18																	24039845		2203	4297	6500	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24039845C>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.354G>T	18.37:g.24039845C>A	ENSP00000384367:p.Gln118His					KCTD1_uc010xbj.1_Missense_Mutation_p.Q726H|KCTD1_uc010xbk.1_Missense_Mutation_p.Q118H|KCTD1_uc002kvy.2_Missense_Mutation_p.Q36H	p.Q118H	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		4	914	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		118					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.354G>T	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494373	0.26774	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.76968	-1.06;-1.06;-1.06	5.13	1.88	0.25563	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	N	0.03268	-0.37	0.58432	D	0.999993	B	0.02656	0.0	B	0.12837	0.008	T	0.48614	-0.9020	10	0.48119	T	0.1	.	11.3701	0.49694	0.0:0.7634:0.0:0.2366	.	118	Q719H9	KCTD1_HUMAN	H	118;726;118	ENSP00000314831:Q118H;ENSP00000408405:Q726H;ENSP00000384367:Q118H	ENSP00000314831:Q118H	Q	-	3	2	KCTD1	22293843	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.533000	0.23082	0.562000	0.29204	0.591000	0.81541	CAG		0.438	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		72	19	1	0	1.14856e-27	0.00361	1.87295e-27	72	19				
DSG1	1828	broad.mit.edu	37	18	28916327	28916327	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:28916327A>G	ENST00000257192.4	+	9	1228	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	339	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCCTTAGATTATGAAGCTATG	0.299																																							uc002kwp.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1015-1017)TAT>TGT		desmoglein 1 preproprotein							51.0	51.0	51.0					18																	28916327		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28916327A>G	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1016A>G	18.37:g.28916327A>G	ENSP00000257192:p.Tyr339Cys						p.Y339C	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		9	1228	+			339			Extracellular (Potential).|Cadherin 3.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1016A>G	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208621	0.58343	.	.	ENSG00000134760	ENST00000257192	T	0.54279	0.58	5.9	3.46	0.39613	Cadherin (5);Cadherin-like (1);	0.106807	0.42172	D	0.000752	T	0.79293	0.4421	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82372	-0.0490	10	0.87932	D	0	.	11.1509	0.48458	0.7541:0.0:0.0:0.2459	.	339	Q02413	DSG1_HUMAN	C	339	ENSP00000257192:Y339C	ENSP00000257192:Y339C	Y	+	2	0	DSG1	27170325	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.643000	0.46604	0.453000	0.26858	0.460000	0.39030	TAT		0.299	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		11	4	0	0	0	0.001855	0	11	4				
SETBP1	26040	broad.mit.edu	37	18	42530404	42530404	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:42530404G>T	ENST00000282030.5	+	4	1395	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	367						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAATACAGAAGGGAAAAGGGA	0.448									Schinzel-Giedion syndrome																														uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1099-1101)GGG>TGG		SET binding protein 1 isoform a							65.0	65.0	65.0					18																	42530404		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530404G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1099G>T	18.37:g.42530404G>T	ENSP00000282030:p.Gly367Trp						p.G367W	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1395	+			367					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1099G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150114	0.57151	.	.	ENSG00000152217	ENST00000282030	T	0.37584	1.19	5.78	5.78	0.91487	.	0.166529	0.53938	D	0.000041	T	0.46171	0.1379	L	0.27053	0.805	0.39633	D	0.970208	D	0.76494	0.999	D	0.71870	0.975	T	0.46176	-0.9210	10	0.87932	D	0	.	13.5635	0.61804	0.0711:0.0:0.9289:0.0	.	367	Q9Y6X0	SETBP_HUMAN	W	367	ENSP00000282030:G367W	ENSP00000282030:G367W	G	+	1	0	SETBP1	40784402	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	3.216000	0.51176	2.894000	0.99253	0.655000	0.94253	GGG		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		32	11	1	0	2.2171e-23	0.009535	3.42756e-23	32	11				
MBD2	8932	broad.mit.edu	37	18	51686216	51686216	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:51686216T>C	ENST00000256429.3	-	6	1395	c.1167A>G	c.(1165-1167)gcA>gcG	p.A389A	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	389					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		ACAAGATGTCTGCCATCAGTG	0.418																																							uc002lfg.1		NA																	0					0						c.(1165-1167)GCA>GCG		methyl-CpG binding domain protein 2 isoform 1	Hexobarbital(DB01355)						187.0	153.0	165.0					18																	51686216		2203	4300	6503	SO:0001819	synonymous_variant	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51686216T>C	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1167A>G	18.37:g.51686216T>C							p.A389A	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	6	1396	-			389					O95242|Q9UIS8	Silent	SNP	ENST00000256429.3	37	c.1167A>G	CCDS11953.1																																																																																				0.418	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		31	6	0	0	0	0.002445	0	31	6				
ALPK2	115701	broad.mit.edu	37	18	56246747	56246747	+	Missense_Mutation	SNP	C	C	A	rs150536488		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:56246747C>A	ENST00000361673.3	-	4	1474	c.1261G>T	c.(1261-1263)Ggt>Tgt	p.G421C	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	421						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GATGAGGGACCGTGCTTGGAG	0.557											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(1261-1263)GGT>TGT		heart alpha-kinase							74.0	76.0	75.0					18																	56246747		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246747C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1261G>T	18.37:g.56246747C>A	ENSP00000354991:p.Gly421Cys		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.G421C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1475	-			421					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1261G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	2.409	-0.335695	0.05278	.	.	ENSG00000198796	ENST00000361673	T	0.42131	0.98	5.39	0.175	0.15045	.	0.404849	0.18195	N	0.148708	T	0.26702	0.0653	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.51615	0.675	T	0.14643	-1.0465	10	0.48119	T	0.1	-0.2064	5.3233	0.15893	0.0:0.1874:0.2569:0.5557	.	421	Q86TB3	ALPK2_HUMAN	C	421	ENSP00000354991:G421C	ENSP00000354991:G421C	G	-	1	0	ALPK2	54397727	0.162000	0.22906	0.001000	0.08648	0.003000	0.03518	0.099000	0.15210	-0.190000	0.10465	-0.258000	0.10820	GGT		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		45	4	1	0	9.39024e-22	0.009718	1.42773e-21	45	4				
ZNF532	55205	broad.mit.edu	37	18	56586262	56586262	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:56586262A>T	ENST00000336078.4	+	4	1519	c.743A>T	c.(742-744)aAg>aTg	p.K248M	ZNF532_ENST00000591808.1_Missense_Mutation_p.K248M|ZNF532_ENST00000589288.1_Missense_Mutation_p.K248M|ZNF532_ENST00000591230.1_Missense_Mutation_p.K248M|ZNF532_ENST00000591083.1_Missense_Mutation_p.K248M	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGCTCCGAGAAGAATGACACC	0.502																																							uc002lho.2		NA																	0				breast(1)|skin(1)	2						c.(742-744)AAG>ATG		zinc finger protein 532							64.0	63.0	63.0					18																	56586262		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586262A>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.743A>T	18.37:g.56586262A>T	ENSP00000338217:p.Lys248Met					ZNF532_uc002lhp.2_Missense_Mutation_p.K246M|ZNF532_uc010xeg.1_Missense_Mutation_p.K246M|ZNF532_uc002lhr.2_Missense_Mutation_p.K246M|ZNF532_uc002lhs.2_Missense_Mutation_p.K246M	p.K248M	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	1290	+			248					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.743A>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	a	10.25	1.299017	0.23650	.	.	ENSG00000074657	ENST00000336078	T	0.01767	4.65	5.36	5.36	0.76844	.	0.309653	0.35495	N	0.003162	T	0.06690	0.0171	M	0.74881	2.28	0.41780	D	0.989811	D	0.71674	0.998	P	0.52514	0.701	T	0.08911	-1.0699	10	0.56958	D	0.05	-20.4574	15.0434	0.71807	1.0:0.0:0.0:0.0	.	248	Q9HCE3	ZN532_HUMAN	M	248	ENSP00000338217:K248M	ENSP00000338217:K248M	K	+	2	0	ZNF532	54737242	1.000000	0.71417	0.986000	0.45419	0.034000	0.12701	4.880000	0.63107	2.039000	0.60335	0.449000	0.29647	AAG		0.502	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		33	8	0	0	0	0.002836	0	33	8				
CDH20	28316	broad.mit.edu	37	18	59221904	59221904	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:59221904G>T	ENST00000262717.4	+	12	2780	c.2382G>T	c.(2380-2382)tcG>tcT	p.S794S	CDH20_ENST00000538374.1_Silent_p.S794S|CDH20_ENST00000536675.2_Silent_p.S794S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	794					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACGGGGCGTCGGAGGGACCCG	0.692																																							uc010dps.1		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(2380-2382)TCG>TCT		cadherin 20, type 2 preproprotein							5.0	6.0	5.0					18																	59221904		2009	3997	6006	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221904G>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2382G>T	18.37:g.59221904G>T						CDH20_uc002lif.2_Silent_p.S788S	p.S794S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			11	2394	+		Colorectal(73;0.186)	794			Cytoplasmic (Potential).		Q495S3	Silent	SNP	ENST00000262717.4	37	c.2382G>T	CCDS11977.1																																																																																				0.692	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		5	0	1	0	0.000602214	0.000602	0.000632636	5	0				
PIGN	23556	broad.mit.edu	37	18	59821857	59821857	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:59821857T>C	ENST00000357637.5	-	7	885	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	PIGN_ENST00000400334.3_Missense_Mutation_p.Y157C	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	157					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATCATAACTATATGTATAAAC	0.313																																							uc002lii.3		NA																	0		p.Y157Y(1)		breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(469-471)TAT>TGT		phosphatidylinositol glycan anchor biosynthesis,							132.0	125.0	127.0					18																	59821857		1822	4082	5904	SO:0001583	missense	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59821857T>C	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.470A>G	18.37:g.59821857T>C	ENSP00000350263:p.Tyr157Cys					PIGN_uc002lij.3_Missense_Mutation_p.Y157C	p.Y157C	NM_176787	NP_789744	O95427	PIGN_HUMAN			7	918	-		Colorectal(73;0.187)	157			Lumenal (Potential).		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	c.470A>G	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	T	9.209	1.030518	0.19512	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.72615	-0.67;-0.67	5.79	5.79	0.91817	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.717059	0.14081	N	0.342706	T	0.59197	0.2176	L	0.28504	0.86	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.17722	0.019;0.002	T	0.46190	-0.9209	9	.	.	.	2.6841	11.8534	0.52423	0.1383:0.0:0.0:0.8617	.	157;157	B2RCI8;O95427	.;PIGN_HUMAN	C	157	ENSP00000350263:Y157C;ENSP00000383188:Y157C	.	Y	-	2	0	PIGN	57972837	0.025000	0.19082	0.003000	0.11579	0.690000	0.40134	2.295000	0.43576	2.207000	0.71202	0.496000	0.49642	TAT		0.313	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		63	26	0	0	0	0.00361	0	63	26				
SERPINB4	6318	broad.mit.edu	37	18	61306936	61306936	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:61306936A>T	ENST00000341074.5	-	6	659	c.544T>A	c.(544-546)Ttc>Atc	p.F182I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F182I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	182					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCCCTTTGAAATAGATTGCG	0.313																																							uc002ljf.2		NA																	0				ovary(2)|lung(1)	3						c.(544-546)TTC>ATC		serine (or cysteine) proteinase inhibitor, clade							84.0	85.0	85.0					18																	61306936		2202	4299	6501	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61306936A>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.544T>A	18.37:g.61306936A>T	ENSP00000343445:p.Phe182Ile					SERPINB4_uc002lje.2_Missense_Mutation_p.F182I|SERPINB4_uc002ljg.2_Intron	p.F182I	NM_002974	NP_002965	P48594	SPB4_HUMAN			6	630	-			182					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.544T>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273637	0.59649	.	.	ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264	D;D;D	0.92446	-3.04;-3.04;-3.04	4.27	4.27	0.50696	Serpin domain (3);	0.000000	0.41396	D	0.000898	D	0.97623	0.9221	H	0.98849	4.35	0.42507	D	0.992955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.98630	1.0671	10	0.87932	D	0	.	12.7713	0.57423	1.0:0.0:0.0:0.0	.	182;182	P48594;Q9BYF7	SPB4_HUMAN;.	I	182;182;139	ENSP00000343445:F182I;ENSP00000348795:F182I;ENSP00000399796:F139I	ENSP00000343445:F182I	F	-	1	0	SERPINB4	59457916	1.000000	0.71417	0.997000	0.53966	0.049000	0.14656	8.907000	0.92634	1.797000	0.52628	0.491000	0.48974	TTC		0.313	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		23	3	0	0	0	0.003954	0	23	3				
SERPINB7	8710	broad.mit.edu	37	18	61465858	61465858	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:61465858G>T	ENST00000398019.2	+	6	800	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C	SERPINB7_ENST00000336429.2_Missense_Mutation_p.G159C|SERPINB7_ENST00000540675.1_Missense_Mutation_p.G142C|SERPINB7_ENST00000546027.1_Missense_Mutation_p.G159C	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	159					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAACGTGATTGGTGAAGGTGG	0.338																																							uc002ljl.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(475-477)GGT>TGT		serine (or cysteine) proteinase inhibitor, clade							151.0	128.0	136.0					18																	61465858		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61465858G>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.475G>T	18.37:g.61465858G>T	ENSP00000381101:p.Gly159Cys					SERPINB7_uc002ljm.2_Missense_Mutation_p.G159C|SERPINB7_uc010xet.1_Missense_Mutation_p.G142C|SERPINB7_uc010dqg.2_Missense_Mutation_p.G159C	p.G159C	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			6	571	+		Esophageal squamous(42;0.129)	159					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.475G>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336615	0.41398	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.68	-2.27	0.06846	Serpin domain (3);	3.707100	0.00357	N	0.000030	D	0.88028	0.6327	M	0.77616	2.38	0.09310	N	1	P;P	0.46142	0.846;0.873	P;P	0.50754	0.517;0.649	T	0.73849	-0.3853	10	0.87932	D	0	.	4.2439	0.10662	0.3318:0.2481:0.3486:0.0715	.	142;159	F5GZC0;O75635	.;SPB7_HUMAN	C	159;159;142;159;159	ENSP00000337212:G159C;ENSP00000381101:G159C;ENSP00000444572:G142C;ENSP00000402362:G159C;ENSP00000444861:G159C	ENSP00000337212:G159C	G	+	1	0	SERPINB7	59616838	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.183000	0.03079	-0.723000	0.04915	-0.355000	0.07637	GGT		0.338	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		24	8	1	0	4.47668e-21	0.003954	6.73766e-21	24	8				
SERPINB2	5055	broad.mit.edu	37	18	61569721	61569721	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:61569721A>T	ENST00000299502.4	+	7	842	c.762A>T	c.(760-762)ctA>ctT	p.L254L	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Silent_p.L254L	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	254					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CTCAGATTCTAGAACTCCCAT	0.413																																							uc010xeu.1		NA																	0				lung(1)|skin(1)	2						c.(760-762)CTA>CTT		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						146.0	130.0	135.0					18																	61569721		2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569721A>T	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.762A>T	18.37:g.61569721A>T						SERPINB2_uc002ljo.2_Silent_p.L254L|SERPINB2_uc010dqh.2_Silent_p.L184L|SERPINB2_uc002ljp.1_Silent_p.L59L|SERPINB2_uc002ljq.1_Silent_p.L59L	p.L254L	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			8	1095	+		Esophageal squamous(42;0.131)	254					Q96E96	Silent	SNP	ENST00000299502.4	37	c.762A>T	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.508944	0.27036	.	.	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.27	-3.19	0.05171	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5139	0.16896	0.218:0.0:0.3803:0.4017	.	.	.	.	X	131	.	.	R	+	1	2	SERPINB10	59720701	0.903000	0.30736	0.995000	0.50966	0.984000	0.73092	-0.011000	0.12721	-0.149000	0.11215	0.455000	0.32223	AGA		0.413	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		40	6	0	0	0	0.006999	0	40	6				
ATP9B	374868	broad.mit.edu	37	18	77108132	77108132	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:77108132G>T	ENST00000426216.2	+	25	2856	c.2839G>T	c.(2839-2841)Gct>Tct	p.A947S	ATP9B_ENST00000543761.1_Splice_Site_p.A268S|ATP9B_ENST00000307671.7_Splice_Site_p.A947S	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	947					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTCTCTCCAGGCTGTGTTTTC	0.567																																							uc002lmx.2		NA																	0				ovary(3)	3						c.(2839-2841)GCT>TCT		ATPase, class II, type 9B							228.0	191.0	204.0					18																	77108132		2203	4300	6503	SO:0001630	splice_region_variant	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77108132G>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2839-1G>T	18.37:g.77108132G>T						ATP9B_uc002lmw.1_Missense_Mutation_p.A947S|ATP9B_uc002lmz.1_Missense_Mutation_p.A641S|ATP9B_uc002lna.2_Intron|ATP9B_uc002lnb.1_Intron|ATP9B_uc010drb.2_RNA	p.A947S	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	25	2853	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	947			Helical; (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.2839G>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.629942	0.67015	.	.	ENSG00000166377	ENST00000426216;ENST00000359184;ENST00000307671;ENST00000543761	T;T;T	0.70516	-0.49;-0.49;-0.49	4.8	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.86314	0.5903	M	0.92970	3.365	0.80722	D	1	P;D;D	0.76494	0.95;0.998;0.999	P;D;D	0.72075	0.743;0.947;0.976	D	0.88908	0.3357	9	.	.	.	.	12.4999	0.55950	0.0811:0.0:0.9189:0.0	.	268;947;947	F5H8J1;O43861;O43861-2	.;ATP9B_HUMAN;.	S	947;3;947;268	ENSP00000398076:A947S;ENSP00000304500:A947S;ENSP00000442015:A268S	.	A	+	1	0	ATP9B	75209120	1.000000	0.71417	0.874000	0.34290	0.476000	0.33039	8.081000	0.89511	1.148000	0.42385	0.655000	0.94253	GCT		0.567	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	Missense_Mutation	59	21	1	0	1.87469e-40	0.00361	3.32019e-40	59	21				
MED16	10025	broad.mit.edu	37	19	877041	877041	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:877041C>A	ENST00000589119.1	-	8	1492	c.1493G>T	c.(1492-1494)aGt>aTt	p.S498I	MED16_ENST00000325464.1_Missense_Mutation_p.S498I|MED16_ENST00000312090.6_Missense_Mutation_p.S498I|MED16_ENST00000269814.4_Missense_Mutation_p.S498I|MED16_ENST00000395808.3_Missense_Mutation_p.S498I|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	498					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTACCATACTGGGCTGCAC	0.677																																							uc002lqd.1		NA																	0					0						c.(1492-1494)AGT>ATT		mediator complex subunit 16							55.0	46.0	49.0					19																	877041		2197	4293	6490	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:877041C>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1493G>T	19.37:g.877041C>A	ENSP00000464810:p.Ser498Ile					MED16_uc010drw.1_Missense_Mutation_p.S323I|MED16_uc002lqe.2_Missense_Mutation_p.S487I|MED16_uc002lqf.2_Missense_Mutation_p.S487I|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.S343I|MED16_uc010xfy.1_Intron	p.S498I	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1644	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	498					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1493G>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	c	12.61	1.989913	0.35131	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.03	-4.77	0.03219	.	0.818346	0.11425	N	0.565360	T	0.27900	0.0687	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.22909	0.018;0.062;0.018;0.077	B;B;B;B	0.30495	0.031;0.071;0.031;0.116	T	0.37150	-0.9718	10	0.48119	T	0.1	-0.5042	6.7323	0.23390	0.0:0.4053:0.3332:0.2615	.	498;498;498;498	Q9Y2X0-2;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	I	498;498;498;498;354;259;257;216;498	ENSP00000325612:S498I;ENSP00000308528:S498I;ENSP00000379153:S498I;ENSP00000269814:S498I	ENSP00000269814:S498I	S	-	2	0	MED16	828041	0.000000	0.05858	0.635000	0.29338	0.954000	0.61252	-0.822000	0.04448	-0.485000	0.06754	-0.312000	0.09012	AGT		0.677	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		43	9	1	0	4.01765e-15	0.009718	5.40344e-15	43	9				
TLE2	7089	broad.mit.edu	37	19	3009671	3009671	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:3009671G>A	ENST00000262953.6	-	13	1304	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.P226S|TLE2_ENST00000426948.2_Missense_Mutation_p.P362S|TLE2_ENST00000590536.1_Missense_Mutation_p.P349S|TLE2_ENST00000591529.1_Missense_Mutation_p.P362S|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.P226S	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	348	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGAAGGGACTGGACAGA	0.652																																							uc002lww.2		NA																	0					0						c.(1042-1044)CCC>TCC		transducin-like enhancer protein 2 isoform 1							39.0	50.0	46.0					19																	3009671		2030	4178	6208	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3009671G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1042C>T	19.37:g.3009671G>A	ENSP00000262953:p.Pro348Ser					TLE2_uc010xhb.1_Intron|TLE2_uc010dth.2_Missense_Mutation_p.P349S|TLE2_uc010xhc.1_Missense_Mutation_p.P226S|TLE2_uc010dti.2_Missense_Mutation_p.P362S|TLE2_uc010xhd.1_Missense_Mutation_p.P256S	p.P348S	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1305	-			348			Pro/Ser-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.1042C>T	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	g	10.35	1.326184	0.24080	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T	0.53206	0.69;0.63;0.63;0.92	4.05	4.05	0.47172	.	0.221701	0.33631	N	0.004714	T	0.36580	0.0972	L	0.33485	1.01	0.39502	D	0.968219	B;B;B;B;B	0.22683	0.073;0.01;0.009;0.01;0.01	B;B;B;B;B	0.20767	0.031;0.003;0.013;0.009;0.009	T	0.25293	-1.0136	10	0.33940	T	0.23	-7.4502	13.4561	0.61199	0.0:0.0:1.0:0.0	.	256;226;362;226;348	B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	S	348;226;342;226;362;256	ENSP00000262953:P348S;ENSP00000413107:P226S;ENSP00000392427:P226S;ENSP00000392869:P362S	ENSP00000262953:P348S	P	-	1	0	TLE2	2960671	0.843000	0.29541	0.992000	0.48379	0.953000	0.61014	0.321000	0.19558	2.263000	0.75096	0.643000	0.83706	CCC		0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		18	0	0	0	0	0.007413	0	18	0				
FUT6	2528	broad.mit.edu	37	19	5832203	5832203	+	Missense_Mutation	SNP	G	G	A	rs111589452	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:5832203G>A	ENST00000318336.4	-	3	1570	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FUT6_ENST00000524754.1_Missense_Mutation_p.R126W|FUT6_ENST00000592563.1_Missense_Mutation_p.R126W|FUT6_ENST00000286955.5_Missense_Mutation_p.R126W|FUT6_ENST00000527106.1_Missense_Mutation_p.R126W	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	126					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.R126W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCCCCTGCCGCCTCGGGGAG	0.617																																							uc002mdf.1		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(376-378)CGG>TGG		fucosyltransferase 6							70.0	58.0	62.0					19																	5832203		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832203G>A		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.376C>T	19.37:g.5832203G>A	ENSP00000313398:p.Arg126Trp					FUT6_uc002mdg.1_Missense_Mutation_p.R126W|FUT6_uc002mdh.1_Missense_Mutation_p.R126W|FUT6_uc010dul.1_Missense_Mutation_p.R126W	p.R126W	NM_001040701	NP_001035791	P51993	FUT6_HUMAN			4	902	-			126			Lumenal (Potential).		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.376C>T	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937106	0.73557	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	3.09	3.09	0.35607	.	0.333138	0.24740	N	0.035984	T	0.25865	0.0630	L	0.42245	1.32	0.30040	N	0.812724	P;P	0.50272	0.933;0.844	P;P	0.45167	0.472;0.472	T	0.20371	-1.0277	10	0.87932	D	0	.	12.3817	0.55311	0.0:0.0:1.0:0.0	.	126;126	C9J8A2;P51993	.;FUT6_HUMAN	W	126	ENSP00000431708:R126W;ENSP00000432954:R126W;ENSP00000313398:R126W;ENSP00000286955:R126W;ENSP00000436547:R126W	ENSP00000286955:R126W	R	-	1	2	FUT6	5783203	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	6.454000	0.73493	1.666000	0.50821	0.436000	0.28706	CGG		0.617	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		51	5	0	0	0	0.00361	0	51	5				
C3	718	broad.mit.edu	37	19	6686289	6686289	+	Missense_Mutation	SNP	C	C	A	rs369542526		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:6686289C>A	ENST00000245907.6	-	29	3748	c.3656G>T	c.(3655-3657)cGc>cTc	p.R1219L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1219					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTCCTCCCAGCGGTTCTTATC	0.542																																							uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3655-3657)CGC>CTC		complement component 3 precursor							167.0	151.0	156.0					19																	6686289		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6686289C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3656G>T	19.37:g.6686289C>A	ENSP00000245907:p.Arg1219Leu					C3_uc002mfl.2_5'UTR	p.R1219L	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	29	3718	-			1219					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3656G>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696554	0.68386	.	.	ENSG00000125730	ENST00000245907	T	0.30182	1.54	5.85	2.62	0.31277	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.161069	0.56097	D	0.000025	T	0.36220	0.0959	M	0.62154	1.92	0.28357	N	0.920627	D	0.56746	0.977	P	0.51582	0.674	T	0.16100	-1.0414	10	0.33940	T	0.23	.	8.2724	0.31853	0.0:0.6952:0.0:0.3048	.	1219	P01024	CO3_HUMAN	L	1219	ENSP00000245907:R1219L	ENSP00000245907:R1219L	R	-	2	0	C3	6637289	0.993000	0.37304	1.000000	0.80357	0.913000	0.54294	0.304000	0.19228	0.826000	0.34661	0.561000	0.74099	CGC		0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		36	83	1	0	8.73648e-17	0.004289	1.21034e-16	36	83				
INSR	3643	broad.mit.edu	37	19	7166355	7166355	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:7166355C>A	ENST00000302850.5	-	8	1813	c.1671G>T	c.(1669-1671)acG>acT	p.T557T	INSR_ENST00000341500.5_Silent_p.T557T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	557					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGTCTACCACCGTCCAACTGT	0.552																																							uc002mgd.1		NA																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(1669-1671)ACG>ACT		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						110.0	86.0	94.0					19																	7166355		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7166355C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1671G>T	19.37:g.7166355C>A						INSR_uc002mge.1_Silent_p.T557T|INSR_uc002mgf.2_Silent_p.T557T	p.T557T	NM_000208	NP_000199	P06213	INSR_HUMAN			8	1780	-			557					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.1671G>T	CCDS12176.1																																																																																				0.552	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			35	3	1	0	1.21669e-08	0.003271	1.43919e-08	35	3				
ZNF358	140467	broad.mit.edu	37	19	7584982	7584982	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:7584982A>T	ENST00000597229.1	+	2	1024	c.854A>T	c.(853-855)cAc>cTc	p.H285L	ZNF358_ENST00000394341.2_Missense_Mutation_p.H285L|MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	285					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTGCGCACGCACACGGGCGAG	0.741																																							uc002mgn.2		NA																	0				central_nervous_system(1)	1						c.(853-855)CAC>CTC		zinc finger protein 358							9.0	11.0	10.0					19																	7584982		2162	4222	6384	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584982A>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.854A>T	19.37:g.7584982A>T	ENSP00000472305:p.His285Leu					MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	p.H285L	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			2	1024	+			285			C2H2-type 5.		Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.854A>T	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.151789	0.78001	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.67345	-0.26	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86814	0.6023	H	0.96576	3.845	0.45284	D	0.998288	D	0.89917	1.0	D	0.91635	0.999	D	0.90439	0.4430	9	0.87932	D	0	-22.8232	12.1916	0.54275	1.0:0.0:0.0:0.0	.	285	Q9NW07	ZN358_HUMAN	L	285	ENSP00000377873:H285L	ENSP00000354703:H285L	H	+	2	0	ZNF358	7490982	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.189000	0.94928	1.837000	0.53436	0.379000	0.24179	CAC		0.741	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			6	9	0	0	0	0.001984	0	6	9				
OR2Z1	284383	broad.mit.edu	37	19	8841989	8841989	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:8841989C>A	ENST00000324060.2	+	1	674	c.599C>A	c.(598-600)tCc>tAc	p.S200Y		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S200C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGCGCTGTCCACCTCAGGG	0.582											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																											uc010xkg.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)|skin(1)	2						c.(598-600)TCC>TAC		olfactory receptor, family 2, subfamily Z,							138.0	119.0	125.0					19																	8841989		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841989C>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.599C>A	19.37:g.8841989C>A	ENSP00000316284:p.Ser200Tyr		OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	652		p.S200Y	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	599	+			200			Helical; Name=5; (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.599C>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	C	0.162	-1.080469	0.01888	.	.	ENSG00000181733	ENST00000324060	T	0.00054	8.8	4.67	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.518928	0.19332	N	0.116862	T	0.00109	0.0003	N	0.04768	-0.165	0.09310	N	0.999994	P	0.47253	0.892	P	0.57620	0.824	T	0.53019	-0.8497	10	0.02654	T	1	.	3.6261	0.08113	0.2388:0.6092:0.0:0.152	.	200	Q8NG97	OR2Z1_HUMAN	Y	200	ENSP00000316284:S200Y	ENSP00000316284:S200Y	S	+	2	0	OR2Z1	8702989	0.008000	0.16893	0.977000	0.42913	0.303000	0.27691	1.590000	0.36654	2.356000	0.79943	0.543000	0.68304	TCC		0.582	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			89	11	1	0	2.00703e-41	0.00361	3.56109e-41	89	11				
OR2Z1	284383	broad.mit.edu	37	19	8842092	8842092	+	Silent	SNP	A	A	G	rs199597814		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:8842092A>G	ENST00000324060.2	+	1	777	c.702A>G	c.(700-702)agA>agG	p.R234R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGAGGCCAGACACAAGGCTG	0.587																																							uc010xkg.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(700-702)AGA>AGG		olfactory receptor, family 2, subfamily Z,							125.0	99.0	108.0					19																	8842092		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842092A>G	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.702A>G	19.37:g.8842092A>G							p.R234R	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	702	+			234			Cytoplasmic (Potential).		B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.702A>G	CCDS32895.1																																																																																				0.587	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			49	10	0	0	0	0.00361	0	49	10				
MUC16	94025	broad.mit.edu	37	19	9060014	9060014	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9060014G>T	ENST00000397910.4	-	3	27635	c.27432C>A	c.(27430-27432)gcC>gcA	p.A9144A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9146	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						GTGAGAAAGAGGCAGAGCTGG	0.493																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27430-27432)GCC>GCA		mucin 16							75.0	72.0	73.0					19																	9060014		2038	4191	6229	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060014G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27432C>A	19.37:g.9060014G>T							p.A9144A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27636	-			9146			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27432C>A	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	7	1	0	5.3912e-06	0.006122	5.93431e-06	19	7				
MUC16	94025	broad.mit.edu	37	19	9067730	9067730	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9067730C>T	ENST00000397910.4	-	3	19919	c.19716G>A	c.(19714-19716)aaG>aaA	p.K6572K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6574	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						TAGTCGGTATCTTATGTGAGG	0.453																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19714-19716)AAG>AAA		mucin 16							129.0	114.0	119.0					19																	9067730		1891	4125	6016	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067730C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19716G>A	19.37:g.9067730C>T							p.K6572K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19920	-			6574			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.19716G>A	CCDS54212.1																																																																																				0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		56	14	0	0	0	0.00361	0	56	14				
MUC16	94025	broad.mit.edu	37	19	9088057	9088057	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9088057A>T	ENST00000397910.4	-	1	3961	c.3758T>A	c.(3757-3759)cTc>cAc	p.L1253H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1253	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						GTGTGCTCCGAGGTGGATGCT	0.507																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3757-3759)CTC>CAC		mucin 16							422.0	417.0	418.0					19																	9088057		2131	4246	6377	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088057A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3758T>A	19.37:g.9088057A>T	ENSP00000381008:p.Leu1253His						p.L1253H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3962	-			1253			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3758T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.548	-0.539919	0.04053	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	1.38	-1.15	0.09709	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	.	.	.	D	0.65815	0.995	P	0.55965	0.788	T	0.39722	-0.9600	8	0.87932	D	0	.	2.1835	0.03880	0.4412:0.3255:0.2333:0.0	.	1253	B5ME49	.	H	1253	ENSP00000381008:L1253H	ENSP00000381008:L1253H	L	-	2	0	MUC16	8949057	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.208000	0.03005	-0.441000	0.07201	0.254000	0.18369	CTC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		354	78	0	0	0	0.00361	0	354	78				
OR7D4	125958	broad.mit.edu	37	19	9325053	9325053	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9325053C>A	ENST00000308682.2	-	1	489	c.461G>T	c.(460-462)tGg>tTg	p.W154L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CAGGGAGAACCAGAAAATGAT	0.527																																							uc002mla.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(460-462)TGG>TTG		olfactory receptor, family 7, subfamily D,							74.0	72.0	73.0					19																	9325053		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325053C>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.461G>T	19.37:g.9325053C>A	ENSP00000310488:p.Trp154Leu						p.W154L	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	461	-			154			Helical; Name=4; (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.461G>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	0.423	-0.907089	0.02434	.	.	ENSG00000174667	ENST00000308682	T	0.27402	1.67	4.0	-4.82	0.03171	GPCR, rhodopsin-like superfamily (1);	1.271830	0.05593	N	0.574978	T	0.03608	0.0103	N	0.00030	-2.61	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.42732	-0.9434	10	0.02654	T	1	.	5.0376	0.14443	0.5588:0.256:0.1053:0.0799	.	154	Q8NG98	OR7D4_HUMAN	L	154	ENSP00000310488:W154L	ENSP00000310488:W154L	W	-	2	0	OR7D4	9186053	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-1.050000	0.03510	-0.449000	0.07117	0.436000	0.28706	TGG		0.527	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			50	11	1	0	2.24722e-20	0.00361	3.3406e-20	50	11				
DNMT1	1786	broad.mit.edu	37	19	10254444	10254444	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:10254444G>A	ENST00000340748.4	-	28	3301	c.3066C>T	c.(3064-3066)taC>taT	p.Y1022Y	DNMT1_ENST00000540357.1_Silent_p.Y1022Y|DNMT1_ENST00000359526.4_Silent_p.Y1038Y|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1022	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTGCTGACCTGTAGAACTTGT	0.512																																							uc002mng.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3064-3066)TAC>TAT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						205.0	203.0	204.0					19																	10254444		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10254444G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3066C>T	19.37:g.10254444G>A						DNMT1_uc002mnf.2_5'UTR|DNMT1_uc010xlc.1_Silent_p.Y1038Y|DNMT1_uc002mnh.2_Silent_p.Y917Y|DNMT1_uc010xld.1_Silent_p.Y1022Y	p.Y1022Y	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		28	3246	-			1022			BAH 2.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.3066C>T	CCDS12228.1																																																																																				0.512	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		157	281	0	0	0	0.00361	0	157	281				
FARSA	2193	broad.mit.edu	37	19	13039359	13039359	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:13039359G>A	ENST00000314606.4	-	6	733	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	FARSA_ENST00000588025.1_Silent_p.L279L|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Silent_p.L208L	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	239					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCCATCTCCAGGAAGATCTGT	0.642																																							uc002mvs.2		NA																	0				ovary(1)	1						c.(715-717)CTG>TTG		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						44.0	43.0	43.0					19																	13039359		2203	4300	6503	SO:0001819	synonymous_variant	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039359G>A	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.715C>T	19.37:g.13039359G>A						FARSA_uc002mvt.2_Intron|FARSA_uc010xmv.1_Silent_p.L208L|FARSA_uc010dyy.1_Silent_p.L160L	p.L239L	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			6	763	-			239					B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	c.715C>T	CCDS12287.1																																																																																				0.642	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		14	5	0	0	0	0.00245	0	14	5				
CACNA1A	773	broad.mit.edu	37	19	13323474	13323474	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:13323474G>T	ENST00000360228.5	-	41	6020	c.6021C>A	c.(6019-6021)ccC>ccA	p.P2007P	CACNA1A_ENST00000573710.2_Silent_p.P2008P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2008					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGGGTGGAGGGGAGGGCGT	0.682																																							uc010dze.2		NA																	0				large_intestine(2)	2						c.(6022-6024)CCC>CCA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						12.0	14.0	13.0					19																	13323474		2013	4138	6151	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13323474G>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6021C>A	19.37:g.13323474G>T						CACNA1A_uc010xnd.1_Silent_p.P713P|CACNA1A_uc002mwx.3_Silent_p.P713P|CACNA1A_uc010dzc.2_Silent_p.P1533P|CACNA1A_uc002mwy.3_Silent_p.P2007P|CACNA1A_uc002mwv.3_Silent_p.P524P	p.P2008P	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		41	6260	-			2008			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.6024C>A	CCDS45998.1																																																																																				0.682	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		6	2	1	0	8.12818e-05	0.001984	8.70909e-05	6	2				
ZSWIM4	65249	broad.mit.edu	37	19	13919735	13919735	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:13919735G>A	ENST00000254323.2	+	4	987	c.798G>A	c.(796-798)aaG>aaA	p.K266K	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	266							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGCAGGTGAAGCAGCTACTGT	0.697																																							uc002mxh.1		NA																	0				central_nervous_system(2)	2						c.(796-798)AAG>AAA		zinc finger, SWIM-type containing 4							22.0	21.0	22.0					19																	13919735		2197	4293	6490	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13919735G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.798G>A	19.37:g.13919735G>A						ZSWIM4_uc010xng.1_Silent_p.K72K	p.K266K	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		4	987	+			266						Silent	SNP	ENST00000254323.2	37	c.798G>A	CCDS32924.1																																																																																				0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		4	10	0	0	0	0.009096	0	4	10				
CLEC17A	388512	broad.mit.edu	37	19	14710863	14710863	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:14710863C>A	ENST00000417570.1	+	12	801	c.763C>A	c.(763-765)Cct>Act	p.P255T	CLEC17A_ENST00000397439.2_Missense_Mutation_p.P238T|CLEC17A_ENST00000547437.1_Missense_Mutation_p.P255T	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	255						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										AATTACCTGTCCTGAAGGCTG	0.537																																							uc010dzn.1		NA																	0					0						c.(763-765)CCT>ACT		SubName: Full=CLEC17A protein;							59.0	57.0	57.0					19																	14710863		1965	4159	6124	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14710863C>A	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.763C>A	19.37:g.14710863C>A	ENSP00000393719:p.Pro255Thr					CLEC17A_uc002mzh.1_Missense_Mutation_p.P238T|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Intron|CLEC17A_uc010dzo.1_Missense_Mutation_p.P255T	p.P255T			Q6ZS10	CL17A_HUMAN			12	840	+			255			Extracellular (Potential).		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.763C>A	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658989	0.47467	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.27104	1.69;1.69;1.69	4.67	4.67	0.58626	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.38326	N	0.001725	T	0.51295	0.1666	M	0.75447	2.3	0.32003	N	0.603073	D;D	0.89917	0.99;1.0	D;D	0.83275	0.972;0.996	T	0.63844	-0.6545	10	0.87932	D	0	-38.5209	15.0499	0.71858	0.0:1.0:0.0:0.0	.	255;255	Q6ZS10-3;Q6ZS10	.;CL17A_HUMAN	T	255;238;255	ENSP00000450065:P255T;ENSP00000380581:P238T;ENSP00000393719:P255T	ENSP00000380581:P238T	P	+	1	0	CLEC17A	14571863	0.996000	0.38824	0.951000	0.38953	0.176000	0.22953	2.085000	0.41634	2.137000	0.66172	0.561000	0.74099	CCT		0.537	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		33	12	1	0	4.34311e-12	0.003271	5.48991e-12	33	12				
SYDE1	85360	broad.mit.edu	37	19	15220176	15220176	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:15220176G>C	ENST00000342784.2	+	2	429	c.398G>C	c.(397-399)gGc>gCc	p.G133A	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Missense_Mutation_p.G66A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	133	Pro-rich.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCACAGCCTGGCTCAGCTGAG	0.647																																							uc002nah.1		NA																	0				ovary(1)|pancreas(1)	2						c.(397-399)GGC>GCC		synapse defective 1, Rho GTPase, homolog 1							21.0	25.0	24.0					19																	15220176		2201	4296	6497	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15220176G>C	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.398G>C	19.37:g.15220176G>C	ENSP00000341489:p.Gly133Ala					SYDE1_uc002nai.1_Missense_Mutation_p.G66A|SYDE1_uc002naj.1_5'UTR	p.G133A	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN			2	429	+			133			Pro-rich.		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.398G>C	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	5.718	0.316980	0.10845	.	.	ENSG00000105137	ENST00000342784	T	0.12984	2.63	4.32	-2.6	0.06190	.	1.022310	0.07840	N	0.962768	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.39722	-0.9600	10	0.02654	T	1	.	3.6782	0.08299	0.0849:0.4018:0.255:0.2583	.	66;133	Q6ZW31-2;Q6ZW31	.;SYDE1_HUMAN	A	133	ENSP00000341489:G133A	ENSP00000341489:G133A	G	+	2	0	SYDE1	15081176	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.228000	0.09114	-0.719000	0.04942	-1.896000	0.00531	GGC		0.647	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		12	16	0	0	0	0.00245	0	12	16				
CYP4F22	126410	broad.mit.edu	37	19	15636206	15636206	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:15636206G>C	ENST00000269703.3	+	3	258	c.59G>C	c.(58-60)cGc>cCc	p.R20P	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R20P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	20						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ACGGCGTTCCGCATATACGCG	0.622																																							uc002nbh.3		NA																	0				ovary(1)|pancreas(1)	2						c.(58-60)CGC>CCC		cytochrome P450, family 4, subfamily F,							141.0	94.0	110.0					19																	15636206		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15636206G>C		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.59G>C	19.37:g.15636206G>C	ENSP00000269703:p.Arg20Pro						p.R20P	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			3	226	+			20					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.59G>C	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025298	0.35701	.	.	ENSG00000171954	ENST00000269703	D	0.91894	-2.93	4.69	3.64	0.41730	.	0.066255	0.64402	D	0.000010	D	0.85932	0.5812	N	0.08118	0	0.36195	D	0.850323	D	0.59767	0.986	P	0.52066	0.689	D	0.85350	0.1101	10	0.22706	T	0.39	.	11.1375	0.48383	0.0:0.1871:0.8129:0.0	.	20	Q6NT55	CP4FN_HUMAN	P	20	ENSP00000269703:R20P	ENSP00000269703:R20P	R	+	2	0	CYP4F22	15497206	1.000000	0.71417	0.678000	0.29963	0.029000	0.11900	5.174000	0.65015	1.063000	0.40649	0.655000	0.94253	CGC		0.622	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		12	26	0	0	0	0.001368	0	12	26				
CYP4F2	8529	broad.mit.edu	37	19	15996831	15996831	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:15996831C>G	ENST00000221700.6	-	9	1113	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L	CYP4F2_ENST00000011989.7_Silent_p.G168G	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGTACAGGACCCAGGAGAGA	0.597																																							uc002nbs.1		NA																	0				ovary(1)|skin(1)	2						c.(1018-1020)GTC>CTC		cytochrome P450, family 4, subfamily F,							82.0	74.0	76.0					19																	15996831		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15996831C>G	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1018G>C	19.37:g.15996831C>G	ENSP00000221700:p.Val340Leu					CYP4F2_uc010xot.1_Missense_Mutation_p.V191L|CYP4F2_uc010xou.1_Silent_p.G168G	p.V340L	NM_001082	NP_001073	P78329	CP4F2_HUMAN			9	1068	-			340						Missense_Mutation	SNP	ENST00000221700.6	37	c.1018G>C	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.618178	0.28801	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.68331	-0.32	2.63	-2.79	0.05841	.	0.492896	0.16807	U	0.198740	T	0.47340	0.1440	L	0.28740	0.885	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.05818	-1.0862	10	0.30854	T	0.27	.	7.8706	0.29563	0.0:0.307:0.0:0.693	.	340	P78329	CP4F2_HUMAN	L	340;191	ENSP00000221700:V340L	ENSP00000221700:V340L	V	-	1	0	CYP4F2	15857831	0.964000	0.33143	0.961000	0.40146	0.606000	0.37113	0.403000	0.20982	-0.768000	0.04626	0.313000	0.20887	GTC		0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		13	66	0	0	0	0.003163	0	13	66				
UPF1	5976	broad.mit.edu	37	19	18965953	18965953	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:18965953G>T	ENST00000599848.1	+	11	1688	c.1479G>T	c.(1477-1479)gtG>gtT	p.V493V	UPF1_ENST00000262803.5_Silent_p.V482V			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	493					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGAAGACTGTGCTGCAAAGAC	0.672																																							uc002nkg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1477-1479)GTG>GTT		regulator of nonsense transcripts 1							62.0	62.0	62.0					19																	18965953		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18965953G>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1479G>T	19.37:g.18965953G>T						UPF1_uc002nkf.2_Silent_p.V482V	p.V493V	NM_002911	NP_002902	Q92900	RENT1_HUMAN			11	1754	+			493					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.1479G>T																																																																																					0.672	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		32	11	1	0	6.00712e-18	0.002445	8.55506e-18	32	11				
ZNF90	7643	broad.mit.edu	37	19	20229559	20229559	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:20229559G>A	ENST00000418063.2	+	4	1308	c.1196G>A	c.(1195-1197)tGt>tAt	p.C399Y	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	399					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCCTACAAATGTGAAGAATGT	0.358																																							uc002nor.2		NA																	0				ovary(1)|skin(1)	2						c.(1195-1197)TGT>TAT		zinc finger protein 90							47.0	45.0	46.0					19																	20229559		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229559G>A	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1196G>A	19.37:g.20229559G>A	ENSP00000410466:p.Cys399Tyr					ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron	p.C399Y	NM_007138	NP_009069	Q03938	ZNF90_HUMAN			4	1335	+			399			C2H2-type 9.		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.1196G>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112844	0.37242	.	.	ENSG00000213988	ENST00000418063	D	0.85088	-1.94	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93575	0.7949	H	0.96080	3.765	0.25500	N	0.987565	D	0.89917	1.0	D	0.91635	0.999	D	0.84111	0.0401	8	.	.	.	.	7.4811	0.27406	0.0:0.0:1.0:0.0	.	399	Q03938	ZNF90_HUMAN	Y	399	ENSP00000410466:C399Y	.	C	+	2	0	ZNF90	20090559	0.998000	0.40836	0.053000	0.19242	0.052000	0.14988	4.535000	0.60629	0.293000	0.22520	0.298000	0.19748	TGT		0.358	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		3	8	0	0	0	0.004672	0	3	8				
ZNF431	170959	broad.mit.edu	37	19	21365467	21365467	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:21365467G>T	ENST00000311048.7	+	5	505	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZNF431_ENST00000600692.1_Missense_Mutation_p.R128I|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	121					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGAGCAAGACATAAAAGA	0.323																																							uc002npp.2		NA																	0				central_nervous_system(2)	2						c.(361-363)GAC>TAC		zinc finger protein 431							60.0	62.0	61.0					19																	21365467		2203	4300	6503	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365467G>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.361G>T	19.37:g.21365467G>T	ENSP00000308578:p.Asp121Tyr					ZNF431_uc010ecq.2_Missense_Mutation_p.D30Y|ZNF431_uc010ecr.2_Missense_Mutation_p.D122Y	p.D121Y	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	508	+			121					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.361G>T	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	6.494	0.459244	0.12342	.	.	ENSG00000196705	ENST00000311048	T	0.06687	3.27	0.362	0.362	0.16113	.	.	.	.	.	T	0.09642	0.0237	M	0.66297	2.02	0.22562	N	0.998985	B	0.10296	0.003	B	0.12837	0.008	T	0.30475	-0.9977	8	0.32370	T	0.25	.	.	.	.	.	121	Q8TF32	ZN431_HUMAN	Y	121	ENSP00000308578:D121Y	ENSP00000308578:D121Y	D	+	1	0	ZNF431	21157307	0.001000	0.12720	0.090000	0.20809	0.086000	0.17979	0.256000	0.18351	0.433000	0.26313	0.436000	0.28706	GAC		0.323	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		22	3	1	0	8.04996e-18	0.001882	1.14307e-17	22	3				
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388																																							uc002nqs.1		NA																	0					0						c.(1525-1527)GAA>TAA		zinc finger protein 676							64.0	68.0	67.0					19																	22362994		2156	4276	6432	SO:0001587	stop_gained	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362994C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1525G>T	19.37:g.22362994C>A	ENSP00000380310:p.Glu509*						p.E509*	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1843	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	509			C2H2-type 13.		A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	c.1525G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466068	0.84425	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	509	.	ENSP00000380310:E509X	E	-	1	0	ZNF676	22154834	0.000000	0.05858	0.086000	0.20670	0.086000	0.17979	-0.518000	0.06267	0.181000	0.19994	0.184000	0.17185	GAA		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		13	26	1	0	1.61879e-10	0.001368	1.98651e-10	13	26				
ATP4A	495	broad.mit.edu	37	19	36051513	36051513	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:36051513G>A	ENST00000262623.3	-	6	567	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	180					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GATGACAGTGGCTTGCTGCGG	0.622																																							uc002oal.1		NA																	0				ovary(1)	1						c.(538-540)GCC>GTC		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						31.0	31.0	31.0					19																	36051513		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051513G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.539C>T	19.37:g.36051513G>A	ENSP00000262623:p.Ala180Val					ATP4A_uc010eee.1_5'Flank	p.A180V	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	568	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		180			Cytoplasmic (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.539C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	19.11	3.763241	0.69763	.	.	ENSG00000105675	ENST00000262623	D	0.90676	-2.71	3.99	3.99	0.46301	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000005	D	0.94456	0.8216	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94972	0.8118	10	0.87932	D	0	.	13.9607	0.64177	0.0:0.0:1.0:0.0	.	180	P20648	ATP4A_HUMAN	V	180	ENSP00000262623:A180V	ENSP00000262623:A180V	A	-	2	0	ATP4A	40743353	1.000000	0.71417	0.997000	0.53966	0.347000	0.29111	9.598000	0.98277	2.227000	0.72691	0.306000	0.20318	GCC		0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		21	5	0	0	0	0.002299	0	21	5				
NPHS1	4868	broad.mit.edu	37	19	36322197	36322197	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:36322197C>A	ENST00000378910.5	-	26	3387		c.e26+1		NPHS1_ENST00000353632.6_Splice_Site	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)						cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCCACTTACCGTGGAGCTC	0.612																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.e26+1		nephrin precursor							79.0	71.0	74.0					19																	36322197		2203	4300	6503	SO:0001630	splice_region_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36322197C>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3387+1G>T	19.37:g.36322197C>A						NPHS1_uc010eem.1_Splice_Site	p.T1129_splice	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		26	3387	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)							A6NDH2|C3RX61	Splice_Site	SNP	ENST00000378910.5	37	c.3387_splice	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473164	0.26423	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8667	0.63592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHS1	41014037	0.986000	0.35501	0.956000	0.39512	0.019000	0.09904	3.520000	0.53465	2.651000	0.90000	0.442000	0.29010	.		0.612	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		Intron	48	12	1	0	1.61863e-15	0.00361	2.19525e-15	48	12				
NPHS1	4868	broad.mit.edu	37	19	36338987	36338987	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:36338987A>G	ENST00000378910.5	-	11	1395	c.1396T>C	c.(1396-1398)Ttg>Ctg	p.L466L	NPHS1_ENST00000353632.6_Silent_p.L466L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	466	Ig-like C2-type 5.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGATAGCCAAACACACCAGC	0.652																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(1396-1398)TTG>CTG		nephrin precursor							41.0	50.0	47.0					19																	36338987		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36338987A>G		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1396T>C	19.37:g.36338987A>G							p.L466L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		11	1396	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		466			Extracellular (Potential).|Ig-like C2-type 5.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.1396T>C	CCDS32996.1																																																																																				0.652	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			34	12	0	0	0	0.003755	0	34	12				
RYR1	6261	broad.mit.edu	37	19	38939429	38939429	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:38939429G>A	ENST00000359596.3	+	11	1098	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	RYR1_ENST00000355481.4_Silent_p.L366L|RYR1_ENST00000360985.3_Silent_p.L366L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	366	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCAAGGCCCTGCGGCTCGGCG	0.607																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1096-1098)CTG>CTA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						53.0	47.0	49.0					19																	38939429		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38939429G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1098G>A	19.37:g.38939429G>A						RYR1_uc002oiu.2_Silent_p.L366L	p.L366L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	1228	+	all_cancers(60;7.91e-06)		366			Cytoplasmic.|MIR 5.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.1098G>A	CCDS33011.1																																																																																				0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			32	5	0	0	0	0.002445	0	32	5				
RYR1	6261	broad.mit.edu	37	19	38993190	38993190	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:38993190A>C	ENST00000359596.3	+	48	7658	c.7658A>C	c.(7657-7659)tAc>tCc	p.Y2553S	RYR1_ENST00000355481.4_Missense_Mutation_p.Y2553S|RYR1_ENST00000360985.3_Missense_Mutation_p.Y2553S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2553	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGAACCGCTACCTGTGCCTG	0.652																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7657-7659)TAC>TCC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						52.0	40.0	44.0					19																	38993190		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38993190A>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7658A>C	19.37:g.38993190A>C	ENSP00000352608:p.Tyr2553Ser					RYR1_uc002oiu.2_Missense_Mutation_p.Y2553S|RYR1_uc002oiv.1_5'UTR	p.Y2553S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		48	7788	+	all_cancers(60;7.91e-06)		2553			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7658A>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126448	0.37533	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91124	-2.79;-2.79;-2.79	4.14	4.14	0.48551	.	0.000000	0.64402	U	0.000007	D	0.94922	0.8358	M	0.83223	2.63	0.49687	D	0.999817	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	D	0.95399	0.8488	10	0.87932	D	0	.	12.5529	0.56236	1.0:0.0:0.0:0.0	.	2553;2553	P21817-2;P21817	.;RYR1_HUMAN	S	2553	ENSP00000352608:Y2553S;ENSP00000347667:Y2553S;ENSP00000354254:Y2553S	ENSP00000347667:Y2553S	Y	+	2	0	RYR1	43685030	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.147000	0.77382	1.863000	0.54032	0.260000	0.18958	TAC		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			23	2	0	0	0	0.00333	0	23	2				
MAP3K10	4294	broad.mit.edu	37	19	40710509	40710509	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:40710509G>T	ENST00000253055.3	+	3	1269	c.981G>T	c.(979-981)acG>acT	p.T327T	AC118344.1_ENST00000408124.1_RNA|MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCCCTCCACGTGCCCCGAGC	0.672																																							uc002ona.2		NA																	0				ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(979-981)ACG>ACT		mitogen-activated protein kinase kinase kinase							75.0	53.0	60.0					19																	40710509		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40710509G>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.981G>T	19.37:g.40710509G>T						MAP3K10_uc002onb.2_5'UTR	p.T327T	NM_002446	NP_002437	Q02779	M3K10_HUMAN			3	1269	+			327			Protein kinase.		Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.981G>T	CCDS12549.1																																																																																				0.672	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		28	30	1	0	5.60225e-13	0.009535	7.19439e-13	28	30				
C19orf47	126526	broad.mit.edu	37	19	40832386	40832386	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:40832386C>G	ENST00000582783.1	-	7	570	c.558G>C	c.(556-558)ctG>ctC	p.L186L	C19orf47_ENST00000392035.2_Silent_p.L119L	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	186						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCCGGCGGGCCAGGGCTGCTG	0.597																																							uc002oni.3		NA																	0				ovary(1)|skin(1)	2						c.(556-558)CTG>CTC		hypothetical protein LOC126526							39.0	32.0	34.0					19																	40832386		2203	4300	6503	SO:0001819	synonymous_variant	126526							g.chr19:40832386C>G	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.558G>C	19.37:g.40832386C>G						C19orf47_uc002ong.2_Silent_p.L45L|C19orf47_uc002onh.2_Silent_p.L119L	p.L186L	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		7	559	-			186					Q8IZ33|Q8N0V9	Silent	SNP	ENST00000582783.1	37	c.558G>C	CCDS58662.1																																																																																				0.597	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		7	15	0	0	0	0.001984	0	7	15				
SPTBN4	57731	broad.mit.edu	37	19	41009860	41009860	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41009860G>A	ENST00000352632.3	+	12	1572	c.1486G>A	c.(1486-1488)Gca>Aca	p.A496T	SPTBN4_ENST00000344104.3_Missense_Mutation_p.A496T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A496T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A496T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A496T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	496					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCATTGGCAGCCGAAGG	0.667																																							uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1486-1488)GCA>ACA		spectrin, beta, non-erythrocytic 4 isoform							36.0	38.0	37.0					19																	41009860		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009860G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1486G>A	19.37:g.41009860G>A	ENSP00000263373:p.Ala496Thr					SPTBN4_uc002onx.2_Missense_Mutation_p.A496T|SPTBN4_uc002onz.2_Missense_Mutation_p.A496T	p.A496T	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1572	+			496			Spectrin 3.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1486G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	g	18.07	3.541021	0.65085	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.49432	0.78;0.78;0.78	4.06	4.06	0.47325	.	0.092556	0.43579	U	0.000553	T	0.34745	0.0908	N	0.14661	0.345	0.80722	D	1	P;B	0.38280	0.625;0.13	B;B	0.40565	0.333;0.114	T	0.28744	-1.0034	10	0.39692	T	0.17	.	15.1263	0.72486	0.0:0.0:1.0:0.0	.	496;496	Q9H254;Q71S06	SPTN4_HUMAN;.	T	496	ENSP00000263373:A496T;ENSP00000340345:A496T;ENSP00000340741:A496T	ENSP00000340345:A496T	A	+	1	0	SPTBN4	45701700	1.000000	0.71417	0.886000	0.34754	0.562000	0.35680	9.582000	0.98214	2.090000	0.63153	0.486000	0.48141	GCA		0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			38	8	0	0	0	0.00623	0	38	8				
LTBP4	8425	broad.mit.edu	37	19	41135376	41135376	+	Missense_Mutation	SNP	C	C	G	rs199514354	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41135376C>G	ENST00000308370.7	+	34	4793	c.4793C>G	c.(4792-4794)tCc>tGc	p.S1598C	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.S1531C|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.S1561C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1599	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGATGGCTCCTTCCGCTGC	0.701																																							uc002ooh.1		NA																	0				central_nervous_system(1)	1						c.(4795-4797)TCC>TGC		latent transforming growth factor beta binding							31.0	35.0	34.0					19																	41135376		2165	4263	6428	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41135376C>G	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4793C>G	19.37:g.41135376C>G	ENSP00000311905:p.Ser1598Cys					LTBP4_uc002oog.1_Missense_Mutation_p.S1562C|LTBP4_uc002ooi.1_Missense_Mutation_p.S1532C|LTBP4_uc002ooj.1_Missense_Mutation_p.S472C|LTBP4_uc002ool.1_Missense_Mutation_p.S611C|LTBP4_uc010xvp.1_Missense_Mutation_p.S359C	p.S1599C	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	4796	+			1599			EGF-like 16.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4796C>G		.	.	.	.	.	.	.	.	.	.	C	24.5	4.535798	0.85812	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.95377	-3.69;-3.69;-3.69	3.82	3.82	0.43975	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.34802	N	0.003663	D	0.97458	0.9168	.	.	.	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.999;0.999	D	0.98143	1.0437	9	0.87932	D	0	.	14.9876	0.71359	0.0:1.0:0.0:0.0	.	359;611;1531;1599;1561	F5GYA5;Q8N2S1-4;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	C	1561;1598;1531;359	ENSP00000204005:S1561C;ENSP00000311905:S1598C;ENSP00000380031:S1531C	ENSP00000204005:S1561C	S	+	2	0	LTBP4	45827216	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.425000	0.80255	2.136000	0.66102	0.563000	0.77884	TCC		0.701	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		22	22	0	0	0	0.001882	0	22	22				
CYP2B6	1555	broad.mit.edu	37	19	41518391	41518391	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41518391G>T	ENST00000324071.4	+	7	1159		c.e7+1		CYP2B6_ENST00000330446.5_Splice_Site|CYP2B6_ENST00000593831.1_Splice_Site	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6						cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CATCCCCAAGGTAAGACCGGC	0.512																																							uc002opr.1		NA																	0				ovary(1)|skin(1)	2						c.e7+1		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						76.0	66.0	70.0					19																	41518391		2203	4300	6503	SO:0001630	splice_region_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41518391G>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1152+1G>T	19.37:g.41518391G>T						CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Splice_Site_p.K184_splice	p.K384_splice	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		7	1159	+								B4DWP3|Q2V565|Q9UK46	Splice_Site	SNP	ENST00000324071.4	37	c.1152_splice	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984772	0.53934	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.32	0.66479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2B6	46210231	1.000000	0.71417	0.906000	0.35671	0.059000	0.15707	8.909000	0.92647	2.219000	0.72066	0.298000	0.19748	.		0.512	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	Intron	42	10	1	0	4.67007e-22	0.00874	7.12858e-22	42	10				
CYP2A13	1553	broad.mit.edu	37	19	41596345	41596345	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:41596345C>T	ENST00000330436.3	+	4	530	c.530C>T	c.(529-531)aCa>aTa	p.T177I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	177					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTGAGCCGCACAGTCTCCAAT	0.552																																							uc002opt.2		NA																	0				ovary(2)|skin(1)	3						c.(529-531)ACA>ATA		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						140.0	127.0	131.0					19																	41596345		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596345C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.530C>T	19.37:g.41596345C>T	ENSP00000332679:p.Thr177Ile						p.T177I	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			4	539	+			177					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.530C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	12.40	1.926804	0.34002	.	.	ENSG00000197838	ENST00000330436	T	0.01234	5.13	3.66	3.66	0.41972	.	0.304354	0.33895	U	0.004442	T	0.03959	0.0111	L	0.33189	0.99	0.24162	N	0.99565	P	0.50156	0.932	D	0.63033	0.91	T	0.35895	-0.9770	10	0.48119	T	0.1	.	14.2705	0.66149	0.0:1.0:0.0:0.0	.	177	Q16696	CP2AD_HUMAN	I	177	ENSP00000332679:T177I	ENSP00000332679:T177I	T	+	2	0	CYP2A13	46288185	0.463000	0.25799	0.012000	0.15200	0.003000	0.03518	3.992000	0.56980	1.871000	0.54225	0.195000	0.17529	ACA		0.552	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		76	22	0	0	0	0.00361	0	76	22				
PSG8	440533	broad.mit.edu	37	19	43258502	43258502	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:43258502A>G	ENST00000306511.4	-	5	1323	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.M287T|PSG8_ENST00000404209.4_Missense_Mutation_p.M409T|PSG8_ENST00000401467.2_Missense_Mutation_p.M316T	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	409	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTTTACTGTCATGGATTTGGA	0.458																																							uc002ouo.2		NA																	0					0						c.(1225-1227)ATG>ACG		pregnancy specific beta-1-glycoprotein 8 isoform							198.0	211.0	207.0					19																	43258502		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43258502A>G	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1226T>C	19.37:g.43258502A>G	ENSP00000305005:p.Met409Thr					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.M248T|PSG8_uc002ouh.2_Missense_Mutation_p.M409T|PSG8_uc010ein.2_Missense_Mutation_p.M287T|PSG8_uc002ouj.3_Missense_Mutation_p.M191T|PSG8_uc002ouk.3_Missense_Mutation_p.M248T|PSG8_uc002oul.3_Missense_Mutation_p.M409T|PSG8_uc002oum.3_Missense_Mutation_p.M316T|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.M316T	p.M409T	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			5	1324	-		Prostate(69;0.00899)	409			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1226T>C	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	1.439	-0.568072	0.03910	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	1.28	0.0808	0.14422	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47266	0.1436	N	0.04768	-0.165	0.09310	N	1	B;B;B;B;B;B	0.25312	0.006;0.084;0.042;0.123;0.001;0.001	B;B;B;B;B;B	0.35655	0.009;0.09;0.102;0.207;0.003;0.005	T	0.41556	-0.9502	9	0.28530	T	0.3	.	3.3008	0.06983	0.3755:0.0:0.0:0.6245	.	287;316;409;316;409;409	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	T	409;191;287;316;221;316;409	ENSP00000385869:M409T;ENSP00000385081:M287T;ENSP00000386090:M316T;ENSP00000305005:M409T	ENSP00000292109:M191T	M	-	2	0	PSG8	47950342	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.154000	0.10130	-0.263000	0.09378	-1.070000	0.02257	ATG		0.458	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			211	48	0	0	0	0.00361	0	211	48				
IRF2BP1	26145	broad.mit.edu	37	19	46388940	46388940	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:46388940G>T	ENST00000302165.3	-	1	436	c.93C>A	c.(91-93)gcC>gcA	p.A31A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCGACACACGGCCTCGCTGA	0.697																																							uc002pds.1		NA																	0					0						c.(91-93)GCC>GCA		interferon regulatory factor 2 binding protein							18.0	17.0	17.0					19																	46388940		2175	4271	6446	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388940G>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.93C>A	19.37:g.46388940G>T							p.A31A	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	437	-		all_neural(266;0.113)|Ovarian(192;0.127)	31					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.93C>A	CCDS12678.1																																																																																				0.697	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		13	1	1	0	9.31168e-06	0.001855	1.02091e-05	13	1				
ZC3H4	23211	broad.mit.edu	37	19	47589728	47589728	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:47589728C>T	ENST00000253048.5	-	6	820	c.783G>A	c.(781-783)atG>atA	p.M261I	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	261	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGCCCCTGCCCATGCCGCGGC	0.647																																							uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(781-783)ATG>ATA		zinc finger CCCH-type containing 4							57.0	66.0	63.0					19																	47589728		1996	4140	6136	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47589728C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.783G>A	19.37:g.47589728C>T	ENSP00000253048:p.Met261Ile					ZC3H4_uc002pgb.1_Intron	p.M261I	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	6	821	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	261			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.783G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307927	0.60305	.	.	ENSG00000130749	ENST00000253048	T	0.17528	2.27	5.12	5.12	0.69794	.	2.101560	0.02807	N	0.123886	T	0.18841	0.0452	N	0.22421	0.69	0.29795	N	0.832881	B	0.17038	0.02	B	0.11329	0.006	T	0.20874	-1.0262	10	0.52906	T	0.07	.	15.8447	0.78879	0.0:1.0:0.0:0.0	.	261	Q9UPT8	ZC3H4_HUMAN	I	261	ENSP00000253048:M261I	ENSP00000253048:M261I	M	-	3	0	ZC3H4	52281568	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.444000	0.52914	2.540000	0.85666	0.655000	0.94253	ATG		0.647	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			35	6	0	0	0	0.004289	0	35	6				
SULT2A1	6822	broad.mit.edu	37	19	48382354	48382354	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:48382354C>T	ENST00000222002.3	-	4	645	c.506G>A	c.(505-507)gGc>gAc	p.G169D		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	GGGCATCCAGCCATGAATGTG	0.438																																							uc002phr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(505-507)GGC>GAC		bile-salt sulfotransferase 2A1							172.0	166.0	168.0					19																	48382354		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48382354C>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.506G>A	19.37:g.48382354C>T	ENSP00000222002:p.Gly169Asp						p.G169D	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	4	646	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	169						Missense_Mutation	SNP	ENST00000222002.3	37	c.506G>A	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806822	0.50421	.	.	ENSG00000105398	ENST00000222002	T	0.01887	4.58	3.76	1.56	0.23342	Sulfotransferase domain (1);	0.227370	0.28803	N	0.014086	T	0.09335	0.0230	M	0.80847	2.515	0.40100	D	0.976363	D	0.69078	0.997	D	0.68353	0.957	T	0.01829	-1.1265	10	0.62326	D	0.03	.	6.7726	0.23602	0.0:0.7142:0.1808:0.105	.	169	Q06520	ST2A1_HUMAN	D	169	ENSP00000222002:G169D	ENSP00000222002:G169D	G	-	2	0	SULT2A1	53074166	0.957000	0.32711	0.628000	0.29241	0.027000	0.11550	1.907000	0.39897	0.386000	0.24997	-0.176000	0.13171	GGC		0.438	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		50	72	0	0	0	0.00361	0	50	72				
RPL13A	23521	broad.mit.edu	37	19	49993753	49993753	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:49993753G>T	ENST00000391857.4	+	4	252	c.176G>T	c.(175-177)cGc>cTc	p.R59L	RPL13A_ENST00000477613.2_3'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD34_ENST00000365633.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	59					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GCTTTCCTCCGCAAGCGGATG	0.627																																							uc002pny.2		NA																	0					0						c.(175-177)CGC>CTC		ribosomal protein L13a							31.0	38.0	36.0					19																	49993753		2203	4300	6503	SO:0001583	missense	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49993753G>T	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.176G>T	19.37:g.49993753G>T	ENSP00000375730:p.Arg59Leu					RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.R49L|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	p.R59L	NM_012423	NP_036555	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	4	198	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	59					A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	c.176G>T	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693362	0.96793	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.34	5.34	0.76211	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.74238	0.3690	M	0.87617	2.895	0.80722	D	1	P;P	0.46020	0.871;0.829	P;P	0.47402	0.546;0.477	T	0.80407	-0.1395	9	0.87932	D	0	.	16.5412	0.84385	0.0:0.0:1.0:0.0	.	59;59	Q5QTS3;P40429	.;RL13A_HUMAN	L	59	.	ENSP00000375730:R59L	R	+	2	0	RPL13A	54685565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.125000	0.94402	2.496000	0.84212	0.655000	0.94253	CGC		0.627	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1			42	9	1	0	6.31075e-24	0.00361	9.86661e-24	42	9				
CPT1C	126129	broad.mit.edu	37	19	50208355	50208355	+	Missense_Mutation	SNP	G	G	T	rs143361095		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:50208355G>T	ENST00000392518.4	+	9	1235	c.863G>T	c.(862-864)cGc>cTc	p.R288L	CPT1C_ENST00000354199.5_Missense_Mutation_p.R288L|CPT1C_ENST00000323446.5_Missense_Mutation_p.R288L|CPT1C_ENST00000405931.2_Missense_Mutation_p.R277L|CPT1C_ENST00000598293.1_Missense_Mutation_p.R288L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	288					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CGCCTGAACCGCCAGGAGATA	0.662																																							uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(862-864)CGC>CTC		carnitine palmitoyltransferase 1C isoform 2							58.0	60.0	59.0					19																	50208355		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208355G>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.863G>T	19.37:g.50208355G>T	ENSP00000376303:p.Arg288Leu					CPT1C_uc002ppl.3_Missense_Mutation_p.R254L|CPT1C_uc002ppi.2_Missense_Mutation_p.R205L|CPT1C_uc002ppk.2_Missense_Mutation_p.R277L|CPT1C_uc010eng.2_Missense_Mutation_p.R288L|CPT1C_uc010enh.2_Missense_Mutation_p.R288L|CPT1C_uc010ybc.1_Missense_Mutation_p.R126L|CPT1C_uc010eni.1_5'Flank	p.R288L	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	8	1068	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	288			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.863G>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478368	0.63849	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	4.34	4.34	0.51931	.	0.000000	0.47455	D	0.000231	D	0.94840	0.8333	M	0.86740	2.835	0.44702	D	0.997699	D;D;D;P	0.76494	0.997;0.999;0.99;0.947	D;D;P;D	0.69142	0.953;0.957;0.907;0.962	D	0.94986	0.8130	10	0.87932	D	0	-30.9378	10.1157	0.42589	0.0981:0.0:0.9019:0.0	.	126;288;277;288	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	L	288;288;277;288;126	ENSP00000376303:R288L;ENSP00000346138:R288L;ENSP00000384465:R277L;ENSP00000319343:R288L	ENSP00000295404:R126L	R	+	2	0	CPT1C	54900167	0.724000	0.28038	0.999000	0.59377	0.533000	0.34776	1.935000	0.40173	2.260000	0.74910	0.561000	0.74099	CGC		0.662	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		67	11	1	0	9.12251e-31	0.00361	1.52885e-30	67	11				
KLK2	3817	broad.mit.edu	37	19	51379992	51379992	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51379992G>T	ENST00000325321.3	+	3	696	c.471G>T	c.(469-471)tgG>tgT	p.W157C	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_Missense_Mutation_p.W55C|KLK2_ENST00000358049.4_Missense_Mutation_p.W157C			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	157	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCTCAGGCTGGGGCAGCATCG	0.637			T	ETV4	prostate																																		uc002ptv.2		NA		Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate		0				ovary(1)|skin(1)	2						c.(469-471)TGG>TGT		kallikrein 2, prostatic isoform 1							42.0	42.0	42.0					19																	51379992		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51379992G>T	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.471G>T	19.37:g.51379992G>T	ENSP00000313581:p.Trp157Cys					KLK2_uc010eog.2_Missense_Mutation_p.W55C|KLK2_uc010yck.1_Missense_Mutation_p.W157C|KLK2_uc002ptu.2_Missense_Mutation_p.W157C|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.W140C|KLK2_uc010ycm.1_Missense_Mutation_p.W55C|KLK2_uc010eoh.2_Missense_Mutation_p.W55C	p.W157C	NM_005551	NP_005542	P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	3	512	+		all_neural(266;0.026)	157			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.471G>T	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955725	0.73902	.	.	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	T;T;T	0.18016	2.24;2.24;2.24	3.01	3.01	0.34805	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.549998	0.14130	N	0.339422	T	0.57770	0.2076	H	0.98351	4.21	0.51233	D	0.999917	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70612	-0.4824	10	0.87932	D	0	.	11.8089	0.52171	0.0:0.0:1.0:0.0	.	140;157;157	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	C	157;157;55	ENSP00000313581:W157C;ENSP00000350748:W157C;ENSP00000375686:W55C	ENSP00000313581:W157C	W	+	3	0	KLK2	56071804	1.000000	0.71417	0.938000	0.37757	0.597000	0.36814	5.165000	0.64959	1.415000	0.47037	0.305000	0.20034	TGG		0.637	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		26	19	1	0	4.4004e-07	0.00333	4.97101e-07	26	19				
KLK10	5655	broad.mit.edu	37	19	51518109	51518109	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51518109T>A	ENST00000309958.3	-	6	996	c.778A>T	c.(778-780)Acc>Tcc	p.T260S	KLK10_ENST00000391805.1_Missense_Mutation_p.T260S|CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Missense_Mutation_p.T260S|CTB-147C22.9_ENST00000594512.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	260	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGATCTGGGTGTAGACAGCT	0.542																																							uc002puy.2		NA																	0				lung(2)	2						c.(778-780)ACC>TCC		kallikrein-related peptidase 10 preproprotein							132.0	120.0	124.0					19																	51518109		2203	4300	6503	SO:0001583	missense	5655				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51518109T>A	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.778A>T	19.37:g.51518109T>A	ENSP00000311746:p.Thr260Ser					KLK10_uc002puz.2_Missense_Mutation_p.T260S|KLK10_uc002pva.2_Missense_Mutation_p.T260S	p.T260S	NM_145888	NP_665895	O43240	KLK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	6	859	-		all_neural(266;0.026)	260			Peptidase S1.		A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	c.778A>T	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	t	17.08	3.297026	0.60086	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.95035	-3.59;-3.59;-3.59	4.66	2.52	0.30459	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.94820	0.8327	M	0.79805	2.47	0.23693	N	0.997093	P	0.44090	0.826	P	0.50082	0.63	D	0.88434	0.3037	9	0.72032	D	0.01	.	5.0604	0.14555	0.161:0.0918:0.0:0.7472	.	260	O43240	KLK10_HUMAN	S	260	ENSP00000375681:T260S;ENSP00000311746:T260S;ENSP00000351640:T260S	ENSP00000311746:T260S	T	-	1	0	KLK10	56209921	1.000000	0.71417	0.812000	0.32479	0.618000	0.37518	0.748000	0.26305	0.247000	0.21414	0.260000	0.18958	ACC		0.542	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776		23	72	0	0	0	0.00278	0	23	72				
SIGLECL1	284369	broad.mit.edu	37	19	51770667	51770667	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51770667G>A	ENST00000316401.7	+	5	832	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	SIGLECL1_ENST00000597824.1_Missense_Mutation_p.A57T|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	515	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										GAAAGCTGCAGCGATCAGAGC	0.473																																							uc002pwb.1		NA																	0				ovary(1)|pancreas(1)	2						c.(451-453)GCG>ACG		hypothetical protein LOC284369							118.0	119.0	118.0					19																	51770667		2203	4300	6503	SO:0001583	missense	284369					integral to membrane		g.chr19:51770667G>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.451G>A	19.37:g.51770667G>A	ENSP00000321249:p.Ala151Thr					C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.A57T	p.A151T	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			5	832	+			151					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.451G>A	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818149	0.32145	.	.	ENSG00000179213	ENST00000316401	T	0.38560	1.13	3.52	0.771	0.18504	.	.	.	.	.	T	0.27384	0.0672	L	0.53249	1.67	0.09310	N	1	P;P	0.46512	0.879;0.557	B;B	0.37144	0.242;0.217	T	0.15407	-1.0438	9	0.13470	T	0.59	.	3.697	0.08368	0.1976:0.2462:0.5562:0.0	.	57;151	B7ZLS6;Q8N7X8	.;CS075_HUMAN	T	151	ENSP00000321249:A151T	ENSP00000321249:A151T	A	+	1	0	C19orf75	56462479	0.001000	0.12720	0.001000	0.08648	0.194000	0.23727	0.215000	0.17562	0.237000	0.21200	0.650000	0.86243	GCG		0.473	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		37	92	0	0	0	0.003271	0	37	92				
CEACAM18	729767	broad.mit.edu	37	19	51983828	51983828	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:51983828C>T	ENST00000396477.4	+	2	315	c.294C>T	c.(292-294)ggC>ggT	p.G98G	CEACAM18_ENST00000451626.1_Silent_p.G159G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	98										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACAGAGAAGGCAGCCTGTTGA	0.562																																							uc002pwv.1		NA																	0				skin(1)	1						c.(475-477)GGC>GGT		carcinoembryonic antigen-related cell adhesion							75.0	76.0	75.0					19																	51983828		1997	4170	6167	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51983828C>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.294C>T	19.37:g.51983828C>T							p.G159G	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	477	+		all_neural(266;0.0529)	159					C9JN24	Silent	SNP	ENST00000396477.4	37	c.477C>T																																																																																					0.562	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			30	20	0	0	0	0.007291	0	30	20				
SIGLEC6	946	broad.mit.edu	37	19	52034179	52034179	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:52034179C>T	ENST00000425629.3	-	3	616	c.462G>A	c.(460-462)ggG>ggA	p.G154G	SIGLEC6_ENST00000346477.3_Silent_p.G154G|SIGLEC6_ENST00000391797.3_Splice_Site_p.G143G|SIGLEC6_ENST00000343300.4_Silent_p.G154G|SIGLEC6_ENST00000359982.4_Silent_p.G154G|SIGLEC6_ENST00000436458.1_Silent_p.G118G|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	154	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACTCCAGGGTCCCTGGGATGG	0.637																																							uc002pwy.2		NA																	0				ovary(1)	1						c.(460-462)GGG>GGA		sialic acid binding Ig-like lectin 6 isoform 1							77.0	83.0	81.0					19																	52034179		2203	4300	6503	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034179C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.462G>A	19.37:g.52034179C>T						SIGLEC6_uc002pwz.2_Silent_p.G154G|SIGLEC6_uc002pxa.2_Silent_p.G154G|SIGLEC6_uc010ydb.1_Silent_p.G107G|SIGLEC6_uc010ydc.1_Silent_p.G143G|SIGLEC6_uc010eoz.1_Silent_p.G132G|SIGLEC6_uc010epb.1_Silent_p.G107G|SIGLEC6_uc010epa.1_Silent_p.G143G	p.G154G	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	624	-		all_neural(266;0.0199)	154			Ig-like C2-type 1.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.462G>A	CCDS12834.3																																																																																				0.637	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		79	64	0	0	0	0.00361	0	79	64				
ZNF577	84765	broad.mit.edu	37	19	52376688	52376688	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:52376688G>T	ENST00000301399.5	-	7	920	c.555C>A	c.(553-555)ccC>ccA	p.P185P	ZNF577_ENST00000420592.1_Silent_p.P126P|ZNF577_ENST00000451628.2_Silent_p.P126P|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACATCCATGGGGTTTCTCTC	0.478																																							uc010yde.1		NA																	0				ovary(1)	1						c.(553-555)CCC>CCA		zinc finger protein 577 isoform a							127.0	118.0	121.0					19																	52376688		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376688G>T	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.555C>A	19.37:g.52376688G>T						ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.P126P|ZNF577_uc002pxv.2_Silent_p.P178P|ZNF577_uc002pxw.2_Silent_p.P119P	p.P185P	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	946	-		all_neural(266;0.0602)	185					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.555C>A	CCDS12842.2																																																																																				0.478	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		60	46	1	0	1.19553e-41	0.00361	2.12319e-41	60	46				
ZNF578	147660	broad.mit.edu	37	19	53014061	53014061	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:53014061G>T	ENST00000421239.2	+	6	671	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGACCGACATGATCAAAGGCA	0.393																																							uc002pzp.3		NA																	0					0						c.(427-429)GAT>TAT		zinc finger protein 578							150.0	151.0	151.0					19																	53014061		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014061G>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.427G>T	19.37:g.53014061G>T	ENSP00000459216:p.Asp143Tyr						p.D143Y	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	671	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.427G>T	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	10.92	1.486534	0.26686	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-2.27	0.06846	.	.	.	.	.	T	0.38532	0.1044	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.29088	-1.0023	7	.	.	.	.	6.1439	0.20275	0.4136:0.0:0.5864:0.0	.	143	G3V4F6	.	Y	143	.	.	D	+	1	0	ZNF578	57705873	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.755000	0.04709	0.134000	0.15878	GAT		0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		103	69	1	0	6.21867e-57	0.00361	1.14651e-56	103	69				
VN1R2	317701	broad.mit.edu	37	19	53762072	53762072	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:53762072G>T	ENST00000341702.3	+	1	528	c.444G>T	c.(442-444)atG>atT	p.M148I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	148					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CAGAGACCATGGCAACTTTTG	0.438																																							uc002qbi.2		NA																	0					0						c.(442-444)ATG>ATT		vomeronasal 1 receptor 2							67.0	70.0	69.0					19																	53762072		2202	4300	6502	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762072G>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.444G>T	19.37:g.53762072G>T	ENSP00000351244:p.Met148Ile						p.M148I	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	528	+			148			Extracellular (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.444G>T	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	4.705	0.131057	0.08981	.	.	ENSG00000196131	ENST00000341702	T	0.09163	3.01	2.94	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12646	0.0307	L	0.45581	1.43	0.09310	N	1	P	0.37370	0.592	P	0.44422	0.449	T	0.21381	-1.0247	9	0.41790	T	0.15	.	5.1721	0.15116	0.2726:0.0:0.7274:0.0	.	148	Q8NFZ6	VN1R2_HUMAN	I	148	ENSP00000351244:M148I	ENSP00000351244:M148I	M	+	3	0	VN1R2	58453884	0.002000	0.14202	0.002000	0.10522	0.012000	0.07955	0.217000	0.17603	0.826000	0.34661	0.596000	0.82720	ATG		0.438	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		22	48	1	0	1.10923e-09	0.00278	1.33494e-09	22	48				
CACNG6	59285	broad.mit.edu	37	19	54515347	54515347	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:54515347G>T	ENST00000252729.2	+	4	1277	c.687G>T	c.(685-687)ctG>ctT	p.L229L	CACNG6_ENST00000352529.1_Silent_p.L158L|CACNG6_ENST00000346968.2_Silent_p.L183L	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	229					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GGGCCGGCCTGATCCTGCTGT	0.716																																							uc002qct.2		NA																	0				ovary(2)	2						c.(685-687)CTG>CTT		voltage-dependent calcium channel gamma-6							24.0	29.0	27.0					19																	54515347		2187	4276	6463	SO:0001819	synonymous_variant	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54515347G>T	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.687G>T	19.37:g.54515347G>T						CACNG6_uc002qcu.2_Silent_p.L183L|CACNG6_uc002qcv.2_Silent_p.L158L	p.L229L	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	4	1277	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		229			Helical; (Potential).			Silent	SNP	ENST00000252729.2	37	c.687G>T	CCDS12870.1																																																																																				0.716	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			23	74	1	0	5.35356e-11	0.00278	6.63704e-11	23	74				
PRPF31	26121	broad.mit.edu	37	19	54621832	54621832	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:54621832G>C	ENST00000321030.4	+	2	523	c.174G>C	c.(172-174)aaG>aaC	p.K58N	AC012314.8_ENST00000452097.1_RNA|TFPT_ENST00000391759.1_5'Flank|PRPF31_ENST00000419967.1_Missense_Mutation_p.K58N|PRPF31_ENST00000391755.1_Missense_Mutation_p.K58N	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	58					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGATAGTAAGATGGTAAGAG	0.517																																							uc002qdh.2		NA																	0				ovary(1)	1						c.(172-174)AAG>AAC		pre-mRNA processing factor 31 homolog							150.0	149.0	149.0					19																	54621832		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54621832G>C	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.174G>C	19.37:g.54621832G>C	ENSP00000324122:p.Lys58Asn					TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.K58N	p.K58N	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			2	570	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		58					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.174G>C	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193960	0.38707	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	T;D;T;D;D;D	0.90900	-1.17;-2.75;-1.17;-2.75;-2.75;-2.74	4.77	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.86134	0.5860	M	0.61703	1.905	0.49582	D	0.999806	P;P	0.39737	0.685;0.685	B;B	0.33620	0.167;0.085	D	0.84122	0.0407	10	0.46703	T	0.11	-46.8776	8.7445	0.34578	0.1766:0.0:0.8234:0.0	.	58;58	E7ESA8;Q8WWY3	.;PRP31_HUMAN	N	58	ENSP00000324122:K58N;ENSP00000395894:K58N;ENSP00000405166:K58N;ENSP00000408980:K58N;ENSP00000395089:K58N;ENSP00000375635:K58N	ENSP00000263436:K58N	K	+	3	2	PRPF31	59313644	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.031000	0.57267	1.147000	0.42369	-0.136000	0.14681	AAG		0.517	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			59	114	0	0	0	0.00361	0	59	114				
LILRB2	10288	broad.mit.edu	37	19	54782228	54782228	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:54782228G>A	ENST00000391749.4	-	7	1415	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	LILRB2_ENST00000391746.1_Missense_Mutation_p.P382S|LILRB2_ENST00000391748.1_Missense_Mutation_p.P382S|LILRB2_ENST00000434421.1_Missense_Mutation_p.P266S|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.P382S	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	382	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGACTCATGGGGAATTCAGCC	0.582																																							uc002qfb.2		NA																	0				skin(1)	1						c.(1144-1146)CCC>TCC		leukocyte immunoglobulin-like receptor,							153.0	151.0	152.0					19																	54782228		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782228G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1144C>T	19.37:g.54782228G>A	ENSP00000375629:p.Pro382Ser					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P382S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P382S|LILRB2_uc010yet.1_Missense_Mutation_p.P266S|LILRB2_uc010yeu.1_RNA	p.P382S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1410	-	Ovarian(34;0.19)		382			Extracellular (Potential).|Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1144C>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.142160	0.00332	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.02709	4.19;4.19;4.19;4.19;4.19	1.88	-3.77	0.04346	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.652820	0.04083	N	0.309965	T	0.03011	0.0089	N	0.11756	0.17	0.09310	N	1	B;B;P	0.50528	0.099;0.012;0.936	B;B;P	0.59424	0.189;0.091;0.857	T	0.40997	-0.9533	10	0.02654	T	1	.	2.8802	0.05645	0.2537:0.0:0.3129:0.4334	.	382;399;382	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	S	382;382;382;382;266	ENSP00000375628:P382S;ENSP00000319960:P382S;ENSP00000375629:P382S;ENSP00000375626:P382S;ENSP00000410117:P266S	ENSP00000319960:P382S	P	-	1	0	LILRB2	59474040	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-1.755000	0.01814	-1.998000	0.00968	-0.432000	0.05891	CCC		0.582	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			109	76	0	0	0	0.00361	0	109	76				
NLRP7	199713	broad.mit.edu	37	19	55451566	55451566	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:55451566C>A	ENST00000590030.1	-	3	661	c.621G>T	c.(619-621)gcG>gcT	p.A207A	NLRP7_ENST00000588756.1_Silent_p.A207A|NLRP7_ENST00000448121.2_Silent_p.A207A|NLRP7_ENST00000340844.2_Silent_p.A207A|NLRP7_ENST00000446217.1_Silent_p.A235A|NLRP7_ENST00000592784.1_Silent_p.A207A|NLRP7_ENST00000328092.5_Silent_p.A207A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	207	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGAGGTAGAACGCGTATCTGA	0.582																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(619-621)GCG>GCT		NACHT, leucine rich repeat and PYD containing 7							108.0	103.0	105.0					19																	55451566		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451566C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.621G>T	19.37:g.55451566C>A						NLRP7_uc002qig.3_Silent_p.A207A|NLRP7_uc002qii.3_Silent_p.A207A|NLRP7_uc010esk.2_Silent_p.A207A|NLRP7_uc010esl.2_Silent_p.A235A	p.A207A	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	697	-			207			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.621G>T	CCDS33109.1																																																																																				0.582	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		38	30	1	0	3.33393e-15	0.004878	4.49953e-15	38	30				
NLRP2	55655	broad.mit.edu	37	19	55493576	55493576	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:55493576G>C	ENST00000543010.1	+	6	653	c.510G>C	c.(508-510)gaG>gaC	p.E170D	NLRP2_ENST00000339757.7_Missense_Mutation_p.E148D|NLRP2_ENST00000537859.1_Missense_Mutation_p.E148D|NLRP2_ENST00000263437.6_Missense_Mutation_p.E167D|NLRP2_ENST00000391721.4_Missense_Mutation_p.E146D|NLRP2_ENST00000538819.1_Missense_Mutation_p.E146D|NLRP2_ENST00000448584.2_Missense_Mutation_p.E170D|NLRP2_ENST00000427260.2_Missense_Mutation_p.E147D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	170					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGTTCCGGGAGATGTGGAAGA	0.502																																							uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(508-510)GAG>GAC		NLR family, pyrin domain containing 2							171.0	186.0	181.0					19																	55493576		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493576G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.510G>C	19.37:g.55493576G>C	ENSP00000445135:p.Glu170Asp					NLRP2_uc010yfp.1_Missense_Mutation_p.E147D|NLRP2_uc010esn.2_Missense_Mutation_p.E146D|NLRP2_uc010eso.2_Missense_Mutation_p.E167D|NLRP2_uc010esp.2_Missense_Mutation_p.E148D	p.E170D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	596	+			170					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.510G>C	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	1.144	-0.648735	0.03506	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74421	-0.8;-0.73;-0.72;-0.8;-0.72;-0.84;-0.73;0.47	2.29	-4.44	0.03557	.	.	.	.	.	T	0.42426	0.1202	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P	0.40875	0.488;0.622;0.488;0.622;0.731	B;B;B;B;B	0.34093	0.07;0.146;0.108;0.146;0.175	T	0.45629	-0.9248	9	0.15066	T	0.55	.	1.155	0.01793	0.2262:0.1845:0.406:0.1833	.	147;148;167;146;170	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	D	170;146;148;170;148;147;146;167	ENSP00000445135:E170D;ENSP00000375601:E146D;ENSP00000344074:E148D;ENSP00000409370:E170D;ENSP00000440601:E148D;ENSP00000402474:E147D;ENSP00000441133:E146D;ENSP00000263437:E167D	ENSP00000263437:E167D	E	+	3	2	NLRP2	60185388	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.849000	0.04322	-1.298000	0.02348	-0.367000	0.07326	GAG		0.502	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		78	196	0	0	0	0.00361	0	78	196				
NLRP13	126204	broad.mit.edu	37	19	56443530	56443530	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:56443530C>A	ENST00000342929.3	-	1	147	c.148G>T	c.(148-150)Ggg>Tgg	p.G50W	NLRP13_ENST00000588751.1_Missense_Mutation_p.G50W	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	50	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGGAAGTGCCCCTGGGGGGCC	0.547																																							uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(148-150)GGG>TGG		NACHT, leucine rich repeat and PYD containing							54.0	58.0	56.0					19																	56443530		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56443530C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.148G>T	19.37:g.56443530C>A	ENSP00000343891:p.Gly50Trp						p.G50W	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	173	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	50			DAPIN.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.148G>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359011	0.24598	.	.	ENSG00000173572	ENST00000342929	T	0.50001	0.76	1.97	0.635	0.17723	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.41511	0.1162	N	0.19112	0.55	0.09310	N	1	D	0.58268	0.982	P	0.57679	0.825	T	0.21211	-1.0252	9	0.62326	D	0.03	.	3.8232	0.08843	0.0:0.6974:0.0:0.3026	.	50	Q86W25	NAL13_HUMAN	W	50	ENSP00000343891:G50W	ENSP00000343891:G50W	G	-	1	0	NLRP13	61135342	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.372000	0.20467	0.228000	0.21019	0.591000	0.81541	GGG		0.547	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		51	49	1	0	1.56793e-16	0.00361	2.16443e-16	51	49				
NLRP8	126205	broad.mit.edu	37	19	56487608	56487608	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:56487608G>A	ENST00000291971.3	+	8	2886	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D920N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	939					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTGAAGGATGATGGGGTGAT	0.468																																							uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2815-2817)GAT>AAT		NLR family, pyrin domain containing 8							142.0	139.0	140.0					19																	56487608		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56487608G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2815G>A	19.37:g.56487608G>A	ENSP00000291971:p.Asp939Asn					NLRP8_uc010etg.2_Missense_Mutation_p.D920N	p.D939N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2886	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	939			LRR 5.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2815G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	5.593	0.294168	0.10567	.	.	ENSG00000179709	ENST00000291971	T	0.65732	-0.17	2.94	-3.38	0.04883	.	.	.	.	.	T	0.43853	0.1266	L	0.33137	0.985	0.09310	N	1	B;B	0.27450	0.047;0.179	B;B	0.30401	0.07;0.115	T	0.36456	-0.9747	9	0.13108	T	0.6	.	7.6505	0.28346	0.6149:0.0:0.3851:0.0	.	920;939	Q86W28-2;Q86W28	.;NALP8_HUMAN	N	939	ENSP00000291971:D939N	ENSP00000291971:D939N	D	+	1	0	NLRP8	61179420	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.306000	0.08178	-0.627000	0.05589	0.514000	0.50259	GAT		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		41	79	0	0	0	0.009718	0	41	79				
NLRP5	126206	broad.mit.edu	37	19	56544100	56544100	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:56544100C>A	ENST00000390649.3	+	8	2400	c.2400C>A	c.(2398-2400)acC>acA	p.T800T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	800					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCATGAAGACCCTGTGTGCCA	0.607																																							uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2398-2400)ACC>ACA		NACHT, LRR and PYD containing protein 5							110.0	116.0	114.0					19																	56544100		2094	4238	6332	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56544100C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2400C>A	19.37:g.56544100C>A						NLRP5_uc002qmi.2_Silent_p.T781T	p.T800T	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	8	2400	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	800			LRR 3.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2400C>A	CCDS12938.1																																																																																				0.607	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		48	58	1	0	3.16986e-14	0.00361	4.16758e-14	48	58				
PEG3	5178	broad.mit.edu	37	19	57325401	57325401	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57325401C>G	ENST00000326441.9	-	10	4772	c.4409G>C	c.(4408-4410)gGa>gCa	p.G1470A	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1470A|PEG3_ENST00000593695.1_Missense_Mutation_p.G1344A|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1346A|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1470	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCAGCTTTTCCCTCTGGCTC	0.527																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4408-4410)GGA>GCA		paternally expressed 3 isoform 1							128.0	116.0	120.0					19																	57325401		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325401C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4409G>C	19.37:g.57325401C>G	ENSP00000326581:p.Gly1470Ala					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1441A|PEG3_uc002qnv.2_Missense_Mutation_p.G1470A|PEG3_uc002qnw.2_Missense_Mutation_p.G1346A|PEG3_uc002qnx.2_Missense_Mutation_p.G1344A|PEG3_uc010etr.2_Missense_Mutation_p.G1470A	p.G1470A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4760	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1470			Glu-rich.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4409G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644281	0.03531	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02763	4.17;4.17	2.72	0.592	0.17471	.	0.493895	0.17190	N	0.183530	T	0.01320	0.0043	N	0.19112	0.55	.	.	.	P;P;P	0.40970	0.734;0.734;0.734	B;B;B	0.32090	0.14;0.14;0.14	T	0.40515	-0.9559	9	0.08837	T	0.75	-5.2468	4.0627	0.09846	0.0:0.6313:0.0:0.3687	.	1346;1470;1405	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	A	1470	ENSP00000326581:G1470A;ENSP00000403051:G1470A	ENSP00000326581:G1470A	G	-	2	0	ZIM2	62017213	0.000000	0.05858	0.521000	0.27850	0.997000	0.91878	-0.012000	0.12699	0.218000	0.20820	0.650000	0.86243	GGA		0.527	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			54	134	0	0	0	0.00361	0	54	134				
ZIM3	114026	broad.mit.edu	37	19	57646867	57646867	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57646867G>T	ENST00000269834.1	-	5	1223	c.838C>A	c.(838-840)Cag>Aag	p.Q280K	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTACACTGATAGGATTTC	0.378																																							uc002qnz.1		NA																	0				pancreas(1)|skin(1)	2						c.(838-840)CAG>AAG		zinc finger, imprinted 3							114.0	112.0	112.0					19																	57646867		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646867G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.838C>A	19.37:g.57646867G>T	ENSP00000269834:p.Gln280Lys						p.Q280K	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1224	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	280			C2H2-type 5.		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.838C>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	0.791	-0.758970	0.03019	.	.	ENSG00000141946	ENST00000269834	T	0.18657	2.2	2.53	-5.05	0.02955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.01656	-0.775	0.09310	N	1	B	0.19073	0.033	B	0.29440	0.102	T	0.36163	-0.9759	9	0.20519	T	0.43	.	1.0772	0.01635	0.1402:0.2039:0.3011:0.3548	.	280	Q96PE6	ZIM3_HUMAN	K	280	ENSP00000269834:Q280K	ENSP00000269834:Q280K	Q	-	1	0	ZIM3	62338679	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-4.539000	0.00219	-1.129000	0.02918	0.313000	0.20887	CAG		0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			56	42	1	0	1.11015e-26	0.00361	1.79368e-26	56	42				
ZNF304	57343	broad.mit.edu	37	19	57868146	57868146	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57868146A>T	ENST00000282286.5	+	3	1082	c.909A>T	c.(907-909)ggA>ggT	p.G303G	ZNF304_ENST00000598744.1_Silent_p.G261G|ZNF304_ENST00000391705.3_Silent_p.G303G|ZNF304_ENST00000443917.2_Silent_p.G350G			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCACACTGGAAAAAGACACT	0.428																																							uc010ygw.1		NA																	0				ovary(1)	1						c.(907-909)GGA>GGT		zinc finger protein 304							83.0	80.0	81.0					19																	57868146		2203	4300	6503	SO:0001819	synonymous_variant	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868146A>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.909A>T	19.37:g.57868146A>T						ZNF304_uc010etw.2_Silent_p.G350G|ZNF304_uc010etx.2_Silent_p.G261G	p.G303G	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1297	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	303						Silent	SNP	ENST00000282286.5	37	c.909A>T	CCDS12950.1																																																																																				0.428	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			17	49	0	0	0	0.008871	0	17	49				
ZNF548	147694	broad.mit.edu	37	19	57910682	57910682	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:57910682G>T	ENST00000366197.5	+	3	1277	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.G355W|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATGATTGTGGGAAATTTTT	0.408																																							uc002qom.2		NA																	0				breast(1)	1						c.(1027-1029)GGG>TGG		zinc finger protein 548							58.0	61.0	60.0					19																	57910682		2194	4298	6492	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910682G>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1027G>T	19.37:g.57910682G>T	ENSP00000379482:p.Gly343Trp					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.G346W	p.G343W	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1277	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	343			C2H2-type 6.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.1027G>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929140	0.52759	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.79554	-1.28;-1.28	2.76	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90421	0.7001	M	0.92367	3.3	0.28755	N	0.90121	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.82327	-0.0512	9	0.87932	D	0	.	8.6857	0.34236	0.1233:0.0:0.8767:0.0	.	355;343	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	W	355;343	ENSP00000337555:G355W;ENSP00000379482:G343W	ENSP00000337555:G355W	G	+	1	0	ZNF548	62602494	1.000000	0.71417	0.025000	0.17156	0.218000	0.24690	2.098000	0.41757	0.505000	0.28104	0.563000	0.77884	GGG		0.408	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		17	44	1	0	3.45872e-05	0.004007	3.74953e-05	17	44				
ZNF256	10172	broad.mit.edu	37	19	58453766	58453766	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:58453766T>A	ENST00000282308.3	-	3	606	c.410A>T	c.(409-411)cAg>cTg	p.Q137L	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	137					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		ATGCTGCTTCTGGTGCTGATG	0.458																																					NSCLC(55;1313 1552 8040 11996)	NSCLC(55;1313 1552 8040 11996)	uc002qqu.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(409-411)CAG>CTG		zinc finger protein 256							241.0	211.0	221.0					19																	58453766		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453766T>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.410A>T	19.37:g.58453766T>A	ENSP00000282308:p.Gln137Leu					ZNF256_uc010euj.2_5'UTR	p.Q137L	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	645	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	137					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.410A>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	12.77	2.037555	0.35989	.	.	ENSG00000152454	ENST00000282308	T	0.27256	1.68	3.35	2.29	0.28610	.	.	.	.	.	T	0.21062	0.0507	M	0.66439	2.03	0.09310	N	1	P	0.43477	0.808	B	0.30943	0.122	T	0.14337	-1.0476	9	0.54805	T	0.06	.	7.1244	0.25463	0.2009:0.0:0.0:0.7991	.	137	Q9Y2P7	ZN256_HUMAN	L	137	ENSP00000282308:Q137L	ENSP00000282308:Q137L	Q	-	2	0	ZNF256	63145578	0.002000	0.14202	0.005000	0.12908	0.494000	0.33585	-0.231000	0.09069	0.457000	0.26962	0.383000	0.25322	CAG		0.458	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			64	65	0	0	0	0.00361	0	64	65				
ZSCAN1	284312	broad.mit.edu	37	19	58551820	58551820	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:58551820C>A	ENST00000282326.1	+	4	620	c.373C>A	c.(373-375)Ctg>Atg	p.L125M		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	125					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGCACAGTTCTGGTATCTCT	0.587																																							uc002qrc.1		NA																	0				ovary(2)	2						c.(373-375)CTG>ATG		zinc finger and SCAN domain containing 1							108.0	119.0	115.0					19																	58551820		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551820C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.373C>A	19.37:g.58551820C>A	ENSP00000282326:p.Leu125Met						p.L125M	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	620	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	125					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.373C>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	7.125	0.578741	0.13686	.	.	ENSG00000152467	ENST00000282326	T	0.04970	3.52	1.09	-0.109	0.13584	Transcription regulator SCAN (1);	.	.	.	.	T	0.09024	0.0223	L	0.50333	1.59	0.80722	D	1	D	0.53462	0.96	P	0.51833	0.681	T	0.37798	-0.9690	9	0.34782	T	0.22	.	5.0705	0.14604	0.0:0.6241:0.3759:0.0	.	125	Q8NBB4	ZSCA1_HUMAN	M	125	ENSP00000282326:L125M	ENSP00000282326:L125M	L	+	1	2	ZSCAN1	63243632	0.221000	0.23642	0.989000	0.46669	0.770000	0.43624	0.067000	0.14510	0.015000	0.14971	0.313000	0.20887	CTG		0.587	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		50	121	1	0	2.47907e-22	0.00361	3.79613e-22	50	121				
SLC27A5	10998	broad.mit.edu	37	19	59021368	59021368	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:59021368G>A	ENST00000263093.2	-	3	1012	c.903C>T	c.(901-903)ctC>ctT	p.L301L	SLC27A5_ENST00000601355.1_Silent_p.L217L	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	301					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTGGCTTCGGGAGGCCTTGGG	0.577																																							uc002qtc.2		NA																	0					0						c.(901-903)CTC>CTT		solute carrier family 27 (fatty acid							105.0	78.0	87.0					19																	59021368		2203	4300	6503	SO:0001819	synonymous_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59021368G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.903C>T	19.37:g.59021368G>A							p.L301L	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	3	1013	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	301			Cytoplasmic (Probable).|AMP (Potential).		B3KVP6|B4DPQ1	Silent	SNP	ENST00000263093.2	37	c.903C>T	CCDS12983.1																																																																																				0.577	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		10	47	0	0	0	0.008291	0	10	47				
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:1460007G>T	ENST00000345913.4	+	7	863	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	TPO_ENST00000349624.3_Missense_Mutation_p.D258Y|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.D258Y|TPO_ENST00000346956.3_Missense_Mutation_p.D258Y|TPO_ENST00000382201.3_Missense_Mutation_p.D258Y|TPO_ENST00000337415.3_Missense_Mutation_p.D258Y|TPO_ENST00000382198.1_Missense_Mutation_p.D258Y	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463																																							uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(772-774)GAC>TAC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						80.0	72.0	75.0					2																	1460007		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1460007G>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.772G>T	2.37:g.1460007G>T	ENSP00000318820:p.Asp258Tyr					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D258Y|TPO_uc002qwr.2_Missense_Mutation_p.D258Y|TPO_uc002qwx.2_Missense_Mutation_p.D258Y|TPO_uc010yio.1_Missense_Mutation_p.D258Y|TPO_uc010yip.1_Missense_Mutation_p.D258Y	p.D258Y	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	863	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	258			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.772G>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293106	0.40594	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.81	3.93	0.45458	.	0.093051	0.64402	D	0.000001	D	0.88051	0.6333	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.80764	0.989;0.991;0.983;0.994	D	0.90290	0.4322	10	0.87932	D	0	-20.4229	13.336	0.60518	0.0776:0.0:0.9224:0.0	.	258;258;258;258	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	Y	258;258;258;258;258;258;258;187	ENSP00000337263:D258Y;ENSP00000318820:D258Y;ENSP00000263886:D258Y;ENSP00000332044:D258Y;ENSP00000329869:D258Y;ENSP00000371636:D258Y;ENSP00000371633:D258Y;ENSP00000405788:D187Y	ENSP00000329869:D258Y	D	+	1	0	TPO	1439014	1.000000	0.71417	0.267000	0.24556	0.103000	0.19146	5.784000	0.68990	1.143000	0.42306	0.563000	0.77884	GAC		0.463	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		19	11	1	0	3.51602e-12	0.008871	4.46779e-12	19	11				
ALLC	55821	broad.mit.edu	37	2	3743442	3743442	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:3743442G>T	ENST00000252505.3	+	8	809	c.647G>T	c.(646-648)gGg>gTg	p.G216V	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	235					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCTAAGTTTGGGCACCCAAAC	0.443										HNSCC(21;0.051)																													uc010ewt.2		NA																	0				central_nervous_system(1)	1						c.(646-648)GGG>GTG		allantoicase isoform a							69.0	69.0	69.0					2																	3743442		1857	4092	5949	SO:0001583	missense	55821						allantoicase activity	g.chr2:3743442G>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.647G>T	2.37:g.3743442G>T	ENSP00000252505:p.Gly216Val	HNSCC(21;0.051)				ALLC_uc002qyf.2_5'UTR	p.G216V	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	8	808	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	235					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.647G>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.927954	0.73327	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	5.42	0.78866	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.86896	0.6043	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90376	0.4384	9	0.87932	D	0	-8.0809	16.7056	0.85371	0.0:0.0:1.0:0.0	.	235	Q8N6M5	ALLC_HUMAN	V	216	.	ENSP00000252505:G216V	G	+	2	0	ALLC	3721317	1.000000	0.71417	0.968000	0.41197	0.797000	0.45037	7.258000	0.78371	2.554000	0.86153	0.561000	0.74099	GGG		0.443	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			14	20	1	0	4.36969e-10	0.001855	5.31174e-10	14	20				
KCNF1	3754	broad.mit.edu	37	2	11052723	11052723	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:11052723T>A	ENST00000295082.1	+	1	661	c.171T>A	c.(169-171)gcT>gcA	p.A57A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	57					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACTGCTTGGCTGGGGGCTACG	0.622																																							uc002rax.2		NA																	0				ovary(1)	1						c.(169-171)GCT>GCA		potassium voltage-gated channel, subfamily F,							33.0	34.0	34.0					2																	11052723		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052723T>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.171T>A	2.37:g.11052723T>A							p.A57A	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	661	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		57			Cytoplasmic (Potential).		O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.171T>A	CCDS1676.1																																																																																				0.622	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		7	31	0	0	0	0.001984	0	7	31				
NTSR2	23620	broad.mit.edu	37	2	11809768	11809768	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:11809768G>A	ENST00000306928.5	-	1	522	c.488C>T	c.(487-489)tCg>tTg	p.S163L		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	163					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGCCGAGCGAGGCGGCCCA	0.746																																							uc002rbq.3		NA																	0					0						c.(487-489)TCG>TTG		neurotensin receptor 2	Levocabastine(DB01106)						4.0	4.0	4.0					2																	11809768		1834	3693	5527	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11809768G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.488C>T	2.37:g.11809768G>A	ENSP00000303686:p.Ser163Leu						p.S163L	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	562	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		163			Helical; Name=4; (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.488C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168975	0.78339	.	.	ENSG00000169006	ENST00000306928	T	0.46819	0.86	3.85	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.480369	0.17419	N	0.174899	T	0.50257	0.1605	M	0.89601	3.045	0.32202	N	0.577636	B	0.28178	0.202	B	0.27500	0.08	T	0.57347	-0.7827	10	0.87932	D	0	-6.0875	5.6355	0.17534	0.1954:0.1642:0.6404:0.0	.	163	O95665	NTR2_HUMAN	L	163	ENSP00000303686:S163L	ENSP00000303686:S163L	S	-	2	0	NTSR2	11727219	1.000000	0.71417	0.024000	0.17045	0.961000	0.63080	4.308000	0.59129	0.215000	0.20761	0.555000	0.69702	TCG		0.746	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			3	10	0	0	0	0.004672	0	3	10				
TRIB2	28951	broad.mit.edu	37	2	12880825	12880825	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:12880825A>T	ENST00000155926.4	+	3	2356	c.937A>T	c.(937-939)Agc>Tgc	p.S313C	TRIB2_ENST00000381465.2_Missense_Mutation_p.S177C	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACAGATTTTAGCGTCTCGAA	0.517																																							uc002rbv.3		NA																	0				stomach(1)	1						c.(937-939)AGC>TGC		tribbles homolog 2							70.0	68.0	69.0					2																	12880825		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880825A>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.937A>T	2.37:g.12880825A>T	ENSP00000155926:p.Ser313Cys					TRIB2_uc010yjp.1_Missense_Mutation_p.S177C	p.S313C	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			3	2373	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		313						Missense_Mutation	SNP	ENST00000155926.4	37	c.937A>T	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220279	0.39201	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.50813	0.76;0.73	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.318910	0.41712	D	0.000830	T	0.31263	0.0791	N	0.08118	0	0.80722	D	1	B	0.25955	0.138	B	0.24541	0.054	T	0.16070	-1.0415	10	0.56958	D	0.05	-10.9127	15.5809	0.76439	1.0:0.0:0.0:0.0	.	313	Q92519	TRIB2_HUMAN	C	313;177	ENSP00000155926:S313C;ENSP00000370874:S177C	ENSP00000155926:S313C	S	+	1	0	TRIB2	12798276	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.573000	0.60893	2.275000	0.75901	0.528000	0.53228	AGC		0.517	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		38	23	0	0	0	0.007835	0	38	23				
NBAS	51594	broad.mit.edu	37	2	15493719	15493719	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:15493719G>T	ENST00000281513.5	-	34	4072	c.4047C>A	c.(4045-4047)agC>agA	p.S1349R	NBAS_ENST00000441750.1_Missense_Mutation_p.S1229R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1349					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAAGTTCAATGCTGCTAGGAG	0.473																																							uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(4045-4047)AGC>AGA		neuroblastoma-amplified protein							158.0	149.0	152.0					2																	15493719		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15493719G>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4047C>A	2.37:g.15493719G>T	ENSP00000281513:p.Ser1349Arg					NBAS_uc010exl.1_Missense_Mutation_p.S421R|NBAS_uc002rcd.1_RNA	p.S1349R	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			34	4073	-			1349					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4047C>A	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.999544|1.999544	0.35320|0.35320	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513	.|T;T	.|0.18502	.|2.21;2.21	5.83|5.83	4.05|4.05	0.47172|0.47172	.|Secretory pathway Sec39 (1);	.|0.360829	.|0.38720	.|N	.|0.001597	T|T	0.10337|0.10337	0.0253|0.0253	N|N	0.20986|0.20986	0.625|0.625	0.29742|0.29742	N|N	0.837049|0.837049	.|P;B	.|0.39480	.|0.675;0.024	.|B;B	.|0.34824	.|0.19;0.016	T|T	0.08310|0.08310	-1.0728|-1.0728	5|10	.|0.87932	.|D	.|0	.|.	7.6663|7.6663	0.28432|0.28432	0.3122:0.0:0.6878:0.0|0.3122:0.0:0.6878:0.0	.|.	.|1229;1349	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	E|R	397|1229;1349	.|ENSP00000413201:S1229R;ENSP00000281513:S1349R	.|ENSP00000281513:S1349R	A|S	-|-	2|3	0|2	NBAS|NBAS	15411170|15411170	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	1.726000|1.726000	0.38085|0.38085	0.825000|0.825000	0.34637|0.34637	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		47	105	1	0	1.57945e-13	0.002852	2.05425e-13	47	105				
WDR35	57539	broad.mit.edu	37	2	20173368	20173368	+	Missense_Mutation	SNP	C	C	A	rs372535372		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:20173368C>A	ENST00000345530.3	-	8	953	c.838G>T	c.(838-840)Gac>Tac	p.D280Y	WDR35_ENST00000281405.4_Missense_Mutation_p.D280Y|WDR35_ENST00000416055.2_5'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	280					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCTTTGTCCTGCATGGCT	0.453																																							uc002rdi.2		NA																	0				ovary(1)	1						c.(838-840)GAC>TAC		WD repeat domain 35 isoform 1							118.0	95.0	103.0					2																	20173368		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20173368C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.838G>T	2.37:g.20173368C>A	ENSP00000314444:p.Asp280Tyr					WDR35_uc002rdj.2_Missense_Mutation_p.D280Y|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	p.D280Y	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			8	946	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		280					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.838G>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969985	0.53614	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.59224	0.28;0.28	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);	0.336367	0.33346	N	0.005011	T	0.72961	0.3526	M	0.65498	2.005	0.80722	D	1	D;B	0.54207	0.965;0.356	P;B	0.62298	0.9;0.227	T	0.75572	-0.3271	10	0.62326	D	0.03	-19.0653	17.5909	0.87995	0.0:1.0:0.0:0.0	.	280;280	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	280	ENSP00000314444:D280Y;ENSP00000281405:D280Y	ENSP00000281405:D280Y	D	-	1	0	WDR35	20036849	1.000000	0.71417	0.955000	0.39395	0.038000	0.13279	7.752000	0.85141	2.478000	0.83669	0.411000	0.27672	GAC		0.453	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		12	48	1	0	4.3838e-07	0.001855	4.96386e-07	12	48				
PUM2	23369	broad.mit.edu	37	2	20482713	20482713	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:20482713G>A	ENST00000361078.2	-	11	1737	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	PUM2_ENST00000403432.1_Missense_Mutation_p.S572L|PUM2_ENST00000338086.5_Missense_Mutation_p.S572L|PUM2_ENST00000536417.1_Missense_Mutation_p.S516L|PUM2_ENST00000319801.5_Missense_Mutation_p.S572L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	572	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTACCTGATGAACCAAATCC	0.408																																							uc002rds.1		NA																	0				ovary(1)	1						c.(1714-1716)TCA>TTA		pumilio homolog 2							70.0	70.0	70.0					2																	20482713		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482713G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1715C>T	2.37:g.20482713G>A	ENSP00000354370:p.Ser572Leu					PUM2_uc002rdt.1_Missense_Mutation_p.S572L|PUM2_uc002rdr.2_Missense_Mutation_p.S511L|PUM2_uc010yjy.1_Missense_Mutation_p.S572L|PUM2_uc002rdu.1_Missense_Mutation_p.S572L|PUM2_uc010yjz.1_Missense_Mutation_p.S511L	p.S572L	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			11	1738	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		572			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1715C>T		.	.	.	.	.	.	.	.	.	.	G	23.3	4.393853	0.83011	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.20069	2.21;2.49;2.38;2.1;2.21;2.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.34521	1.04	0.80722	D	1	P;D;P	0.57899	0.599;0.981;0.516	B;D;B	0.69824	0.206;0.966;0.209	T	0.01762	-1.1279	10	0.10902	T	0.67	-12.657	18.3607	0.90374	0.0:0.0:1.0:0.0	.	516;572;572	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	L	572;572;572;463;572;516	ENSP00000338173:S572L;ENSP00000354370:S572L;ENSP00000326746:S572L;ENSP00000409905:S463L;ENSP00000385992:S572L;ENSP00000440093:S516L	ENSP00000326746:S572L	S	-	2	0	PUM2	20346194	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.487000	0.97945	2.777000	0.95525	0.655000	0.94253	TCA		0.408	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		17	27	0	0	0	0.006122	0	17	27				
C2orf43	60526	broad.mit.edu	37	2	20990127	20990127	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:20990127T>G	ENST00000237822.3	-	3	265	c.186A>C	c.(184-186)ccA>ccC	p.P62P	C2orf43_ENST00000419825.2_Silent_p.P62P|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000381090.3_Silent_p.P62P|C2orf43_ENST00000403006.2_5'UTR|C2orf43_ENST00000440866.2_Silent_p.P62P|C2orf43_ENST00000541941.1_5'UTR	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	62										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTTGCAAATGGCACATAAA	0.408																																							uc002rec.2		NA																	0					0						c.(184-186)CCA>CCC		hypothetical protein LOC60526							70.0	73.0	72.0					2																	20990127		2203	4300	6503	SO:0001819	synonymous_variant	60526							g.chr2:20990127T>G	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.186A>C	2.37:g.20990127T>G						C2orf43_uc002rea.1_Silent_p.P62P|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Silent_p.P62P|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron	p.P62P	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN			3	219	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		62					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Silent	SNP	ENST00000237822.3	37	c.186A>C	CCDS1702.1																																																																																				0.408	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		16	79	0	0	0	0.00499	0	16	79				
APOB	338	broad.mit.edu	37	2	21228598	21228598	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:21228598G>T	ENST00000233242.1	-	26	11269	c.11142C>A	c.(11140-11142)ccC>ccA	p.P3714P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3714					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATAGCCATTGGGGTTTTTGG	0.403																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11140-11142)CCC>CCA		apolipoprotein B precursor	Atorvastatin(DB01076)						98.0	96.0	96.0					2																	21228598		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228598G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11142C>A	2.37:g.21228598G>T							p.P3714P	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11270	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3714					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11142C>A	CCDS1703.1																																																																																				0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			50	28	1	0	3.86361e-14	0.00361	5.06934e-14	50	28				
APOB	338	broad.mit.edu	37	2	21230918	21230918	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:21230918G>A	ENST00000233242.1	-	26	8949	c.8822C>T	c.(8821-8823)aCa>aTa	p.T2941I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2941					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATTCATGTGTTCCCTCATC	0.438																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8821-8823)ACA>ATA		apolipoprotein B precursor	Atorvastatin(DB01076)						167.0	165.0	166.0					2																	21230918		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230918G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8822C>T	2.37:g.21230918G>A	ENSP00000233242:p.Thr2941Ile						p.T2941I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8950	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2941					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8822C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320640	0.41096	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01059	5.39	5.74	1.88	0.25563	.	0.335632	0.26013	N	0.026865	T	0.01320	0.0043	L	0.41824	1.3	0.80722	D	1	B	0.24533	0.105	B	0.19666	0.026	T	0.59883	-0.7370	10	0.44086	T	0.13	.	10.4697	0.44629	0.2645:0.0:0.7355:0.0	.	2941	P04114	APOB_HUMAN	I	2941	ENSP00000233242:T2941I	ENSP00000233242:T2941I	T	-	2	0	APOB	21084423	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.108000	0.50337	0.347000	0.23924	-0.291000	0.09656	ACA		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			92	73	0	0	0	0.00361	0	92	73				
ITSN2	50618	broad.mit.edu	37	2	24522911	24522911	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:24522911C>A	ENST00000355123.4	-	12	1654	c.1211G>T	c.(1210-1212)tGg>tTg	p.W404L	ITSN2_ENST00000406921.3_Missense_Mutation_p.W404L|ITSN2_ENST00000361999.3_Missense_Mutation_p.W404L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	404					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCGTTCCCACTCTTCCTT	0.453																																							uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1210-1212)TGG>TTG		intersectin 2 isoform 1							281.0	256.0	265.0					2																	24522911		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522911C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1211G>T	2.37:g.24522911C>A	ENSP00000347244:p.Trp404Leu					ITSN2_uc002rff.2_Missense_Mutation_p.W404L|ITSN2_uc002rfg.2_Missense_Mutation_p.W404L|ITSN2_uc010eyd.2_Missense_Mutation_p.W429L	p.W404L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			12	1469	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		404			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1211G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948323	0.34377	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.79749	0.45;0.46;0.45;0.92;-1.3	5.76	4.84	0.62591	.	0.493441	0.15025	U	0.284777	T	0.53238	0.1784	N	0.02539	-0.55	0.30019	N	0.814533	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.48980	-0.8986	10	0.10636	T	0.68	.	7.6306	0.28236	0.1439:0.7198:0.0:0.1363	.	404;404;404;404	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	L	404;404;404;428;404;429	ENSP00000354561:W404L;ENSP00000347244:W404L;ENSP00000370250:W404L;ENSP00000384499:W404L;ENSP00000391224:W429L	ENSP00000347244:W404L	W	-	2	0	ITSN2	24376415	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	0.853000	0.27777	2.894000	0.99253	0.591000	0.81541	TGG		0.453	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		40	143	1	0	3.43241e-23	0.009718	5.29369e-23	40	143				
ADCY3	109	broad.mit.edu	37	2	25064493	25064493	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:25064493C>A	ENST00000260600.5	-	4	1851	c.1000G>T	c.(1000-1002)Gcc>Tcc	p.A334S	ADCY3_ENST00000405392.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	334					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCACTGCAGGCAGAAGACAGC	0.622																																							uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(1000-1002)GCC>TCC		adenylate cyclase 3							54.0	52.0	53.0					2																	25064493		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25064493C>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1000G>T	2.37:g.25064493C>A	ENSP00000260600:p.Ala334Ser					ADCY3_uc002rfr.3_5'UTR|ADCY3_uc010ykm.1_Missense_Mutation_p.A334S	p.A334S	NM_004036	NP_004027	O60266	ADCY3_HUMAN			4	1199	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		334					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1000G>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900267	0.33535	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000435135;ENST00000433852	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.58	2.82	0.32997	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.237331	0.43416	D	0.000571	T	0.57873	0.2083	N	0.11000	0.08	0.58432	D	0.999994	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.42899	-0.9424	10	0.27082	T	0.32	.	4.1147	0.10076	0.2616:0.4944:0.0:0.2439	.	334;334	B7ZLX9;O60266	.;ADCY3_HUMAN	S	334;309;90;284;112	ENSP00000260600:A334S;ENSP00000399275:A90S;ENSP00000389799:A284S;ENSP00000401455:A112S	ENSP00000260600:A334S	A	-	1	0	ADCY3	24917997	0.208000	0.23494	0.871000	0.34182	0.998000	0.95712	0.894000	0.28350	0.711000	0.32018	0.655000	0.94253	GCC		0.622	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			6	30	1	0	8.12818e-05	0.001984	8.70909e-05	6	30				
KHK	3795	broad.mit.edu	37	2	27322662	27322662	+	3'UTR	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:27322662G>T	ENST00000260599.6	+	0	1454				KHK_ENST00000260598.5_3'UTR|CGREF1_ENST00000402550.1_Missense_Mutation_p.P130Q|CGREF1_ENST00000452318.2_Missense_Mutation_p.P110Q|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCATTGCGGCTGCATCGC	0.622																																							uc010ylf.1		NA																	0				ovary(1)	1						c.(328-330)CCG>CAG		SubName: Full=cDNA FLJ60367, weakly similar to Cell growth regulator with EF hand domain 1;							58.0	55.0	56.0					2																	27322662		2203	4299	6502	SO:0001624	3_prime_UTR_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27322662G>T		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.*44G>T	2.37:g.27322662G>T						KHK_uc002ril.2_3'UTR|KHK_uc002rim.2_3'UTR|KHK_uc002rin.2_3'UTR|KHK_uc002rio.2_3'UTR|CGREF1_uc002rip.1_3'UTR	p.P110Q			Q99674	CGRE1_HUMAN			7	961	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		208					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.329C>A	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	5.489	0.275246	0.10403	.	.	ENSG00000138028	ENST00000402550;ENST00000452318	T	0.54279	0.58	4.39	2.48	0.30137	.	.	.	.	.	T	0.29749	0.0743	N	0.08118	0	0.09310	N	1	B	0.31503	0.326	B	0.28385	0.089	T	0.18650	-1.0330	9	0.87932	D	0	.	7.2622	0.26209	0.0:0.1756:0.6134:0.211	.	110	E7EU99	.	Q	130;110	ENSP00000395042:P110Q	ENSP00000385103:P130Q	P	-	2	0	CGREF1	27176166	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-0.209000	0.09358	0.528000	0.28580	-0.410000	0.06199	CCG		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			10	11	1	0	0.00621372	0.006214	0.00637862	10	11				
SLC5A6	8884	broad.mit.edu	37	2	27430140	27430140	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:27430140T>A	ENST00000310574.3	-	3	852	c.379A>T	c.(379-381)Acc>Tcc	p.T127S	SLC5A6_ENST00000408041.1_Missense_Mutation_p.T127S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	127					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	TAGGCACTGGTGAGATGCAGG	0.577																																							uc002rjd.2		NA																	0				ovary(2)	2						c.(379-381)ACC>TCC		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						49.0	43.0	45.0					2																	27430140		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27430140T>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.379A>T	2.37:g.27430140T>A	ENSP00000310208:p.Thr127Ser					SLC5A6_uc010eyv.1_Missense_Mutation_p.T127S|SLC5A6_uc002rje.1_Missense_Mutation_p.T127S	p.T127S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			3	770	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		127					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.379A>T	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673618	0.47781	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106	D;D;D;D;T	0.87809	-2.3;-2.3;-2.3;-2.3;-1.0	5.67	4.47	0.54385	.	0.188554	0.46758	D	0.000271	T	0.79782	0.4505	L	0.28608	0.87	0.45108	D	0.998124	B	0.30889	0.299	B	0.33121	0.158	T	0.78583	-0.2148	10	0.49607	T	0.09	.	9.5312	0.39196	0.1894:0.0:0.0:0.8106	.	127	Q9Y289	SC5A6_HUMAN	S	127	ENSP00000310208:T127S;ENSP00000384853:T127S;ENSP00000403851:T127S;ENSP00000384265:T127S;ENSP00000411536:T127S	ENSP00000310208:T127S	T	-	1	0	SLC5A6	27283644	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.281000	0.51685	2.155000	0.67459	0.460000	0.39030	ACC		0.577	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		15	35	0	0	0	0.003163	0	15	35				
IFT172	26160	broad.mit.edu	37	2	27699522	27699522	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:27699522T>C	ENST00000260570.3	-	14	1500	c.1397A>G	c.(1396-1398)aAg>aGg	p.K466R	IFT172_ENST00000359466.6_Missense_Mutation_p.K466R|RNU6-986P_ENST00000363133.1_RNA|IFT172_ENST00000416524.2_Missense_Mutation_p.K445R	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	466					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGCAATAGTCTTAATATCAAT	0.348																																							uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1396-1398)AAG>AGG		selective LIM binding factor homolog							88.0	93.0	91.0					2																	27699522		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27699522T>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1397A>G	2.37:g.27699522T>C	ENSP00000260570:p.Lys466Arg					IFT172_uc002rkw.2_Missense_Mutation_p.K466R|IFT172_uc010yls.1_Missense_Mutation_p.K445R|IFT172_uc010ezc.2_Missense_Mutation_p.K466R|IFT172_uc002rkv.2_Missense_Mutation_p.K440R	p.K466R	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			14	1448	-	Acute lymphoblastic leukemia(172;0.155)		466					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1397A>G	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910848	0.52439	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.32272	3.45;1.46;1.46	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.63169	1.94	0.80722	D	1	B;B;B;B	0.26902	0.021;0.163;0.038;0.019	B;B;B;B	0.24974	0.02;0.057;0.013;0.036	T	0.06991	-1.0796	10	0.25751	T	0.34	-21.5209	14.8891	0.70594	0.0:0.0:0.0:1.0	.	466;466;440;466	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	R	466;466;445	ENSP00000260570:K466R;ENSP00000352443:K466R;ENSP00000407408:K445R	ENSP00000260570:K466R	K	-	2	0	IFT172	27553026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.406000	0.80017	2.192000	0.70111	0.455000	0.32223	AAG		0.348	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		24	52	0	0	0	0.005443	0	24	52				
ALK	238	broad.mit.edu	37	2	29443605	29443605	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:29443605G>C	ENST00000389048.3	-	23	4518	c.3612C>G	c.(3610-3612)ctC>ctG	p.L1204L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGAAGGACTTGAGGTCTCCCC	0.587			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(3610-3612)CTC>CTG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						46.0	46.0	46.0					2																	29443605		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443605G>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3612C>G	2.37:g.29443605G>C						ALK_uc010ymo.1_Silent_p.L136L	p.L1204L	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			23	4519	-	Acute lymphoblastic leukemia(172;0.155)		1204			Protein kinase.|Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.3612C>G	CCDS33172.1																																																																																				0.587	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	17	0	0	0	0.001368	0	11	17				
ALK	238	broad.mit.edu	37	2	29474108	29474108	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:29474108C>A	ENST00000389048.3	-	12	2973	c.2067G>T	c.(2065-2067)ggG>ggT	p.G689G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	689					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCCCGCTGGCCCCACATGTGG	0.657			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2065-2067)GGG>GGT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						34.0	37.0	36.0					2																	29474108		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474108C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2067G>T	2.37:g.29474108C>A							p.G689G	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			12	2974	-	Acute lymphoblastic leukemia(172;0.155)		689			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.2067G>T	CCDS33172.1																																																																																				0.657	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		15	21	1	0	6.31663e-08	0.003163	7.33275e-08	15	21				
NLRC4	58484	broad.mit.edu	37	2	32474721	32474722	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:32474721_32474722GG>TT	ENST00000404025.2	-	5	2699_2700	c.2211_2212CC>AA	c.(2209-2214)aaCCtg>aaAAtg	p.737_738NL>KM	NLRC4_ENST00000360906.5_Missense_Mutation_p.737_738NL>KM|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.737_738NL>KM			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	737					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGGTTTTCAGGTTTGTTACAG	0.411																																							uc002roi.2		NA																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(2209-2214)AACCTG>AAAATG		caspase recruitment domain protein 12																																				SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474721_32474722GG>TT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2211_2212delinsTT	2.37:g.32474721_32474722delinsTT	ENSP00000385090:p.N737_L738delinsKM					NLRC4_uc002roj.1_Missense_Mutation_p.737_738NL>KM|NLRC4_uc010ezt.1_Intron	p.737_738NL>KM	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	2457_2458	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		737_738			LRR 5.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	DNP	ENST00000404025.2	37	c.2211_2212CC>AA	CCDS33174.1																																																																																				0.411	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		60	117	0	0	0	0.004672	0	60	117				
LTBP1	4052	broad.mit.edu	37	2	33246008	33246008	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:33246008A>T	ENST00000404816.2	+	3	951	c.598A>T	c.(598-600)Atg>Ttg	p.M200L	LTBP1_ENST00000354476.3_Missense_Mutation_p.M200L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	200	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAATGGAGGGATGTGTCTCCG	0.493																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(598-600)ATG>TTG		latent transforming growth factor beta binding							193.0	198.0	196.0					2																	33246008		2203	4299	6502	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246008A>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.598A>T	2.37:g.33246008A>T	ENSP00000386043:p.Met200Leu						p.M200L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			3	598	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	200			EGF-like 1.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.598A>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711939	0.30322	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	D;D	0.91068	-2.78;-2.78	4.8	4.8	0.61643	.	.	.	.	.	T	0.80048	0.4552	N	0.05330	-0.07	0.80722	D	1	B	0.20671	0.047	B	0.21151	0.033	T	0.74957	-0.3487	9	0.12766	T	0.61	.	14.6676	0.68921	1.0:0.0:0.0:0.0	.	200	Q14766-4	.	L	200	ENSP00000386043:M200L;ENSP00000346467:M200L	ENSP00000346467:M200L	M	+	1	0	LTBP1	33099512	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.366000	0.73095	1.913000	0.55393	0.519000	0.50382	ATG		0.493	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		76	206	0	0	0	0.00361	0	76	206				
SULT6B1	391365	broad.mit.edu	37	2	37406604	37406604	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:37406604G>T	ENST00000535679.1	-	4	525	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.Q138K|SULT6B1_ENST00000407963.1_Missense_Mutation_p.Q138K			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	176						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GCCATACCTTGTCCTTTCATG	0.373																																							uc002rpu.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(412-414)CAA>AAA		sulfotransferase family, cytosolic, 6B, member							151.0	143.0	146.0					2																	37406604		2203	4300	6503	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37406604G>T	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.526C>A	2.37:g.37406604G>T	ENSP00000444081:p.Gln176Lys					SULT6B1_uc010yni.1_RNA	p.Q138K	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN			4	433	-		all_hematologic(82;0.248)	176					B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.412C>A		.	.	.	.	.	.	.	.	.	.	G	1.053	-0.675226	0.03378	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	D;D;D	0.81821	-1.54;-1.54;-1.54	4.27	2.33	0.28932	Sulfotransferase domain (1);	0.311103	0.31415	N	0.007686	T	0.47544	0.1451	N	0.01464	-0.85	0.28121	N	0.930595	B	0.15930	0.015	B	0.17979	0.02	T	0.46978	-0.9152	10	0.02654	T	1	.	7.1338	0.25517	0.0:0.3084:0.3762:0.3154	.	176	Q6IMI4	ST6B1_HUMAN	K	176;138;138	ENSP00000444081:Q176K;ENSP00000260637:Q138K;ENSP00000384950:Q138K	ENSP00000260637:Q138K	Q	-	1	0	SULT6B1	37260108	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.537000	0.23144	0.475000	0.27415	0.561000	0.74099	CAA		0.373	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		32	38	1	0	4.3181e-19	0.002836	6.26967e-19	32	38				
RPLP0P6	220717	broad.mit.edu	37	2	38709678	38709678	+	lincRNA	SNP	C	C	T	rs372176824		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:38709678C>T	ENST00000417039.1	-	0	696																											TGTCTGCAGACTGGCTACCCA	0.512																																							uc002rqu.1		NA																	0					NA						c.(499-501)GAC>GAT		SubName: Full=RPLP0 protein;																																						0							g.chr2:38709678C>T																													2.37:g.38709678C>T							p.D167D							2	568	+									Silent	SNP	ENST00000417039.1	37	c.501C>T																																																																																					0.512	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			4	47	0	0	0	0.000602	0	4	47				
ABCG8	64241	broad.mit.edu	37	2	44100976	44100976	+	Missense_Mutation	SNP	G	G	C	rs376999484		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:44100976G>C	ENST00000272286.2	+	9	1352	c.1262G>C	c.(1261-1263)gGg>gCg	p.G421A		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	421	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCATCCATGGGGCGGAGGCC	0.537																																							uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(1261-1263)GGG>GCG		ATP-binding cassette sub-family G member 8							203.0	201.0	201.0					2																	44100976		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44100976G>C	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1262G>C	2.37:g.44100976G>C	ENSP00000272286:p.Gly421Ala					ABCG8_uc010yoa.1_Missense_Mutation_p.G420A	p.G421A	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			9	1352	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	421			Helical; Name=1; (Potential).|ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1262G>C	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508196	0.27036	.	.	ENSG00000143921	ENST00000272286	T	0.70749	-0.51	5.16	2.28	0.28536	ABC-2 type transporter (1);	0.191677	0.56097	N	0.000033	T	0.68851	0.3046	M	0.68317	2.08	0.58432	D	0.999998	B;B	0.23442	0.069;0.085	B;B	0.31686	0.082;0.134	T	0.63998	-0.6510	10	0.48119	T	0.1	.	11.7577	0.51884	0.0:0.2353:0.6357:0.129	.	420;421	Q9H221-2;Q9H221	.;ABCG8_HUMAN	A	421	ENSP00000272286:G421A	ENSP00000272286:G421A	G	+	2	0	ABCG8	43954480	1.000000	0.71417	0.015000	0.15790	0.541000	0.35023	5.077000	0.64419	0.172000	0.19760	0.561000	0.74099	GGG		0.537	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		89	117	0	0	0	0.00361	0	89	117				
PPM1B	5495	broad.mit.edu	37	2	44457644	44457644	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:44457644A>T	ENST00000282412.4	+	6	1639	c.1227A>T	c.(1225-1227)caA>caT	p.Q409H	PPM1B_ENST00000345249.4_Missense_Mutation_p.Q122H|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	409					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTACCGACAACTTCTGGAGG	0.468																																							uc002rtt.2		NA																	0				kidney(1)|skin(1)	2						c.(1225-1227)CAA>CAT		protein phosphatase 1B isoform 1							83.0	86.0	85.0					2																	44457644		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44457644A>T	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1227A>T	2.37:g.44457644A>T	ENSP00000282412:p.Gln409His					PPM1B_uc002rtu.2_3'UTR|PPM1B_uc002rtv.2_Missense_Mutation_p.Q122H|PPM1B_uc002rtw.2_Intron|PPM1B_uc002rtx.2_Intron	p.Q409H	NM_002706	NP_002697	O75688	PPM1B_HUMAN			6	1655	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	409					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1227A>T	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470611	0.26423	.	.	ENSG00000138032	ENST00000282412;ENST00000345249	T	0.23348	1.91	5.19	-0.578	0.11724	.	0.276742	0.35466	N	0.003192	T	0.12944	0.0314	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.30854	T	0.27	-7.4372	6.0759	0.19915	0.4264:0.3046:0.269:0.0	.	409	O75688	PPM1B_HUMAN	H	409;122	ENSP00000282412:Q409H	ENSP00000282412:Q409H	Q	+	3	2	PPM1B	44311148	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.801000	0.27055	-0.031000	0.13781	0.482000	0.46254	CAA		0.468	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		38	36	0	0	0	0.003755	0	38	36				
SIX3	6496	broad.mit.edu	37	2	45169558	45169558	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:45169558C>G	ENST00000260653.3	+	1	657	c.315C>G	c.(313-315)atC>atG	p.I105M	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	105	Interaction with AES. {ECO:0000250|UniProtKB:Q62233}.		I -> V (in HPE2; mildly decreased repression activity on BMP2). {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGGCGACATCGAGCGGCTGG	0.697																																							uc002run.1		NA																	0					0						c.(313-315)ATC>ATG		SIX homeobox 3							10.0	13.0	12.0					2																	45169558		1843	3872	5715	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169558C>G	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.315C>G	2.37:g.45169558C>G	ENSP00000260653:p.Ile105Met						p.I105M	NM_005413	NP_005404	O95343	SIX3_HUMAN			1	522	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	105		I -> V (in HPE2).			D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.315C>G	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752860	0.15778	.	.	ENSG00000138083	ENST00000260653	D	0.97186	-4.28	2.79	-0.307	0.12777	.	0.000000	0.64402	U	0.000001	D	0.93880	0.8042	M	0.68593	2.085	0.46241	D	0.99894	P	0.43701	0.815	B	0.41440	0.357	D	0.87053	0.2148	10	0.56958	D	0.05	.	1.1599	0.01803	0.2781:0.401:0.1442:0.1767	.	105	O95343	SIX3_HUMAN	M	105	ENSP00000260653:I105M	ENSP00000260653:I105M	I	+	3	3	SIX3	45023062	0.995000	0.38212	0.862000	0.33874	0.070000	0.16714	0.454000	0.21827	-0.395000	0.07715	-0.529000	0.04317	ATC		0.697	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		24	8	0	0	0	0.00333	0	24	8				
FSHR	2492	broad.mit.edu	37	2	49190604	49190604	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:49190604G>T	ENST00000406846.2	-	10	1475	c.1356C>A	c.(1354-1356)gcC>gcA	p.A452A	FSHR_ENST00000304421.4_Silent_p.A426A|FSHR_ENST00000541117.1_Silent_p.A188A|FSHR_ENST00000346173.3_Silent_p.A390A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	452					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ACAGCTCACTGGCAAAGACAG	0.507									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1354-1356)GCC>GCA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						77.0	74.0	75.0					2																	49190604		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190604G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1356C>A	2.37:g.49190604G>T						FSHR_uc002rwx.2_Silent_p.A390A|FSHR_uc010fbn.2_Silent_p.A426A	p.A452A	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1430	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	452			Helical; Name=3; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1356C>A	CCDS1843.1																																																																																				0.507	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			12	35	1	0	0.00010058	0.001368	0.000107352	12	35				
FSHR	2492	broad.mit.edu	37	2	49381474	49381474	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:49381474C>A	ENST00000406846.2	-	1	202	c.83G>T	c.(82-84)aGg>aTg	p.R28M	FSHR_ENST00000304421.4_Missense_Mutation_p.R28M|FSHR_ENST00000346173.3_Missense_Mutation_p.R28M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	28	LRRNT.				female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GAGAAAAACCCTGTTAGAGCA	0.512									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(82-84)AGG>ATG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						76.0	78.0	77.0					2																	49381474		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381474C>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.83G>T	2.37:g.49381474C>A	ENSP00000384708:p.Arg28Met					FSHR_uc002rwx.2_Missense_Mutation_p.R28M|FSHR_uc010fbn.2_Missense_Mutation_p.R28M|FSHR_uc010fbo.1_RNA	p.R28M	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	157	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	28			LRRNT.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.83G>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179323	0.57800	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	5.46	3.63	0.41609	Leucine-rich repeat-containing N-terminal (2);	0.607049	0.18040	N	0.153640	D	0.96800	0.8955	M	0.75264	2.295	0.27379	N	0.955466	D;D;P	0.63046	0.992;0.97;0.948	P;P;P	0.59171	0.853;0.572;0.621	D	0.91949	0.5569	9	.	.	.	.	7.586	0.27993	0.0:0.8035:0.0:0.1965	.	28;28;28	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	M	28	ENSP00000384708:R28M;ENSP00000333908:R28M;ENSP00000306780:R28M;ENSP00000415504:R28M	.	R	-	2	0	FSHR	49234978	0.610000	0.26983	0.459000	0.27081	0.997000	0.91878	1.250000	0.32850	0.824000	0.34613	0.655000	0.94253	AGG		0.512	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			19	24	1	0	1.33834e-09	0.007413	1.60767e-09	19	24				
NRXN1	9378	broad.mit.edu	37	2	50170875	50170875	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50170875T>A	ENST00000406316.2	-	21	5569	c.4093A>T	c.(4093-4095)Att>Ttt	p.I1365F	NRXN1_ENST00000401669.2_Missense_Mutation_p.I1395F|NRXN1_ENST00000342183.5_Missense_Mutation_p.I330F|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1387F|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1365F|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1387F|NRXN1_ENST00000404971.1_Missense_Mutation_p.I1435F|NRXN1_ENST00000401710.1_Missense_Mutation_p.I383F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1365					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGGGGTCAATGTCCTCATCA	0.423																																							uc010fbp.2		NA																	0				ovary(2)	2						c.(988-990)ATT>TTT		neurexin 1 isoform beta precursor							73.0	65.0	67.0					2																	50170875		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50170875T>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4093A>T	2.37:g.50170875T>A	ENSP00000384311:p.Ile1365Phe					NRXN1_uc002rxb.3_Missense_Mutation_p.I1067F|NRXN1_uc010fbq.2_Missense_Mutation_p.I1435F|NRXN1_uc002rxe.3_Missense_Mutation_p.I1365F|NRXN1_uc010yon.1_Missense_Mutation_p.I30F|NRXN1_uc002rxa.3_Missense_Mutation_p.I30F	p.I330F	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		5	1795	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	330			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.988A>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.18|14.18	2.458961|2.458961	0.43634|0.43634	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.|T;T;T;T;T;T;T;T	.|0.71341	.|0.95;2.15;0.15;0.11;-0.56;-0.44;-0.15;-0.02	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.53938	.|U	.|0.000051	T|T	0.75583|0.75583	0.3869|0.3869	L|L	0.33137|0.33137	0.985|0.985	0.49798|0.49798	D|D	0.999825|0.999825	.|B;P;B;P;D;D	.|0.54772	.|0.299;0.89;0.005;0.837;0.968;0.96	.|B;P;B;P;P;D	.|0.66979	.|0.167;0.574;0.009;0.541;0.598;0.948	T|T	0.71833|0.71833	-0.4473|-0.4473	5|10	.|0.22706	.|T	.|0.39	.|.	16.1708|16.1708	0.81812|0.81812	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|30;1435;330;1365;1387;30	.|B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0	.|.;.;NRX1B_HUMAN;.;.;.	L|F	31|330;284;383;1435;1365;1387;1395;1436;1387;1365	.|ENSP00000341184:I330F;ENSP00000385580:I383F;ENSP00000385142:I1435F;ENSP00000384311:I1365F;ENSP00000434015:I1387F;ENSP00000385017:I1395F;ENSP00000385434:I1387F;ENSP00000385681:I1365F	.|ENSP00000341184:I330F	H|I	-|-	2|1	0|0	NRXN1|NRXN1	50024379|50024379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.131000|6.131000	0.71670|0.71670	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.423	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			8	7	0	0	0	0.008291	0	8	7				
NRXN1	9378	broad.mit.edu	37	2	50318579	50318579	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50318579A>G	ENST00000406316.2	-	19	5076	c.3600T>C	c.(3598-3600)atT>atC	p.I1200I	NRXN1_ENST00000401669.2_Silent_p.I1200I|NRXN1_ENST00000342183.5_Silent_p.I165I|NRXN1_ENST00000405472.3_Silent_p.I1192I|NRXN1_ENST00000406859.3_Silent_p.I1200I|NRXN1_ENST00000402717.3_Silent_p.I1192I|NRXN1_ENST00000404971.1_Silent_p.I1240I|NRXN1_ENST00000401710.1_Silent_p.I218I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1200	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGATTCTTCAATGGCGATGT	0.438																																							uc010fbp.2		NA																	0				ovary(2)	2						c.(493-495)ATT>ATC		neurexin 1 isoform beta precursor							202.0	172.0	182.0					2																	50318579		2203	4300	6503	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50318579A>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3600T>C	2.37:g.50318579A>G						NRXN1_uc002rxb.3_Silent_p.I872I|NRXN1_uc010fbq.2_Silent_p.I1240I|NRXN1_uc002rxe.3_Silent_p.I1200I	p.I165I	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		3	1302	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	165			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.495T>C	CCDS54360.1																																																																																				0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			50	55	0	0	0	0.00361	0	50	55				
NRXN1	9378	broad.mit.edu	37	2	50318602	50318602	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50318602C>A	ENST00000406316.2	-	19	5053	c.3577G>T	c.(3577-3579)Gtt>Ttt	p.V1193F	NRXN1_ENST00000401669.2_Missense_Mutation_p.V1193F|NRXN1_ENST00000342183.5_Missense_Mutation_p.V158F|NRXN1_ENST00000405472.3_Missense_Mutation_p.V1185F|NRXN1_ENST00000406859.3_Missense_Mutation_p.V1193F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V1185F|NRXN1_ENST00000404971.1_Missense_Mutation_p.V1233F|NRXN1_ENST00000401710.1_Missense_Mutation_p.V211F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1193	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTGTCCCAACATTAAACTTA	0.388																																							uc010fbp.2		NA																	0				ovary(2)	2						c.(472-474)GTT>TTT		neurexin 1 isoform beta precursor							153.0	136.0	142.0					2																	50318602		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50318602C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3577G>T	2.37:g.50318602C>A	ENSP00000384311:p.Val1193Phe					NRXN1_uc002rxb.3_Missense_Mutation_p.V865F|NRXN1_uc010fbq.2_Missense_Mutation_p.V1233F|NRXN1_uc002rxe.3_Missense_Mutation_p.V1193F	p.V158F	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		3	1279	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	158	V -> I (in Ref. 1; AF064842).		Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.472G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833211	0.71258	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.47455	U	0.000222	D	0.85762	0.5772	L	0.57536	1.79	0.58432	D	0.99999	P;P;D;D	0.63880	0.717;0.95;0.993;0.991	B;P;P;P	0.62184	0.382;0.589;0.789;0.899	D	0.85573	0.1235	10	0.56958	D	0.05	.	19.9015	0.96985	0.0:1.0:0.0:0.0	.	1233;158;1193;1185	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	F	158;112;211;1233;1193;1185;1193;1234;1185;1193	ENSP00000341184:V158F;ENSP00000385580:V211F;ENSP00000385142:V1233F;ENSP00000384311:V1193F;ENSP00000434015:V1185F;ENSP00000385017:V1193F;ENSP00000385434:V1185F;ENSP00000385681:V1193F	ENSP00000341184:V158F	V	-	1	0	NRXN1	50172106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.706000	0.92434	0.563000	0.77884	GTT		0.388	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			25	62	1	0	7.92952e-12	0.003954	9.99719e-12	25	62				
NRXN1	9378	broad.mit.edu	37	2	50779845	50779845	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50779845C>A	ENST00000406316.2	-	9	3115	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	NRXN1_ENST00000401669.2_Missense_Mutation_p.D547Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.D539Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.D547Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.D539Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.D587Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	547	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGTGGCCATCTAGCATCTCA	0.438																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(1759-1761)GAT>TAT		neurexin 1 isoform alpha2 precursor							164.0	150.0	155.0					2																	50779845		1914	4126	6040	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50779845C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1639G>T	2.37:g.50779845C>A	ENSP00000384311:p.Asp547Tyr					NRXN1_uc002rxb.3_Missense_Mutation_p.D219Y|NRXN1_uc002rxe.3_Missense_Mutation_p.D547Y|NRXN1_uc002rxc.1_RNA	p.D587Y	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	3236	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1759G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632492	0.87660	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	M	0.83774	2.66	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.997	D	0.87135	0.2199	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	587;547;539	Q9ULB1-3;F8WB18;A7E294	.;.;.	Y	587;547;539;547;588;539;547	ENSP00000385142:D587Y;ENSP00000384311:D547Y;ENSP00000434015:D539Y;ENSP00000385017:D547Y;ENSP00000385434:D539Y;ENSP00000385681:D547Y	ENSP00000385017:D547Y	D	-	1	0	NRXN1	50633349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.764000	0.85297	2.814000	0.96858	0.591000	0.81541	GAT		0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			63	41	1	0	1.53716e-24	0.00361	2.4209e-24	63	41				
NRXN1	9378	broad.mit.edu	37	2	50850543	50850543	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:50850543G>C	ENST00000406316.2	-	6	2519	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.S348*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.S348*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.S348*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.S348*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.S381*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	348	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAGGCCCCTGATCCCAAATT	0.463																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(1141-1143)TCA>TGA		neurexin 1 isoform alpha2 precursor							114.0	108.0	110.0					2																	50850543		1896	4128	6024	SO:0001587	stop_gained	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850543G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1043C>G	2.37:g.50850543G>C	ENSP00000384311:p.Ser348*					NRXN1_uc002rxb.3_Nonsense_Mutation_p.S28*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.S348*|NRXN1_uc002rxc.1_RNA	p.S381*	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2619	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.1142C>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	48	14.476898	0.99797	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.9037	0.96999	0.0:0.0:1.0:0.0	.	.	.	.	X	381;348;348;348;382;348;348	.	ENSP00000385017:S348X	S	-	2	0	NRXN1	50704047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.708000	0.92522	0.557000	0.71058	TCA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	106	0	0	0	0.000602	0	5	106				
NRXN1	9378	broad.mit.edu	37	2	51254659	51254659	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:51254659G>T	ENST00000406316.2	-	2	2229	c.753C>A	c.(751-753)cgC>cgA	p.R251R	NRXN1_ENST00000401669.2_Silent_p.R251R|NRXN1_ENST00000405472.3_Silent_p.R251R|NRXN1_ENST00000406859.3_Silent_p.R251R|NRXN1_ENST00000402717.3_Silent_p.R251R|NRXN1_ENST00000404971.1_Silent_p.R251R|NRXN1_ENST00000405581.1_Silent_p.R251R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	251	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTCCTTGCCGCGGAAGCCGG	0.746																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(751-753)CGC>CGA		neurexin 1 isoform alpha2 precursor							14.0	17.0	16.0					2																	51254659		2067	4154	6221	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254659G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.753C>A	2.37:g.51254659G>T						NRXN1_uc002rxe.3_Silent_p.R251R|NRXN1_uc002rxd.1_Silent_p.R251R	p.R251R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2230	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.753C>A	CCDS54360.1																																																																																				0.746	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			16	17	1	0	2.39187e-15	0.008871	3.23488e-15	16	17				
PNPT1	87178	broad.mit.edu	37	2	55921012	55921012	+	5'UTR	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:55921012A>T	ENST00000447944.2	-	0	33					NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACTCCGCAGACCGTGGGGCG	0.662																																							uc002rzf.2		NA																	0					0						c.e1-1		polyribonucleotide nucleotidyltransferase 1																																				SO:0001623	5_prime_UTR_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55921012A>T	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.-54T>A	2.37:g.55921012A>T						PNPT1_uc002rzg.2_Splice_Site		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	1	-								Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Splice_Site	SNP	ENST00000447944.2	37	c.-52_splice	CCDS1856.1																																																																																				0.662	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		10	7	0	0	0	0.006214	0	10	7				
KIAA1841	84542	broad.mit.edu	37	2	61333783	61333783	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:61333783G>T	ENST00000402291.1	+	14	1838	c.1597G>T	c.(1597-1599)Ggg>Tgg	p.G533W	KIAA1841_ENST00000453873.1_Missense_Mutation_p.G533W|KIAA1841_ENST00000295031.5_Missense_Mutation_p.G533W|KIAA1841_ENST00000356719.2_Missense_Mutation_p.G533W	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	533										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TCCCAAAACTGGGGAGCTCAA	0.358																																							uc002saw.3		NA																	0					0						c.(1597-1599)GGG>TGG		KIAA1841 protein isoform a							124.0	136.0	132.0					2																	61333783		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61333783G>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1597G>T	2.37:g.61333783G>T	ENSP00000385579:p.Gly533Trp					KIAA1841_uc002sax.3_Missense_Mutation_p.G387W|KIAA1841_uc002say.2_Missense_Mutation_p.G533W	p.G533W	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		14	1900	+			533					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1597G>T	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650033	0.67472	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.65975	2.015	0.51767	D	0.999934	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.79983	-0.1573	9	0.72032	D	0.01	-14.3613	18.2547	0.90015	0.0:0.0:1.0:0.0	.	533;533	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	W	533	.	ENSP00000295031:G533W	G	+	1	0	KIAA1841	61187287	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.010000	0.76353	2.670000	0.90874	0.585000	0.79938	GGG		0.358	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		37	50	1	0	9.45814e-24	0.004878	1.47517e-23	37	50				
ZNF638	27332	broad.mit.edu	37	2	71576910	71576910	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:71576910G>T	ENST00000409544.1	+	2	1456	c.826G>T	c.(826-828)Ggt>Tgt	p.G276C	ZNF638_ENST00000377802.2_Missense_Mutation_p.G276C|ZNF638_ENST00000355812.3_Missense_Mutation_p.G276C|ZNF638_ENST00000264447.4_Missense_Mutation_p.G276C|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	276					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGACTTCCCCGGTGAGTCCTC	0.433																																							uc002shx.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(826-828)GGT>TGT		zinc finger protein 638							143.0	139.0	140.0					2																	71576910		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71576910G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.826G>T	2.37:g.71576910G>T	ENSP00000386433:p.Gly276Cys					ZNF638_uc010fec.2_Missense_Mutation_p.G382C|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.G276C|ZNF638_uc002shy.2_Missense_Mutation_p.G276C|ZNF638_uc002shz.2_Missense_Mutation_p.G276C|ZNF638_uc002sia.2_Missense_Mutation_p.G276C|ZNF638_uc002sib.1_Missense_Mutation_p.G276C	p.G276C	NM_014497	NP_055312	Q14966	ZN638_HUMAN			2	1145	+			276					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.826G>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730916	0.30684	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74209	-0.23;-0.82;0.36;-0.22;1.37;1.37	5.84	-5.54	0.02544	.	0.981479	0.08408	N	0.950334	T	0.72078	0.3416	N	0.24115	0.695	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.993;0.998;0.996;0.982	D;P;P;P;P	0.64687	0.928;0.809;0.809;0.648;0.809	T	0.68401	-0.5418	10	0.59425	D	0.04	0.2774	10.7282	0.46081	0.244:0.1335:0.6226:0.0	.	382;276;276;276;276	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	C	276;382;276;276;276;276	ENSP00000386669:G276C;ENSP00000438189:G382C;ENSP00000348066:G276C;ENSP00000367033:G276C;ENSP00000264447:G276C;ENSP00000386433:G276C	ENSP00000264447:G276C	G	+	1	0	ZNF638	71430418	0.000000	0.05858	0.058000	0.19502	0.882000	0.50991	-0.038000	0.12144	-1.118000	0.02961	-0.768000	0.03414	GGT		0.433	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		44	67	1	0	9.39024e-22	0.009718	1.42773e-21	44	67				
ALMS1	7840	broad.mit.edu	37	2	73826635	73826635	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:73826635G>T	ENST00000264448.6	+	17	11763	c.11652G>T	c.(11650-11652)aaG>aaT	p.K3884N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K3842N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3884					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTTAAACAAGGGCATACAAG	0.343																																							uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11656-11658)AAG>AAT		Alstrom syndrome 1							167.0	149.0	154.0					2																	73826635		1846	4101	5947	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73826635G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11652G>T	2.37:g.73826635G>T	ENSP00000264448:p.Lys3884Asn					ALMS1_uc002sjf.1_Missense_Mutation_p.K3842N|ALMS1_uc002sjh.1_Missense_Mutation_p.K3272N	p.K3886N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			19	11769	+			3884					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11658G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222004	0.58560	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.18174	2.23;2.23	4.83	2.99	0.34606	.	0.000000	0.56097	D	0.000024	T	0.29882	0.0747	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.02519	-1.1147	10	0.87932	D	0	.	7.5745	0.27928	0.1995:0.0:0.8005:0.0	.	3842;3884	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	N	3842;3884	ENSP00000386627:K3842N;ENSP00000264448:K3884N	ENSP00000264448:K3884N	K	+	3	2	ALMS1	73680143	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	0.422000	0.21296	1.271000	0.44313	0.650000	0.86243	AAG		0.343	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		18	70	1	0	1.99824e-07	0.00499	2.29081e-07	18	70				
C2orf78	388960	broad.mit.edu	37	2	74043870	74043870	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:74043870G>A	ENST00000409561.1	+	3	2641	c.2520G>A	c.(2518-2520)aaG>aaA	p.K840K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	840										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CACTGCCCAAGCCTCAAAATC	0.517																																							uc002sjr.1		NA																	0				ovary(2)	2						c.(2518-2520)AAG>AAA		hypothetical protein LOC388960							102.0	98.0	100.0					2																	74043870		1936	4151	6087	SO:0001819	synonymous_variant	388960							g.chr2:74043870G>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2520G>A	2.37:g.74043870G>A							p.K840K	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2641	+			840						Silent	SNP	ENST00000409561.1	37	c.2520G>A	CCDS46338.1																																																																																				0.517	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		33	44	0	0	0	0.003755	0	33	44				
WDR54	84058	broad.mit.edu	37	2	74654377	74654377	+	IGR	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:74654377C>T	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Missense_Mutation_p.E414K|RTKN_ENST00000233330.6_Missense_Mutation_p.E377K|RTKN_ENST00000272430.5_Missense_Mutation_p.E427K	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TTCATGATTTCATCACAGCAC	0.493																																							uc002sle.2		NA																	0				skin(1)	1						c.(1279-1281)GAA>AAA		rhotekin isoform a							108.0	107.0	107.0					2																	74654377		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654377C>T	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654377C>T						RTKN_uc002slc.2_Missense_Mutation_p.E414K|RTKN_uc002sld.2_Missense_Mutation_p.E377K	p.E427K	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN			11	1396	-			427					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1279G>A	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137397	0.77775	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.79141	-1.24;-1.24;-1.24	4.68	4.68	0.58851	.	0.108689	0.64402	D	0.000010	T	0.76321	0.3971	L	0.34521	1.04	0.58432	D	0.999996	D;D	0.57571	0.965;0.98	P;P	0.53912	0.55;0.737	T	0.73100	-0.4089	10	0.24483	T	0.36	.	15.1232	0.72460	0.0:1.0:0.0:0.0	.	427;414	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	K	414;427;377	ENSP00000305298:E414K;ENSP00000272430:E427K;ENSP00000233330:E377K	ENSP00000233330:E377K	E	-	1	0	RTKN	74507885	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.928000	0.75846	2.433000	0.82419	0.484000	0.47621	GAA		0.493	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		22	39	0	0	0	0.010504	0	22	39				
DOK1	1796	broad.mit.edu	37	2	74784174	74784174	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:74784174G>T	ENST00000233668.5	+	5	2048	c.1379G>T	c.(1378-1380)aGc>aTc	p.S460I	DOK1_ENST00000409429.1_Missense_Mutation_p.S321I|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	460					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTCAGGGAGCTGGGACTGT	0.602																																					Esophageal Squamous(36;520 860 12502 33616 51270)	Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.2		NA																	0					0						c.(1378-1380)AGC>ATC		docking protein 1							47.0	52.0	50.0					2																	74784174		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74784174G>T	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1379G>T	2.37:g.74784174G>T	ENSP00000233668:p.Ser460Ile					DOK1_uc002smr.2_Missense_Mutation_p.S321I|DOK1_uc010ffo.2_Missense_Mutation_p.S321I|DOK1_uc002smt.2_Missense_Mutation_p.S246I|DOK1_uc002smu.2_Missense_Mutation_p.S246I|DOK1_uc010yrz.1_Missense_Mutation_p.S449I|DOK1_uc002smv.2_Missense_Mutation_p.S321I|DOK1_uc002smw.1_Missense_Mutation_p.S246I	p.S460I	NM_001381	NP_001372	Q99704	DOK1_HUMAN			5	1401	+			460					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.1379G>T	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	4.915	0.170074	0.09339	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.32515	1.45;1.46	5.25	2.48	0.30137	.	0.880922	0.10177	N	0.706313	T	0.20292	0.0488	L	0.27053	0.805	0.34855	D	0.742025	B;B	0.29716	0.255;0.037	B;B	0.24269	0.052;0.032	T	0.16660	-1.0395	10	0.59425	D	0.04	-0.9582	7.1164	0.25418	0.1599:0.1417:0.6984:0.0	.	449;460	B4DJN1;Q99704	.;DOK1_HUMAN	I	321;460	ENSP00000387016:S321I;ENSP00000233668:S460I	ENSP00000233668:S460I	S	+	2	0	DOK1	74637682	0.979000	0.34478	0.860000	0.33809	0.015000	0.08874	0.655000	0.24933	0.365000	0.24400	-0.258000	0.10820	AGC		0.602	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		23	31	1	0	4.4004e-07	0.00333	4.97101e-07	23	31				
LRRTM4	80059	broad.mit.edu	37	2	77746229	77746229	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:77746229G>T	ENST00000409093.1	-	3	1102	c.766C>A	c.(766-768)Cac>Aac	p.H256N	LRRTM4_ENST00000409282.1_Missense_Mutation_p.H257N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.H256N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.H257N|LRRTM4_ENST00000409088.3_Missense_Mutation_p.H256N			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	256					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCCAAGTTGTGTAAGGAACTC	0.418																																							uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(766-768)CAC>AAC		leucine rich repeat transmembrane neuronal 4							57.0	52.0	54.0					2																	77746229		1880	4107	5987	SO:0001583	missense	80059					integral to membrane		g.chr2:77746229G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.766C>A	2.37:g.77746229G>T	ENSP00000386357:p.His256Asn					LRRTM4_uc002snq.2_Missense_Mutation_p.H256N|LRRTM4_uc002sns.2_Missense_Mutation_p.H256N|LRRTM4_uc002snt.2_Missense_Mutation_p.H257N	p.H256N	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1181	-			256			LRR 9.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.766C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687176	0.48097	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.93	5.93	0.95920	.	0.051653	0.85682	D	0.000000	T	0.44159	0.1280	N	0.12527	0.23	0.54753	D	0.999987	B;B;B	0.34399	0.452;0.397;0.452	B;B;B	0.40444	0.329;0.221;0.329	T	0.41342	-0.9514	10	0.42905	T	0.14	.	18.9104	0.92481	0.0:0.0:1.0:0.0	.	257;256;256	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	N	257;256;256;256;257	ENSP00000387228:H257N;ENSP00000387297:H256N;ENSP00000386357:H256N;ENSP00000386236:H256N;ENSP00000386286:H257N	ENSP00000386236:H256N	H	-	1	0	LRRTM4	77599737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	CAC		0.418	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		6	14	1	0	5.9392e-07	0.001168	6.68982e-07	6	14				
REG3G	130120	broad.mit.edu	37	2	79253911	79253911	+	Missense_Mutation	SNP	C	C	A	rs572337430	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79253911C>A	ENST00000272324.5	+	3	333	c.149C>A	c.(148-150)cCc>cAc	p.P50H	REG3G_ENST00000409471.1_Missense_Mutation_p.P50H|REG3G_ENST00000393897.2_Missense_Mutation_p.P50H	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	50	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATGGCTCCCCCTGCTATGCC	0.527													A|||	5	0.000998403	0.0	0.0	5008	,	,		16118	0.005		0.0	False		,,,				2504	0.0						uc002snw.2		NA																	0					0						c.(148-150)CCC>CAC		regenerating islet-derived 3 gamma precursor							87.0	84.0	85.0					2																	79253911		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253911C>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.149C>A	2.37:g.79253911C>A	ENSP00000272324:p.Pro50His					REG3G_uc002snx.2_Missense_Mutation_p.P50H|REG3G_uc010ffu.2_Missense_Mutation_p.P50H	p.P50H	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			3	234	+			50			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.149C>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	A	1.277	-0.611391	0.03690	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.15603	4.43;4.43;2.41	4.84	0.689	0.18033	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.576639	0.15737	N	0.247095	T	0.01800	0.0057	N	0.00017	-2.825	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43196	-0.9406	10	0.07175	T	0.84	.	4.9897	0.14207	0.3684:0.3208:0.0:0.3107	.	50;50	Q3SYE6;Q6UW15	.;REG3G_HUMAN	H	50	ENSP00000377475:P50H;ENSP00000272324:P50H;ENSP00000387105:P50H	ENSP00000272324:P50H	P	+	2	0	REG3G	79107419	0.858000	0.29795	0.129000	0.21949	0.463000	0.32649	1.558000	0.36309	0.065000	0.16485	-0.256000	0.11100	CCC		0.527	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		14	25	1	0	9.31168e-06	0.001855	1.02091e-05	14	25				
REG1A	5967	broad.mit.edu	37	2	79348029	79348029	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79348029G>T	ENST00000233735.1	+	2	145	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	14					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCTCCTGCCTGATGTTTCTGT	0.458																																							uc002snz.2		NA																	0					0						c.(40-42)CTG>CTT		regenerating islet-derived 1 alpha precursor							120.0	100.0	107.0					2																	79348029		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348029G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.42G>T	2.37:g.79348029G>T						REG1A_uc010ffx.1_Silent_p.L14L|REG1A_uc010ysd.1_Silent_p.L14L	p.L14L	NM_002909	NP_002900	P05451	REG1A_HUMAN			2	145	+			14					P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.42G>T	CCDS1964.1																																																																																				0.458	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		21	23	1	0	1.66031e-10	0.003954	2.03616e-10	21	23				
REG3A	5068	broad.mit.edu	37	2	79384806	79384806	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79384806C>T	ENST00000409839.3	-	5	388	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.E118K|REG3A_ENST00000393878.1_Missense_Mutation_p.E118K	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	118	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TCCCAACCTTCTCCATTGGGC	0.552																																							uc002sod.1		NA																	0				skin(1)	1						c.(352-354)GAA>AAA		pancreatitis-associated protein precursor							106.0	102.0	103.0					2																	79384806		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384806C>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.352G>A	2.37:g.79384806C>T	ENSP00000386630:p.Glu118Lys					REG3A_uc002soe.1_Missense_Mutation_p.E118K|REG3A_uc002sof.1_Missense_Mutation_p.E118K	p.E118K	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	607	-			118			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.352G>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328275	0.24080	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.17054	2.3;2.3;2.3	3.96	-0.453	0.12201	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.152800	0.06395	N	0.717651	T	0.07863	0.0197	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.37502	-0.9703	10	0.45353	T	0.12	.	6.6881	0.23156	0.0:0.4774:0.0:0.5226	.	118	Q06141	REG3A_HUMAN	K	118	ENSP00000386630:E118K;ENSP00000377456:E118K;ENSP00000304311:E118K	ENSP00000304311:E118K	E	-	1	0	REG3A	79238314	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.139000	0.16036	-0.099000	0.12263	0.561000	0.74099	GAA		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		24	40	0	0	0	0.00278	0	24	40				
CTNNA2	1496	broad.mit.edu	37	2	79971607	79971607	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:79971607A>T	ENST00000402739.4	+	2	202	c.197A>T	c.(196-198)cAa>cTa	p.Q66L	CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q66L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q66L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q100L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q66L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q66L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	66					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTGTAGAGCAAGCCACTCAG	0.458																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(196-198)CAA>CTA		catenin, alpha 2 isoform 1							82.0	83.0	83.0					2																	79971607		1939	4130	6069	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971607A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.197A>T	2.37:g.79971607A>T	ENSP00000384638:p.Gln66Leu					CTNNA2_uc010yse.1_Missense_Mutation_p.Q66L|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q66L|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q66L	p.Q66L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	202	+			66					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.197A>T		.	.	.	.	.	.	.	.	.	.	A	18.91	3.724349	0.68959	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000451966;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	N	0.15975	0.35	0.58432	D	0.999996	B;B;B	0.16396	0.017;0.003;0.007	B;B;B	0.16289	0.015;0.006;0.006	T	0.08207	-1.0733	10	0.22109	T	0.4	.	13.5353	0.61644	1.0:0.0:0.0:0.0	.	66;66;66	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	66;66;66;66;100;66;66;66	ENSP00000418191:Q66L;ENSP00000419295:Q66L;ENSP00000400105:Q66L;ENSP00000387073:Q66L;ENSP00000355398:Q100L;ENSP00000384638:Q66L;ENSP00000444675:Q66L;ENSP00000441705:Q66L	ENSP00000355398:Q100L	Q	+	2	0	CTNNA2	79825115	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.406000	0.80017	2.087000	0.62958	0.377000	0.23210	CAA		0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		7	17	0	0	0	0.00308	0	7	17				
GNLY	10578	broad.mit.edu	37	2	85923143	85923143	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:85923143C>G	ENST00000263863.4	+	3	347	c.219C>G	c.(217-219)gtC>gtG	p.V73V	GNLY_ENST00000524600.1_Silent_p.V100V|GNLY_ENST00000409696.3_Silent_p.V58V|GNLY_ENST00000533041.1_3'UTR	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	73	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TGACGATAGTCCAAAAACTGA	0.552																																							uc002sql.3		NA																	0					0						c.(217-219)GTC>GTG		granulysin isoform NKG5							64.0	58.0	60.0					2																	85923143		2203	4300	6503	SO:0001819	synonymous_variant	10578				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr2:85923143C>G	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"""T-lymphocyte activation gene 519"""	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.219C>G	2.37:g.85923143C>G						GNLY_uc010fgp.2_Silent_p.V58V|GNLY_uc010ysx.1_Silent_p.V100V	p.V73V	NM_006433	NP_006424	P22749	GNLY_HUMAN			3	347	+			73			Saposin B-type.		P09325|Q6GU08	Silent	SNP	ENST00000263863.4	37	c.219C>G	CCDS1984.1	.	.	.	.	.	.	.	.	.	.	C	2.031	-0.422371	0.04734	.	.	ENSG00000115523	ENST00000526018	.	.	.	2.07	-3.27	0.05048	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	.	4.9028	0.13782	0.3768:0.2495:0.3737:0.0	.	.	.	.	C	40	.	.	S	+	2	0	GNLY	85776654	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.505000	0.02273	-0.873000	0.04032	0.460000	0.39030	TCC		0.552	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		14	20	0	0	0	0.00245	0	14	20				
ASTL	431705	broad.mit.edu	37	2	96798378	96798378	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:96798378C>A	ENST00000342380.2	-	6	537	c.538G>T	c.(538-540)Gtc>Ttc	p.V180F		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TCATGAAGGACAATGCCCCGG	0.637																																							uc010yui.1		NA																	0					0						c.(538-540)GTC>TTC		astacin-like metalloendopeptidase precursor							87.0	90.0	89.0					2																	96798378		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96798378C>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.538G>T	2.37:g.96798378C>A	ENSP00000343674:p.Val180Phe						p.V180F	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			6	538	-			180						Missense_Mutation	SNP	ENST00000342380.2	37	c.538G>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335889	0.41398	.	.	ENSG00000188886	ENST00000342380	T	0.68479	-0.33	4.79	3.91	0.45181	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.170013	0.27168	N	0.020605	T	0.78207	0.4247	M	0.78344	2.41	0.32976	D	0.522948	D	0.63046	0.992	P	0.62298	0.9	D	0.84230	0.0466	10	0.87932	D	0	-14.258	10.6411	0.45594	0.0:0.905:0.0:0.095	.	180	Q6HA08	ASTL_HUMAN	F	180	ENSP00000343674:V180F	ENSP00000343674:V180F	V	-	1	0	ASTL	96162105	0.002000	0.14202	0.521000	0.27850	0.057000	0.15508	1.666000	0.37460	1.016000	0.39470	0.551000	0.68910	GTC		0.637	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			49	72	1	0	9.55421e-19	0.00361	1.37791e-18	49	72				
TMEM131	23505	broad.mit.edu	37	2	98392311	98392311	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:98392311T>G	ENST00000186436.5	-	32	4543	c.4315A>C	c.(4315-4317)Aag>Cag	p.K1439Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1439	Lys-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGTACCTCCTTGAGGAGCGGT	0.512																																							uc002syh.3		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(4315-4317)AAG>CAG		RW1 protein							129.0	134.0	132.0					2																	98392311		2006	4185	6191	SO:0001583	missense	23505					integral to membrane		g.chr2:98392311T>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4315A>C	2.37:g.98392311T>G	ENSP00000186436:p.Lys1439Gln						p.K1439Q	NM_015348	NP_056163	Q92545	TM131_HUMAN			32	4544	-			1439			Lys-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.4315A>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546795	0.65198	.	.	ENSG00000075568	ENST00000186436	T	0.19532	2.14	5.22	5.22	0.72569	.	0.094886	0.64402	D	0.000001	T	0.22589	0.0545	L	0.58101	1.795	0.80722	D	1	P	0.41366	0.747	B	0.37650	0.255	T	0.03148	-1.1067	10	0.25751	T	0.34	-9.4422	15.0893	0.72180	0.0:0.0:0.0:1.0	.	1439	Q92545	TM131_HUMAN	Q	1439	ENSP00000186436:K1439Q	ENSP00000186436:K1439Q	K	-	1	0	TMEM131	97758743	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.172000	0.77604	1.974000	0.57490	0.533000	0.62120	AAG		0.512	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		15	19	0	0	0	0.004007	0	15	19				
KIAA1211L	343990	broad.mit.edu	37	2	99443583	99443583	+	Missense_Mutation	SNP	C	C	T	rs184848302		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:99443583C>T	ENST00000397899.2	-	6	921	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	197																	GTCTGAGATCCGGGCAGAGAC	0.557																																							uc002szf.1		NA																	0					0						c.(589-591)CGG>CAG		hypothetical protein LOC343990							90.0	96.0	94.0					2																	99443583		2133	4253	6386	SO:0001583	missense	343990							g.chr2:99443583C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.590G>A	2.37:g.99443583C>T	ENSP00000380996:p.Arg197Gln						p.R197Q	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			6	884	-			197						Missense_Mutation	SNP	ENST00000397899.2	37	c.590G>A	CCDS42720.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	7.851	0.723973	0.15439	.	.	ENSG00000196872	ENST00000397899;ENST00000423771	T	0.46063	0.88	4.77	3.89	0.44902	.	0.293204	0.24370	N	0.039110	T	0.34395	0.0896	M	0.66939	2.045	0.09310	N	1	P	0.46220	0.874	B	0.35278	0.199	T	0.41324	-0.9515	10	0.56958	D	0.05	-1.9195	7.0187	0.24902	0.0:0.8002:0.0:0.1998	.	197	Q6NV74	CB055_HUMAN	Q	197;225	ENSP00000380996:R197Q	ENSP00000380996:R197Q	R	-	2	0	C2orf55	98810015	0.823000	0.29233	0.767000	0.31495	0.007000	0.05969	0.059000	0.14322	1.226000	0.43582	0.561000	0.74099	CGG		0.557	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		19	48	0	0	0	0.002299	0	19	48				
RNF149	284996	broad.mit.edu	37	2	101924612	101924613	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:101924612_101924613TG>AT	ENST00000295317.3	-	1	545_546	c.438_439CA>AT	c.(436-441)atCAcc>atATcc	p.T147S	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	147	PA.				cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ATGGGCAAGGTGATGTTCCCGT	0.683																																					Colon(25;331 612 6521 7355 31028)	Colon(25;331 612 6521 7355 31028)	uc002taz.1		NA																	0				ovary(1)|breast(1)	2						c.(436-441)ATCACC>ATATCC		ring finger protein 149 precursor																																				SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101924612_101924613TG>AT	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.438_439delinsAT	2.37:g.101924612_101924613delinsAT	ENSP00000295317:p.Thr147Ser					RNF149_uc002tax.1_RNA	p.T147S	NM_173647	NP_775918	Q8NC42	RN149_HUMAN			1	540_541	-			147			PA.		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	DNP	ENST00000295317.3	37	c.438_439CA>AT	CCDS2051.1																																																																																				0.683	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		19	47	0	0	0	0.004672	0	19	47				
IL18RAP	8807	broad.mit.edu	37	2	103068359	103068359	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:103068359A>G	ENST00000264260.2	+	12	2107	c.1518A>G	c.(1516-1518)acA>acG	p.T506T	IL18RAP_ENST00000409369.1_Silent_p.T364T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	506	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGATCAAACACTGAAACTCA	0.413																																							uc002tbx.2		NA																	0				skin(3)|ovary(2)	5						c.(1516-1518)ACA>ACG		interleukin 18 receptor accessory protein							118.0	120.0	120.0					2																	103068359		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068359A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1518A>G	2.37:g.103068359A>G						IL18RAP_uc010fiz.2_Silent_p.T364T	p.T506T	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	2002	+			506			TIR.|Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1518A>G	CCDS2061.1																																																																																				0.413	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		13	72	0	0	0	0.001368	0	13	72				
RGPD3	653489	broad.mit.edu	37	2	107040512	107040512	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:107040512T>A	ENST00000409886.3	-	20	3998	c.3911A>T	c.(3910-3912)aAg>aTg	p.K1304M	RGPD3_ENST00000304514.7_Missense_Mutation_p.K1304M	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1304					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GGCAGGAGACTTAGATAGACT	0.403																																							uc010ywi.1		NA																	0				ovary(1)	1						c.(3910-3912)AAG>ATG		RANBP2-like and GRIP domain containing 3							4.0	9.0	7.0					2																	107040512		349	936	1285	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107040512T>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3911A>T	2.37:g.107040512T>A	ENSP00000386588:p.Lys1304Met						p.K1304M	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			20	3968	-			1304					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.3911A>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.718663	0.30503	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.47869	0.83;0.83	2.35	2.35	0.29111	.	.	.	.	.	T	0.53867	0.1823	L	0.36672	1.1	0.33242	D	0.557338	D	0.89917	1.0	D	0.75484	0.986	T	0.62067	-0.6932	9	0.56958	D	0.05	-23.722	8.2552	0.31751	0.0:0.0:0.0:1.0	.	1304	A6NKT7	RGPD3_HUMAN	M	1304	ENSP00000386588:K1304M;ENSP00000303659:K1304M	ENSP00000303659:K1304M	K	-	2	0	RGPD3	106406944	1.000000	0.71417	0.999000	0.59377	0.403000	0.30841	7.793000	0.85851	1.080000	0.41073	0.156000	0.16432	AAG		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		54	265	0	0	0	0.00361	0	54	265				
ST6GAL2	84620	broad.mit.edu	37	2	107446683	107446683	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:107446683G>T	ENST00000409382.3	-	5	1767	c.1157C>A	c.(1156-1158)cCg>cAg	p.P386Q	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P386Q|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P386Q	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	386					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTTGTAATCCGGTTTTTTGTA	0.393																																							uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(1156-1158)CCG>CAG		ST6 beta-galactosamide							128.0	124.0	125.0					2																	107446683		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107446683G>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1157C>A	2.37:g.107446683G>T	ENSP00000386942:p.Pro386Gln					ST6GAL2_uc002tdr.2_Missense_Mutation_p.P386Q|ST6GAL2_uc002tds.3_Missense_Mutation_p.P386Q	p.P386Q	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			5	1276	-			386			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1157C>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574069	0.86542	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78595	-1.19;-1.19;-1.19	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.90783	0.7106	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90991	0.4835	10	0.56958	D	0.05	-13.5158	19.609	0.95594	0.0:0.0:1.0:0.0	.	386;386	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	Q	386	ENSP00000355273:P386Q;ENSP00000386942:P386Q;ENSP00000387332:P386Q	ENSP00000355273:P386Q	P	-	2	0	ST6GAL2	106813115	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CCG		0.393	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		10	42	1	0	1.08611e-07	0.000978	1.2533e-07	10	42				
RGPD4	285190	broad.mit.edu	37	2	108487786	108487786	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:108487786G>C	ENST00000408999.3	+	20	3403	c.3326G>C	c.(3325-3327)tGt>tCt	p.C1109S	RGPD4_ENST00000354986.4_Missense_Mutation_p.C1109S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1109	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTAAAAGTGTGTGCTAATCAT	0.443																																							uc010ywk.1		NA																	0				skin(2)	2						c.(3325-3327)TGT>TCT		RANBP2-like and GRIP domain containing 4							4.0	4.0	4.0					2																	108487786		669	1506	2175	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487786G>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3326G>C	2.37:g.108487786G>C	ENSP00000386810:p.Cys1109Ser					RGPD4_uc002tdu.2_Missense_Mutation_p.C296S|RGPD4_uc010ywl.1_RNA	p.C1109S	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	3408	+			1109			RanBD1 1.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3326G>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	12.49	1.952759	0.34471	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.49720	0.77;0.77	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.74038	0.3664	H	0.94925	3.6	0.39736	D	0.971682	D	0.89917	1.0	D	0.91635	0.999	T	0.80786	-0.1227	9	0.56958	D	0.05	-23.5873	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1109	Q7Z3J3	RGPD4_HUMAN	S	1109;1109;867	ENSP00000347081:C1109S;ENSP00000386810:C1109S	ENSP00000347081:C1109S	C	+	2	0	RGPD4	107854218	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	9.533000	0.98059	1.303000	0.44873	0.162000	0.16502	TGT		0.443	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		214	100	0	0	0	0.00361	0	214	100				
SH3RF3	344558	broad.mit.edu	37	2	110053474	110053474	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:110053474G>T	ENST00000309415.6	+	7	1700	c.1700G>T	c.(1699-1701)aGg>aTg	p.R567M		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	567							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACTGCCACCAGGCCCGCCCTG	0.667																																							uc010ywt.1		NA																	0				ovary(1)	1						c.(1699-1701)AGG>ATG		SH3 domain containing ring finger 3							37.0	54.0	48.0					2																	110053474		2131	4225	6356	SO:0001583	missense	344558						zinc ion binding	g.chr2:110053474G>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1700G>T	2.37:g.110053474G>T	ENSP00000309186:p.Arg567Met						p.R567M	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			7	1700	+			567					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1700G>T		.	.	.	.	.	.	.	.	.	.	G	14.09	2.431549	0.43122	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.57107	0.42;2.18	5.36	4.47	0.54385	Src homology-3 domain (1);	0.214813	0.44688	D	0.000427	T	0.64724	0.2624	.	.	.	0.46078	D	0.998856	D	0.61080	0.989	P	0.57776	0.827	T	0.65096	-0.6251	9	0.39692	T	0.17	-33.0872	13.7117	0.62672	0.0:0.0:0.8456:0.1544	.	567	Q8TEJ3	SH3R3_HUMAN	M	567	ENSP00000414997:R567M;ENSP00000309186:R567M	ENSP00000309186:R567M	R	+	2	0	SH3RF3	109419906	1.000000	0.71417	0.240000	0.24138	0.390000	0.30446	5.848000	0.69458	1.244000	0.43870	0.650000	0.86243	AGG		0.667	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		22	64	1	0	7.41877e-09	0.001882	8.79241e-09	22	64				
IL36G	56300	broad.mit.edu	37	2	113742625	113742625	+	Nonstop_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:113742625G>T	ENST00000259205.4	+	5	578	c.509G>T	c.(508-510)tGa>tTa	p.*170L	IL36G_ENST00000376489.2_Nonstop_Mutation_p.*135L	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ATAAATGACTGAACTCAGCCT	0.428																																						Esophageal Squamous(44;715 981 6239 42838 46707)	uc002tio.1		NA																	0					0						c.(508-510)TGA>TTA		interleukin 1 family, member 9							34.0	34.0	34.0					2																	113742625		2203	4300	6503	SO:0001578	stop_lost	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742625G>T	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.509G>T	2.37:g.113742625G>T	ENSP00000259205:p.*170Leuext*26					IL1F9_uc010fkr.1_Nonstop_Mutation_p.*135L	p.*170L	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN			5	578	+			170					Q56B91|Q6UVX7|Q7RTZ9	Nonstop_Mutation	SNP	ENST00000259205.4	37	c.509G>T	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	5.599	0.295273	0.10622	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	.	.	.	4.66	-0.373	0.12516	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7009	0.08382	0.3731:0.0:0.4617:0.1652	.	.	.	.	L	135;170	.	.	X	+	2	2	IL36G	113459096	0.003000	0.15002	0.000000	0.03702	0.145000	0.21501	0.290000	0.18975	0.022000	0.15160	0.448000	0.29417	TGA		0.428	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		16	16	1	0	2.31682e-05	0.003163	2.52152e-05	16	16				
GPR17	2840	broad.mit.edu	37	2	128408340	128408340	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:128408340C>A	ENST00000272644.3	+	3	189	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.L39M|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410038.1_5'Flank|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000393018.3_Missense_Mutation_p.L39M	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	39					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		tcccccaggtctgatcaccaa	0.542											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010yzn.1		NA																	0					0						c.(115-117)CTG>ATG		G protein-coupled receptor 17 isoform a							73.0	73.0	73.0					2																	128408340		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408340C>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.115C>A	2.37:g.128408340C>A	ENSP00000272644:p.Leu39Met		OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1564	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.L39M|GPR17_uc010yzo.1_Missense_Mutation_p.L11M|GPR17_uc002tpd.2_Missense_Mutation_p.L11M	p.L39M	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	726	+	Colorectal(110;0.1)	Ovarian(717;0.15)	39			Extracellular (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.115C>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	c	6.799	0.516423	0.12944	.	.	ENSG00000144230	ENST00000544369;ENST00000339805;ENST00000272644;ENST00000423019;ENST00000393018	T;T;T;T	0.67523	-0.27;-0.27;0.1;-0.27	5.17	4.3	0.51218	.	0.355112	0.24180	N	0.040806	T	0.49474	0.1559	N	0.08118	0	0.29147	N	0.878614	P	0.48911	0.917	P	0.47470	0.548	T	0.45145	-0.9281	10	0.30078	T	0.28	.	9.6724	0.40019	0.0:0.839:0.0:0.161	.	39	Q13304	GPR17_HUMAN	M	39;11;39;39;39	ENSP00000442982:L39M;ENSP00000272644:L39M;ENSP00000387970:L39M;ENSP00000376741:L39M	ENSP00000272644:L39M	L	+	1	2	GPR17	128124810	0.844000	0.29557	0.205000	0.23548	0.005000	0.04900	2.158000	0.42329	1.317000	0.45149	-0.140000	0.14226	CTG		0.542	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			31	95	1	0	2.81731e-10	0.002096	3.442e-10	31	95				
HS6ST1	9394	broad.mit.edu	37	2	129025948	129025948	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:129025948C>A	ENST00000259241.6	-	2	1037	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	342					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ATGTCCAGGTCGTTGAGCTCC	0.627																																							uc002tpt.3		NA																	0				pancreas(1)	1						c.(1024-1026)GAC>TAC		heparan sulfate 6-O-sulfotransferase 1							71.0	76.0	75.0					2																	129025948		2186	4291	6477	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129025948C>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1024G>T	2.37:g.129025948C>A	ENSP00000259241:p.Asp342Tyr						p.D342Y	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	1058	-	Colorectal(110;0.1)		342			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.1024G>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866759	0.51588	.	.	ENSG00000136720	ENST00000259241	T	0.73047	-0.71	4.48	4.48	0.54585	.	0.096661	0.64402	D	0.000001	T	0.70631	0.3246	N	0.14661	0.345	0.80722	D	1	D	0.65815	0.995	D	0.64776	0.929	T	0.70970	-0.4727	9	.	.	.	0.0562	17.5384	0.87840	0.0:1.0:0.0:0.0	.	342	O60243	H6ST1_HUMAN	Y	342	ENSP00000259241:D342Y	.	D	-	1	0	HS6ST1	128742418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.673000	0.68109	2.203000	0.70933	0.462000	0.41574	GAC		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		20	55	1	0	1.56452e-12	0.007413	1.99722e-12	20	55				
POTEE	445582	broad.mit.edu	37	2	131976074	131976074	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:131976074C>G	ENST00000356920.5	+	1	193	c.99C>G	c.(97-99)ccC>ccG	p.P33P	POTEE_ENST00000358087.5_Silent_p.P33P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	33					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GTTGCTTCCCCTGCTACAGGG	0.567																																							uc002tsn.2		NA																	0					0						c.(97-99)CCC>CCG		protein expressed in prostate, ovary, testis,							146.0	170.0	162.0					2																	131976074		2189	4298	6487	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976074C>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.99C>G	2.37:g.131976074C>G						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.P33P	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	151	+			33					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.99C>G	CCDS46414.1																																																																																				0.567	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		193	129	0	0	0	0.00361	0	193	129				
LYPD1	116372	broad.mit.edu	37	2	133426004	133426004	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:133426004C>A	ENST00000397463.2	-	2	431	c.159G>T	c.(157-159)atG>atT	p.M53I	AC010974.3_ENST00000450509.1_RNA|LYPD1_ENST00000345008.6_Start_Codon_SNP_p.M1I	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	53	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						CTTTCTGACACATGTCTTGAA	0.552																																							uc002ttn.2		NA																	0					0						c.(157-159)ATG>ATT		LY6/PLAUR domain containing 1 isoform a							83.0	90.0	88.0					2																	133426004		1991	4157	6148	SO:0001583	missense	116372					anchored to membrane|plasma membrane		g.chr2:133426004C>A	AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.159G>T	2.37:g.133426004C>A	ENSP00000380605:p.Met53Ile					LYPD1_uc002ttm.3_Missense_Mutation_p.M69I|LYPD1_uc002tto.2_Missense_Mutation_p.M1I	p.M53I	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN			2	1135	-			53			UPAR/Ly6.		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Missense_Mutation	SNP	ENST00000397463.2	37	c.159G>T	CCDS42759.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216385	0.58452	.	.	ENSG00000150551	ENST00000409034;ENST00000397463;ENST00000345008	D;D	0.81908	-1.55;-1.55	5.53	3.66	0.41972	Ly-6 antigen / uPA receptor -like (1);	0.102371	0.64402	D	0.000004	T	0.64843	0.2635	N	0.19112	0.55	0.25035	N	0.991245	B;P	0.41848	0.082;0.763	B;B	0.28011	0.058;0.085	T	0.65957	-0.6042	10	0.87932	D	0	-7.3108	9.7468	0.40451	0.1422:0.7836:0.0:0.0743	.	53;69	Q8N2G4;Q8N2G4-3	LYPD1_HUMAN;.	I	76;53;1	ENSP00000380605:M53I;ENSP00000340563:M1I	ENSP00000340563:M1I	M	-	3	0	LYPD1	133142474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.329000	0.52060	2.882000	0.98803	0.655000	0.94253	ATG		0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1	NM_144586		18	54	1	0	5.35267e-07	0.007413	6.03971e-07	18	54				
NCKAP5	344148	broad.mit.edu	37	2	133540099	133540099	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:133540099C>A	ENST00000409261.1	-	14	4658	c.4285G>T	c.(4285-4287)Ggg>Tgg	p.G1429W	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1429W|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1429										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAGTCCTCCCTGGGCTCTGC	0.577																																							uc002ttp.2		NA																	0					0						c.(4285-4287)GGG>TGG		Nck-associated protein 5 isoform 1							46.0	48.0	47.0					2																	133540099		1951	4153	6104	SO:0001583	missense	344148						protein binding	g.chr2:133540099C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4285G>T	2.37:g.133540099C>A	ENSP00000387128:p.Gly1429Trp					NCKAP5_uc002ttq.2_Intron	p.G1429W	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4659	-			1429					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4285G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140792	0.37825	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10668	2.85;2.85	5.5	3.57	0.40892	.	0.195253	0.24368	U	0.039128	T	0.20251	0.0487	L	0.32530	0.975	0.09310	N	0.999993	D	0.76494	0.999	D	0.76575	0.988	T	0.01596	-1.1316	10	0.72032	D	0.01	.	10.8838	0.46955	0.0:0.8337:0.0:0.1663	.	1429	O14513	NCKP5_HUMAN	W	1429	ENSP00000387128:G1429W;ENSP00000380603:G1429W	ENSP00000380603:G1429W	G	-	1	0	NCKAP5	133256569	0.045000	0.20229	0.587000	0.28692	0.877000	0.50540	2.082000	0.41605	1.541000	0.49316	0.655000	0.94253	GGG		0.577	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		31	25	1	0	2.08457e-15	0.002096	2.82124e-15	31	25				
NCKAP5	344148	broad.mit.edu	37	2	133543015	133543015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:133543015G>T	ENST00000409261.1	-	14	1742	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L457M	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	457										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGCTCCCCAGGTCAGCTGTT	0.473																																							uc002ttp.2		NA																	0					0						c.(1369-1371)CTG>ATG		Nck-associated protein 5 isoform 1							53.0	52.0	52.0					2																	133543015		1858	4094	5952	SO:0001583	missense	344148						protein binding	g.chr2:133543015G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1369C>A	2.37:g.133543015G>T	ENSP00000387128:p.Leu457Met					NCKAP5_uc002ttq.2_Intron	p.L457M	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	1743	-			457					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1369C>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.989043	0.00439	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09911	2.93;2.93	5.38	-5.02	0.02982	.	2.480080	0.03333	N	0.193709	T	0.02970	0.0088	N	0.02539	-0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.34453	-0.9828	10	0.06757	T	0.87	.	3.0878	0.06284	0.0973:0.1954:0.4098:0.2975	.	457	O14513	NCKP5_HUMAN	M	457	ENSP00000387128:L457M;ENSP00000380603:L457M	ENSP00000380603:L457M	L	-	1	2	NCKAP5	133259485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.533000	0.06157	-0.756000	0.04703	-0.292000	0.09595	CTG		0.473	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		40	24	1	0	2.19358e-23	0.005524	3.39391e-23	40	24				
R3HDM1	23518	broad.mit.edu	37	2	136467772	136467772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:136467772G>T	ENST00000264160.4	+	22	2972	c.2602G>T	c.(2602-2604)Gaa>Taa	p.E868*	R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.E869*|R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.E813*|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.E740*|R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.E739*	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	868							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAAGTGTGTAGAATTTAGCAG	0.383											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002tuo.2		NA																	0				skin(1)	1						c.(2602-2604)GAA>TAA		R3H domain containing 1							134.0	122.0	126.0					2																	136467772		2203	4300	6503	SO:0001587	stop_gained	23518						nucleic acid binding	g.chr2:136467772G>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2602G>T	2.37:g.136467772G>T	ENSP00000264160:p.Glu868*		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_uc010fni.2_Nonsense_Mutation_p.E867*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.E813*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.E616*	p.E868*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2972	+			868					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Nonsense_Mutation	SNP	ENST00000264160.4	37	c.2602G>T	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	36|36|36	5.656666|5.656666|5.656666	0.96724|0.96724|0.96724	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703|ENST00000445855	.|.|.	.|.|.	.|.|.	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	0.167862|.|.	0.52532|.|.	D|.|.	0.000075|.|.	.|T|.	.|0.75961|.	.|0.3921|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.74509|.	.|-0.3642|.	.|3|.	0.32370|.|.	T|.|.	0.25|.|.	-3.8215|-3.8215|-3.8215	19.0238|19.0238|19.0238	0.92925|0.92925|0.92925	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|Y	740;868;739;813;869|591|163	.|.|.	ENSP00000264160:E868X|.|.	E|R|X	+|+|+	1|2|3	0|0|2	R3HDM1|R3HDM1|R3HDM1	136184242|136184242|136184242	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.701000|0.701000|0.701000	0.40568|0.40568|0.40568	7.417000|7.417000|7.417000	0.80156|0.80156|0.80156	2.578000|2.578000|2.578000	0.87016|0.87016|0.87016	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|AGA|TAG		0.383	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		12	42	1	0	4.3838e-07	0.001855	4.96386e-07	12	42				
LCT	3938	broad.mit.edu	37	2	136594312	136594312	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:136594312C>A	ENST00000264162.2	-	1	438	c.428G>T	c.(427-429)aGa>aTa	p.R143I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	143	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGCTTCGGTTCTCCGGAGGGT	0.602																																							uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(427-429)AGA>ATA		lactase-phlorizin hydrolase preproprotein							105.0	93.0	97.0					2																	136594312		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594312C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.428G>T	2.37:g.136594312C>A	ENSP00000264162:p.Arg143Ile						p.R143I	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	439	-			143			Extracellular (Potential).|4 X approximate repeats.|1.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.428G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	c	11.65	1.701543	0.30142	.	.	ENSG00000115850	ENST00000264162	T	0.32515	1.45	5.83	3.01	0.34805	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.965997	0.08573	N	0.925709	T	0.35278	0.0926	L	0.53249	1.67	0.09310	N	1	P	0.44281	0.831	P	0.46026	0.501	T	0.18178	-1.0345	10	0.52906	T	0.07	-1.2315	7.7663	0.28982	0.0:0.5982:0.2166:0.1852	.	143	P09848	LPH_HUMAN	I	143	ENSP00000264162:R143I	ENSP00000264162:R143I	R	-	2	0	LCT	136310782	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.018000	0.12568	0.796000	0.33947	0.651000	0.88453	AGA		0.602	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		8	35	1	0	3.09899e-07	0.004482	3.5297e-07	8	35				
THSD7B	80731	broad.mit.edu	37	2	137917812	137917812	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:137917812G>T	ENST00000409968.1	+	6	1577	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	THSD7B_ENST00000272643.3_Missense_Mutation_p.V467L|THSD7B_ENST00000413152.2_Missense_Mutation_p.V436L|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	467	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCATTATGTGTGGGACCCGC	0.498																																							uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1306-1308)GTG>TTG		thrombospondin, type I, domain containing 7B							161.0	161.0	161.0					2																	137917812		2009	4160	6169	SO:0001583	missense	80731							g.chr2:137917812G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1399G>T	2.37:g.137917812G>T	ENSP00000387145:p.Val467Leu					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.V326L	p.V436L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	5	1306	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1306G>T		.	.	.	.	.	.	.	.	.	.	g	1.012	-0.687670	0.03328	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60424	0.19;0.19;0.19	5.96	-6.61	0.01818	.	1.392740	0.04121	N	0.316320	T	0.20455	0.0492	N	0.00879	-1.12	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10428	-1.0630	10	0.25106	T	0.35	.	3.9635	0.09421	0.0961:0.245:0.4347:0.2242	.	467;436	Q9C0I4;C9JKN6	THS7B_HUMAN;.	L	467;467;436	ENSP00000387145:V467L;ENSP00000272643:V467L;ENSP00000413841:V436L	ENSP00000272643:V467L	V	+	1	0	THSD7B	137634282	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.505000	0.06367	-1.071000	0.03145	-2.107000	0.00358	GTG		0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		25	56	1	0	1.5548e-18	0.005443	2.2307e-18	25	56				
LRP1B	53353	broad.mit.edu	37	2	141027836	141027836	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141027836G>T	ENST00000389484.3	-	86	14193	c.13222C>A	c.(13222-13224)Ccc>Acc	p.P4408T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4408	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTCTCGGGGTCCAGCTGG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13222-13224)CCC>ACC		low density lipoprotein-related protein 1B							117.0	105.0	109.0					2																	141027836		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141027836G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13222C>A	2.37:g.141027836G>T	ENSP00000374135:p.Pro4408Thr	TSP Lung(27;0.18)					p.P4408T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	86	14194	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4408			Extracellular (Potential).|EGF-like 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13222C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391107	0.62066	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.40476	1.03	5.73	3.9	0.45041	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000001	T	0.29914	0.0748	L	0.34521	1.04	0.41819	D	0.990011	B	0.10296	0.003	B	0.10450	0.005	T	0.06588	-1.0818	10	0.18710	T	0.47	.	11.053	0.47901	0.0667:0.0:0.8039:0.1294	.	4408	Q9NZR2	LRP1B_HUMAN	T	4408;4346	ENSP00000374135:P4408T	ENSP00000374135:P4408T	P	-	1	0	LRP1B	140744306	1.000000	0.71417	0.986000	0.45419	0.828000	0.46876	5.358000	0.66064	0.845000	0.35118	0.655000	0.94253	CCC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		30	36	1	0	3.67414e-24	0.002445	5.75834e-24	30	36				
LRP1B	53353	broad.mit.edu	37	2	141128289	141128289	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141128289G>T	ENST00000389484.3	-	71	11969	c.10998C>A	c.(10996-10998)aaC>aaA	p.N3666K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3666	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCTTTCACAGTTCTCTTCAT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10996-10998)AAC>AAA		low density lipoprotein-related protein 1B							263.0	249.0	254.0					2																	141128289		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128289G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10998C>A	2.37:g.141128289G>T	ENSP00000374135:p.Asn3666Lys	TSP Lung(27;0.18)					p.N3666K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	71	11970	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3666			Extracellular (Potential).|LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10998C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	0.928	-0.713588	0.03206	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95656	-3.77	5.19	3.34	0.38264	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.414645	0.23098	N	0.051960	D	0.91556	0.7333	L	0.60012	1.86	0.37420	D	0.913614	B	0.02656	0.0	B	0.04013	0.001	D	0.84257	0.0481	10	0.14656	T	0.56	.	6.5845	0.22612	0.0714:0.1305:0.6627:0.1354	.	3666	Q9NZR2	LRP1B_HUMAN	K	3666;3604	ENSP00000374135:N3666K	ENSP00000374135:N3666K	N	-	3	2	LRP1B	140844759	1.000000	0.71417	0.839000	0.33178	0.662000	0.39071	2.115000	0.41921	0.545000	0.28902	-0.479000	0.04858	AAC		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		45	107	1	0	1.81118e-26	0.00361	2.91902e-26	45	107				
LRP1B	53353	broad.mit.edu	37	2	141473552	141473552	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141473552G>T	ENST00000389484.3	-	37	6984	c.6013C>A	c.(6013-6015)Cca>Aca	p.P2005T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2005					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTTCTCTGGGTGCACAGCT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6013-6015)CCA>ACA		low density lipoprotein-related protein 1B							101.0	103.0	102.0					2																	141473552		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473552G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6013C>A	2.37:g.141473552G>T	ENSP00000374135:p.Pro2005Thr	TSP Lung(27;0.18)					p.P2005T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6985	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2005			Extracellular (Potential).|LDL-receptor class B 20.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6013C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576144	0.86645	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95554	-3.74	5.13	5.13	0.70059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000002	D	0.98507	0.9502	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99564	1.0969	10	0.66056	D	0.02	.	18.5891	0.91202	0.0:0.0:1.0:0.0	.	2005	Q9NZR2	LRP1B_HUMAN	T	2005;1943	ENSP00000374135:P2005T	ENSP00000374135:P2005T	P	-	1	0	LRP1B	141190022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.660000	0.98599	2.397000	0.81536	0.650000	0.86243	CCA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	39	1	0	5.3912e-06	0.006122	5.93431e-06	17	39				
LRP1B	53353	broad.mit.edu	37	2	141526841	141526841	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141526841A>C	ENST00000389484.3	-	35	6670	c.5699T>G	c.(5698-5700)aTg>aGg	p.M1900R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1900					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAGCATCCATTTTGTCACT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5698-5700)ATG>AGG		low density lipoprotein-related protein 1B							86.0	86.0	86.0					2																	141526841		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141526841A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5699T>G	2.37:g.141526841A>C	ENSP00000374135:p.Met1900Arg	TSP Lung(27;0.18)					p.M1900R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	35	6671	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1900			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5699T>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133116	0.37630	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.59	3.12	0.35913	Six-bladed beta-propeller, TolB-like (1);	0.274751	0.35179	N	0.003384	T	0.79868	0.4520	N	0.14661	0.345	0.25908	N	0.98327	B	0.18166	0.026	B	0.18263	0.021	T	0.63028	-0.6728	10	0.17832	T	0.49	.	9.8687	0.41160	0.8263:0.0:0.1737:0.0	.	1900	Q9NZR2	LRP1B_HUMAN	R	1900;1838	ENSP00000374135:M1900R	ENSP00000374135:M1900R	M	-	2	0	LRP1B	141243311	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.066000	0.30604	0.420000	0.25954	0.533000	0.62120	ATG		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	22	0	0	0	0.003954	0	24	22				
KYNU	8942	broad.mit.edu	37	2	143715246	143715246	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:143715246A>T	ENST00000264170.4	+	7	802	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	KYNU_ENST00000375773.2_Missense_Mutation_p.N182Y|KYNU_ENST00000409512.1_Missense_Mutation_p.N182Y	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TCACGGACTTAACATTGAAGA	0.313																																							uc002tvl.2		NA																	0				skin(2)	2						c.(544-546)AAC>TAC		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						119.0	115.0	117.0					2																	143715246		2203	4298	6501	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143715246A>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.544A>T	2.37:g.143715246A>T	ENSP00000264170:p.Asn182Tyr					KYNU_uc002tvk.2_Missense_Mutation_p.N182Y|KYNU_uc010fnm.2_Missense_Mutation_p.N182Y	p.N182Y	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	7	674	+			182						Missense_Mutation	SNP	ENST00000264170.4	37	c.544A>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610683	0.66558	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.55234	0.53;0.53;0.53	5.24	-5.57	0.02521	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.747809	0.12900	N	0.429886	T	0.54191	0.1843	M	0.62723	1.935	0.26801	N	0.969198	P;P	0.51057	0.941;0.904	P;B	0.52881	0.712;0.435	T	0.57670	-0.7771	10	0.87932	D	0	.	10.0294	0.42092	0.1792:0.2344:0.5864:0.0	.	182;182	Q16719;Q9BVW3	KYNU_HUMAN;.	Y	182	ENSP00000264170:N182Y;ENSP00000364928:N182Y;ENSP00000386731:N182Y	ENSP00000264170:N182Y	N	+	1	0	KYNU	143431716	0.294000	0.24380	0.362000	0.25862	0.888000	0.51559	0.373000	0.20484	-0.824000	0.04295	0.477000	0.44152	AAC		0.313	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		8	22	0	0	0	0.004482	0	8	22				
KYNU	8942	broad.mit.edu	37	2	143798057	143798057	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:143798057C>G	ENST00000264170.4	+	13	1360	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V	KYNU_ENST00000409512.1_Missense_Mutation_p.L368V	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AACTGGCTATCTGGAATACCT	0.403																																							uc002tvl.2		NA																	0				skin(2)	2						c.(1102-1104)CTG>GTG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						95.0	91.0	92.0					2																	143798057		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143798057C>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1102C>G	2.37:g.143798057C>G	ENSP00000264170:p.Leu368Val					KYNU_uc010fnm.2_Missense_Mutation_p.L368V	p.L368V	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1232	+			368						Missense_Mutation	SNP	ENST00000264170.4	37	c.1102C>G	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864165	0.51482	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.60299	0.2;0.2	5.63	3.65	0.41850	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.077759	0.53938	D	0.000055	T	0.70710	0.3255	M	0.94021	3.485	0.80722	D	1	P	0.45634	0.863	P	0.49853	0.624	T	0.74797	-0.3543	10	0.72032	D	0.01	.	6.2559	0.20874	0.1437:0.595:0.0:0.2613	.	368	Q16719	KYNU_HUMAN	V	368	ENSP00000264170:L368V;ENSP00000386731:L368V	ENSP00000264170:L368V	L	+	1	2	KYNU	143514527	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.630000	0.37081	1.376000	0.46267	0.655000	0.94253	CTG		0.403	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		28	22	0	0	0	0.007291	0	28	22				
ZEB2	9839	broad.mit.edu	37	2	145157187	145157187	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:145157187T>A	ENST00000558170.2	-	8	2751	c.1567A>T	c.(1567-1569)Aaa>Taa	p.K523*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.K523*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.K523*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.K499*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	523					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.K523E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATAATACTTTTAGTGGCACCA	0.423																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1567-1569)AAA>TAA		zinc finger homeobox 1b							66.0	68.0	68.0					2																	145157187		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157187T>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1567A>T	2.37:g.145157187T>A	ENSP00000454157:p.Lys523*					ZEB2_uc002tvv.2_Nonsense_Mutation_p.K517*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.K494*|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.K552*	p.K523*	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2047	-			523					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.1567A>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	35	5.481059	0.96307	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8031	16.0439	0.80704	0.0:0.0:0.0:1.0	.	.	.	.	X	499;523;523;523	.	ENSP00000302501:K523X	K	-	1	0	ZEB2	144873657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.180000	0.69256	0.528000	0.53228	AAA		0.423	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		19	57	0	0	0	0.006122	0	19	57				
ZEB2	9839	broad.mit.edu	37	2	145274875	145274875	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:145274875G>T	ENST00000558170.2	-	2	1227	c.43C>A	c.(43-45)Cgc>Agc	p.R15S	ZEB2-AS1_ENST00000610265.1_RNA|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000470879.1_Missense_Mutation_p.R15S|ZEB2-AS1_ENST00000595109.1_RNA|ZEB2_ENST00000409487.3_Missense_Mutation_p.R15S|ZEB2_ENST00000303660.4_Missense_Mutation_p.R15S|ZEB2-AS1_ENST00000609376.1_RNA|ZEB2-AS1_ENST00000608361.1_RNA|ZEB2-AS1_ENST00000609819.1_RNA|ZEB2_ENST00000465070.1_Missense_Mutation_p.R15S|ZEB2-AS1_ENST00000427278.3_RNA|ZEB2-AS1_ENST00000602006.1_RNA|ZEB2-AS1_ENST00000609842.1_RNA|ZEB2-AS1_ENST00000421083.1_RNA|ZEB2_ENST00000539609.3_Missense_Mutation_p.R15S|ZEB2-AS1_ENST00000428623.1_RNA|ZEB2_ENST00000462355.1_Missense_Mutation_p.R15S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	15					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTTGTTTGCGCCTCTTGCAC	0.602																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(43-45)CGC>AGC		zinc finger homeobox 1b							142.0	146.0	144.0					2																	145274875		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145274875G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.43C>A	2.37:g.145274875G>T	ENSP00000454157:p.Arg15Ser					ZEB2_uc002tvv.2_Missense_Mutation_p.R10S|ZEB2_uc010zbm.1_Missense_Mutation_p.R10S|ZEB2_uc010fnp.2_Missense_Mutation_p.R10S|ZEB2_uc010fnq.1_Missense_Mutation_p.R44S|ZEB2_uc002tvw.2_Missense_Mutation_p.R10S|ZEB2_uc002tvx.1_RNA|ZEB2_uc002tvy.2_Missense_Mutation_p.R44S|ZEB2_uc002tvz.2_RNA|ZEB2_uc002twa.2_RNA	p.R15S	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	2	523	-			15					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.43C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027313	0.75390	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211;ENST00000435831;ENST00000444559	D;D;D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	3.3	3.3	0.37823	.	0.218242	0.29660	U	0.011527	D	0.94192	0.8136	M	0.67397	2.05	0.34943	D	0.750495	D;D;D;D;D;D	0.89917	1.0;0.987;1.0;0.999;0.962;0.962	D;D;D;D;D;D	0.87578	0.998;0.931;0.995;0.989;0.931;0.931	D	0.97157	0.9835	10	0.87932	D	0	-3.917	15.1374	0.72579	0.0:0.0:1.0:0.0	.	15;15;15;15;15;15	F5H814;B7Z2P2;C9JU62;E7ESP8;A0JP08;O60315	.;.;.;.;.;ZEB2_HUMAN	S	10;15;15;15;15;15;15;15;15	ENSP00000443792:R15S;ENSP00000302501:R15S;ENSP00000386854:R15S;ENSP00000395496:R15S;ENSP00000376601:R15S;ENSP00000387256:R15S;ENSP00000400993:R15S;ENSP00000399451:R15S	ENSP00000302501:R15S	R	-	1	0	ZEB2	144991345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.481000	0.53179	1.789000	0.52484	0.442000	0.29010	CGC		0.602	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		53	46	1	0	1.0442e-30	0.00361	1.74695e-30	53	46				
MBD5	55777	broad.mit.edu	37	2	149247151	149247152	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:149247151_149247152CC>TT	ENST00000407073.1	+	12	4248_4249	c.3251_3252CC>TT	c.(3250-3252)tCC>tTT	p.S1084F	MBD5_ENST00000404807.1_Missense_Mutation_p.S1317F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1084					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGTGATGCTTCCGTAGATGCCA	0.505																																							uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(3250-3252)TCC>TTT		methyl-CpG binding domain protein 5																																				SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247151_149247152CC>TT	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	Exception_encountered	2.37:g.149247151_149247152delinsTT	ENSP00000386049:p.Ser1084Phe					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.S1084F|MBD5_uc002two.2_Missense_Mutation_p.S342F|MBD5_uc002twp.2_Missense_Mutation_p.S134F	p.S1084F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4239_4240	+			1084					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	DNP	ENST00000407073.1	37	c.3251_3252CC>TT	CCDS33302.1																																																																																				0.505	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			43	80	0	0	0	0.004672	0	43	80				
BAZ2B	29994	broad.mit.edu	37	2	160294873	160294873	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:160294873C>A	ENST00000392783.2	-	8	1729	c.1234G>T	c.(1234-1236)Ggg>Tgg	p.G412W	BAZ2B_ENST00000343439.5_Missense_Mutation_p.G410W|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G412W|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G410W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTTATTCCCTGCTTTAAGA	0.338																																							uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(1234-1236)GGG>TGG		bromodomain adjacent to zinc finger domain, 2B							64.0	60.0	62.0					2																	160294873		1805	4073	5878	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160294873C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1234G>T	2.37:g.160294873C>A	ENSP00000376534:p.Gly412Trp					BAZ2B_uc002uap.2_Missense_Mutation_p.G410W|BAZ2B_uc002uas.1_Missense_Mutation_p.G349W|BAZ2B_uc002uau.1_Missense_Mutation_p.G410W|BAZ2B_uc002uaq.1_Missense_Mutation_p.G340W|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.G410W	p.G412W	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			8	1586	-			412					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1234G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028303	0.54790	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.35	5.35	0.76521	.	0.000000	0.37669	U	0.001981	T	0.36826	0.0981	L	0.57536	1.79	0.54753	D	0.999982	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	T	0.07139	-1.0788	10	0.87932	D	0	-7.1407	19.0931	0.93235	0.0:1.0:0.0:0.0	.	410;412;410;410;412	Q6MZK7;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	W	410;412;412;410;349	ENSP00000376533:G410W;ENSP00000376534:G412W;ENSP00000348087:G412W;ENSP00000339670:G410W	ENSP00000339670:G410W	G	-	1	0	BAZ2B	160003119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.624000	0.67764	2.489000	0.83994	0.655000	0.94253	GGG		0.338	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			19	25	1	0	1.33834e-09	0.007413	1.60767e-09	19	25				
CSRNP3	80034	broad.mit.edu	37	2	166451578	166451578	+	Start_Codon_SNP	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:166451578G>T	ENST00000342316.4	+	2	275	c.3G>T	c.(1-3)atG>atT	p.M1I	CSRNP3_ENST00000314499.7_Start_Codon_SNP_p.M1I|CSRNP3_ENST00000409420.1_Missense_Mutation_p.M33I	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	1					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTGCAGCGATGAGTGGAATTT	0.473																																							uc002udf.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(1-3)ATG>ATT		cysteine-serine-rich nuclear protein 3							89.0	83.0	85.0					2																	166451578		2203	4300	6503	SO:0001582	initiator_codon_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166451578G>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.3G>T	2.37:g.166451578G>T	ENSP00000344042:p.Met1Ile					CSRNP3_uc002udg.2_Missense_Mutation_p.M1I	p.M1I	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			4	379	+			1					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.3G>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660494	0.88154	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T	0.15952	2.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	.	.	.	0.80722	D	1	P	0.37573	0.6	B	0.40009	0.316	T	0.00992	-1.1488	9	0.87932	D	0	-20.2187	20.3206	0.98668	0.0:0.0:1.0:0.0	.	1	Q8WYN3	CSRN3_HUMAN	I	1;8;1;1;1;33	ENSP00000387195:M33I	ENSP00000318258:M1I	M	+	3	0	CSRNP3	166159824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.733000	0.84916	2.809000	0.96659	0.655000	0.94253	ATG		0.473	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	Missense_Mutation	14	26	1	0	1.05317e-09	0.00245	1.26985e-09	14	26				
SCN1A	6323	broad.mit.edu	37	2	166894413	166894413	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:166894413G>T	ENST00000303395.4	-	15	2818	c.2819C>A	c.(2818-2820)tCc>tAc	p.S940Y	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S929Y|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S912Y|SCN1A_ENST00000423058.2_Missense_Mutation_p.S940Y|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	940					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCAGGAAGGAGTGGAAGAA	0.507																																							uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2785-2787)TCC>TAC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						284.0	237.0	253.0					2																	166894413		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894413G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2819C>A	2.37:g.166894413G>T	ENSP00000303540:p.Ser940Tyr					SCN1A_uc002udo.3_Missense_Mutation_p.S809Y|SCN1A_uc010fpk.2_Missense_Mutation_p.S781Y	p.S929Y	NM_006920	NP_008851	P35498	SCN1A_HUMAN			15	2804	-			940			II.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2786C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865034	0.91511	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99513	0.9826	H	0.97240	3.965	0.80722	D	1	P;D;D	0.89917	0.94;0.999;1.0	P;D;D	0.87578	0.816;0.998;0.997	D	0.98047	1.0385	10	0.87932	D	0	.	19.0487	0.93032	0.0:0.0:1.0:0.0	.	929;912;940	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	940;940;929;912	ENSP00000407030:S940Y;ENSP00000303540:S940Y;ENSP00000364554:S929Y;ENSP00000386312:S912Y	ENSP00000303540:S940Y	S	-	2	0	SCN1A	166602659	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.748000	0.98867	2.583000	0.87209	0.591000	0.81541	TCC		0.507	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		37	107	1	0	1.30998e-17	0.005524	1.84928e-17	37	107				
XIRP2	129446	broad.mit.edu	37	2	168099742	168099742	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168099742G>C	ENST00000409195.1	+	9	1929	c.1840G>C	c.(1840-1842)Gtg>Ctg	p.V614L	XIRP2_ENST00000295237.9_Missense_Mutation_p.V614L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V392L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	439					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGTGGTGATGTGAAATATAC	0.428																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(1840-1842)GTG>CTG		xin actin-binding repeat containing 2 isoform 1							89.0	92.0	91.0					2																	168099742		1982	4139	6121	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099742G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1840G>C	2.37:g.168099742G>C	ENSP00000386840:p.Val614Leu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V439L|XIRP2_uc010fpq.2_Missense_Mutation_p.V392L|XIRP2_uc010fpr.2_Intron	p.V614L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1858	+			439			Xin 3.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1840G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674536	0.88445	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.75477	-0.94;-0.94;-0.94	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.996	T	0.83064	-0.0146	10	0.72032	D	0.01	-9.9758	19.0979	0.93260	0.0:0.0:1.0:0.0	.	439;439;392	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	614;614;392	ENSP00000386840:V614L;ENSP00000295237:V614L;ENSP00000387255:V392L	ENSP00000295237:V614L	V	+	1	0	XIRP2	167807988	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.768000	0.68858	2.615000	0.88500	0.655000	0.94253	GTG		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	35	0	0	0	0.006122	0	17	35				
XIRP2	129446	broad.mit.edu	37	2	168101926	168101926	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168101926G>T	ENST00000409195.1	+	9	4113	c.4024G>T	c.(4024-4026)Gta>Tta	p.V1342L	XIRP2_ENST00000295237.9_Missense_Mutation_p.V1342L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1120L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1167					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGAAGAGGTAATTCATGG	0.378																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(4024-4026)GTA>TTA		xin actin-binding repeat containing 2 isoform 1							84.0	78.0	80.0					2																	168101926		1862	4105	5967	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101926G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4024G>T	2.37:g.168101926G>T	ENSP00000386840:p.Val1342Leu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V1167L|XIRP2_uc010fpq.2_Missense_Mutation_p.V1120L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.V1342L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4042	+			1167					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4024G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860767	0.32884	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04156	3.69;3.69;3.69	5.78	4.89	0.63831	.	0.257203	0.38548	N	0.001655	T	0.13157	0.0319	M	0.71036	2.16	0.32882	D	0.510725	P;P;P	0.51351	0.802;0.944;0.944	B;P;P	0.50617	0.123;0.646;0.646	T	0.09335	-1.0679	10	0.62326	D	0.03	-7.3536	13.5984	0.62004	0.0763:0.0:0.9237:0.0	.	1167;1167;1120	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	1342;1342;1120	ENSP00000386840:V1342L;ENSP00000295237:V1342L;ENSP00000387255:V1120L	ENSP00000295237:V1342L	V	+	1	0	XIRP2	167810172	1.000000	0.71417	0.990000	0.47175	0.958000	0.62258	2.420000	0.44679	1.429000	0.47314	0.563000	0.77884	GTA		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	17	1	0	5.18039e-06	0.00308	5.70876e-06	7	17				
XIRP2	129446	broad.mit.edu	37	2	168102750	168102750	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168102750G>T	ENST00000409195.1	+	9	4937	c.4848G>T	c.(4846-4848)agG>agT	p.R1616S	XIRP2_ENST00000295237.9_Missense_Mutation_p.R1616S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1394S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1441					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCAAAAGGGACTGTACTG	0.338																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(4846-4848)AGG>AGT		xin actin-binding repeat containing 2 isoform 1							43.0	41.0	42.0					2																	168102750		1820	4078	5898	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102750G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4848G>T	2.37:g.168102750G>T	ENSP00000386840:p.Arg1616Ser					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1441S|XIRP2_uc010fpq.2_Missense_Mutation_p.R1394S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.R1616S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4866	+			1441					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4848G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764808	0.02996	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02682	4.2;4.2;4.2	5.45	1.42	0.22433	.	0.199282	0.52532	N	0.000061	T	0.02888	0.0086	L	0.60455	1.87	0.38864	D	0.956545	B;B;B	0.20052	0.024;0.041;0.041	B;B;B	0.14578	0.003;0.011;0.007	T	0.47522	-0.9111	10	0.22109	T	0.4	-7.3496	3.4659	0.07549	0.4184:0.3792:0.0766:0.1257	.	1441;1441;1394	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	1616;1616;1394	ENSP00000386840:R1616S;ENSP00000295237:R1616S;ENSP00000387255:R1394S	ENSP00000295237:R1616S	R	+	3	2	XIRP2	167810996	0.158000	0.22850	0.977000	0.42913	0.172000	0.22775	0.147000	0.16202	0.032000	0.15435	-0.455000	0.05494	AGG		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	12	1	0	1.52009e-12	0.003163	1.94564e-12	15	12				
XIRP2	129446	broad.mit.edu	37	2	168107960	168107960	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:168107960G>T	ENST00000409195.1	+	9	10147	c.10058G>T	c.(10057-10059)aGa>aTa	p.R3353I	XIRP2_ENST00000295237.9_Missense_Mutation_p.R3353I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3131I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3178					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAAATAGAAGAGTTTATGCA	0.358																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(10057-10059)AGA>ATA		xin actin-binding repeat containing 2 isoform 1							110.0	104.0	106.0					2																	168107960		1852	4105	5957	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107960G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10058G>T	2.37:g.168107960G>T	ENSP00000386840:p.Arg3353Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3178I|XIRP2_uc010fpq.2_Missense_Mutation_p.R3131I|XIRP2_uc010fpr.2_Intron	p.R3353I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10076	+			3178					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.10058G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606018	0.66445	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02812	4.15;4.15;4.15	6.07	4.22	0.49857	.	0.451840	0.26851	N	0.022172	T	0.07908	0.0198	M	0.62723	1.935	0.44055	D	0.996794	D;D;D	0.56746	0.961;0.977;0.977	P;P;P	0.56648	0.64;0.803;0.803	T	0.12319	-1.0552	10	0.42905	T	0.14	-13.8009	7.7094	0.28669	0.1442:0.1351:0.7207:0.0	.	3178;3178;3131	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	3353;3353;3131;767	ENSP00000386840:R3353I;ENSP00000295237:R3353I;ENSP00000387255:R3131I	ENSP00000295237:R3353I	R	+	2	0	XIRP2	167816206	0.637000	0.27216	0.963000	0.40424	0.924000	0.55760	0.640000	0.24705	1.585000	0.49928	0.585000	0.79938	AGA		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		16	59	1	0	2.32078e-09	0.003163	2.78437e-09	16	59				
CCDC173	129881	broad.mit.edu	37	2	170518868	170518868	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:170518868A>T	ENST00000447353.1	-	5	846	c.741T>A	c.(739-741)aaT>aaA	p.N247K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	247																	CATATAATGCATTCTGTCGCT	0.313																																							uc002ufe.2		NA																	0					0						c.(739-741)AAT>AAA		hypothetical protein LOC129881							142.0	138.0	139.0					2																	170518868		1804	4066	5870	SO:0001583	missense	129881							g.chr2:170518868A>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.741T>A	2.37:g.170518868A>T	ENSP00000391504:p.Asn247Lys						p.N247K	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			5	835	-			247			Potential.		Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.741T>A	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031364	0.19590	.	.	ENSG00000154479	ENST00000447353;ENST00000421028	T	0.09723	2.95	4.18	0.596	0.17496	.	0.124641	0.27223	U	0.020346	T	0.10551	0.0258	M	0.63428	1.95	0.20489	N	0.999891	P	0.47841	0.901	P	0.44561	0.453	T	0.24225	-1.0166	10	0.13470	T	0.59	.	6.0107	0.19573	0.5758:0.0:0.4242:0.0	.	247	Q0VFZ6	CB077_HUMAN	K	247;148	ENSP00000391504:N247K	ENSP00000405608:N148K	N	-	3	2	C2orf77	170227114	0.201000	0.23410	0.905000	0.35620	0.919000	0.55068	0.556000	0.23438	0.242000	0.21303	0.529000	0.55759	AAT		0.313	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		34	55	0	0	0	0.002096	0	34	55				
UBR3	130507	broad.mit.edu	37	2	170917604	170917604	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:170917604G>C	ENST00000272793.5	+	34	4851	c.4801G>C	c.(4801-4803)Gaa>Caa	p.E1601Q	UBR3_ENST00000392631.1_Missense_Mutation_p.E422Q|UBR3_ENST00000418381.1_Missense_Mutation_p.E1601Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1601					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATGTGATGCAGAAAAGTCTTA	0.289																																							uc010zdi.1		NA																	0					0						c.(4801-4803)GAA>CAA		E3 ubiquitin-protein ligase UBR3							76.0	80.0	78.0					2																	170917604		2203	4295	6498	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170917604G>C	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4801G>C	2.37:g.170917604G>C	ENSP00000272793:p.Glu1601Gln					UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.E422Q|UBR3_uc002uft.3_Missense_Mutation_p.E458Q|UBR3_uc010zdj.1_Missense_Mutation_p.E292Q|UBR3_uc002ufu.3_Missense_Mutation_p.E107Q	p.E1601Q	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			34	4801	+			1601					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.4801G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.618585|1.618585	0.28801|0.28801	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.9|.	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.178300|.	0.64402|.	N|.	0.000010|.	T|T	0.42765|0.42765	0.1217|0.1217	L|L	0.44542|0.44542	1.39|1.39	0.25712|0.25712	N|N	0.985472|0.985472	B;B;B|.	0.30482|.	0.281;0.0;0.0|.	B;B;B|.	0.22601|.	0.04;0.007;0.001|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.19147|.	T|.	0.46|.	.|.	11.4466|11.4466	0.50127|0.50127	0.068:0.1276:0.8044:0.0|0.068:0.1276:0.8044:0.0	.|.	1601;422;1630|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	Q|H	1601;1630;1601;422;301|662	ENSP00000272793:E1601Q;ENSP00000396068:E1601Q;ENSP00000376408:E422Q;ENSP00000389097:E301Q|.	ENSP00000272793:E1601Q|.	E|Q	+|+	1|3	0|2	UBR3|UBR3	170625850|170625850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	4.111000|4.111000	0.57838|0.57838	1.566000|1.566000	0.49654|0.49654	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.289	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		9	21	0	0	0	0.004482	0	9	21				
MYO3B	140469	broad.mit.edu	37	2	171225814	171225814	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:171225814G>T	ENST00000408978.4	+	9	1041	c.898G>T	c.(898-900)Gtt>Ttt	p.V300F	MYO3B_ENST00000334231.6_Missense_Mutation_p.V309F|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V300F	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	300					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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATGGAAAAGTTCTGTTTCT	0.418																																							uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(898-900)GTT>TTT		myosin IIIB isoform 2							135.0	118.0	123.0					2																	171225814		1830	4104	5934	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171225814G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.898G>T	2.37:g.171225814G>T	ENSP00000386213:p.Val300Phe					MYO3B_uc002ufv.2_Missense_Mutation_p.V287F|MYO3B_uc010fqb.1_Missense_Mutation_p.V287F|MYO3B_uc002ufz.2_Missense_Mutation_p.V300F|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.V287F|MYO3B_uc002ugb.2_RNA	p.V300F	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			9	1041	+			300					B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.898G>T	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.12|16.12	3.033007|3.033007	0.54896|0.54896	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.13901	.|2.55;2.55;2.55;2.55	6.06|6.06	4.27|4.27	0.50696|0.50696	.|Protein kinase-like domain (1);	.|0.256554	.|0.42420	.|D	.|0.000715	T|T	0.15696|0.15696	0.0378|0.0378	L|L	0.36672|0.36672	1.1|1.1	0.31277|0.31277	N|N	0.691108|0.691108	.|P;P;P;P	.|0.48089	.|0.905;0.847;0.903;0.847	.|P;B;P;B	.|0.46940	.|0.521;0.396;0.532;0.396	T|T	0.03221|0.03221	-1.1059|-1.1059	5|10	.|0.54805	.|T	.|0.06	.|.	12.1411|12.1411	0.53998|0.53998	0.0645:0.1211:0.8144:0.0|0.0645:0.1211:0.8144:0.0	.|.	.|300;300;300;300	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	I|F	299|300;300;299;309;309	.|ENSP00000386497:V300F;ENSP00000386213:V300F;ENSP00000446237:V309F;ENSP00000335100:V309F	.|ENSP00000314213:V299F	S|V	+|+	2|1	0|0	MYO3B|MYO3B	170934060|170934060	1.000000|1.000000	0.71417|0.71417	0.246000|0.246000	0.24233|0.24233	0.942000|0.942000	0.58702|0.58702	6.449000|6.449000	0.73473|0.73473	0.892000|0.892000	0.36259|0.36259	0.650000|0.650000	0.86243|0.86243	AGT|GTT		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			20	23	1	0	5.03518e-11	0.007413	6.25436e-11	20	23				
CHN1	1123	broad.mit.edu	37	2	175742768	175742768	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:175742768C>A	ENST00000409900.3	-	6	662	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	CHN1_ENST00000409156.3_Missense_Mutation_p.V117L|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	117	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCATCAGTCACCAGATCGTGG	0.438			T	TAF15	extraskeletal myxoid chondrosarcoma																																		uc002uji.2		NA		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				ovary(2)|skin(1)	3						c.(349-351)GTG>TTG		chimerin (chimaerin) 1 isoform a							163.0	154.0	157.0					2																	175742768		1939	4158	6097	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175742768C>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.349G>T	2.37:g.175742768C>A	ENSP00000386741:p.Val117Leu					CHN1_uc010zeq.1_Missense_Mutation_p.V117L|CHN1_uc002ujj.2_Intron	p.V117L	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		6	879	-			117			SH2.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.349G>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949480	0.92660	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.71817	-0.6;-0.6	5.67	5.67	0.87782	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	M	0.71581	2.175	0.80722	D	1	P;P	0.45827	0.715;0.867	P;P	0.53062	0.636;0.717	T	0.82323	-0.0514	10	0.87932	D	0	.	18.7375	0.91761	0.0:1.0:0.0:0.0	.	117;117	B4DV19;P15882	.;CHIN_HUMAN	L	117	ENSP00000386741:V117L;ENSP00000386470:V117L	ENSP00000386470:V117L	V	-	1	0	CHN1	175451014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.663000	0.90544	0.655000	0.94253	GTG		0.438	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		21	54	1	0	7.41877e-09	0.001882	8.79241e-09	21	54				
PDE11A	50940	broad.mit.edu	37	2	178705003	178705003	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:178705003T>A	ENST00000286063.6	-	6	1792	c.1475A>T	c.(1474-1476)tAc>tTc	p.Y492F	PDE11A_ENST00000358450.4_Missense_Mutation_p.Y242F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.Y134F|PDE11A_ENST00000389683.3_Missense_Mutation_p.Y48F|PDE11A_ENST00000449286.2_Missense_Mutation_p.Y134F	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	492	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CGGATCCTGGTAGGCATCACT	0.463									Primary Pigmented Nodular Adrenocortical Disease, Familial																														uc002ulq.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1474-1476)TAC>TTC		phosphodiesterase 11A isoform 4							111.0	100.0	104.0					2																	178705003		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178705003T>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1475A>T	2.37:g.178705003T>A	ENSP00000286063:p.Tyr492Phe					PDE11A_uc002ulp.2_Missense_Mutation_p.Y48F|PDE11A_uc002ulr.2_Missense_Mutation_p.Y242F|PDE11A_uc002uls.1_Missense_Mutation_p.Y134F|PDE11A_uc002ult.1_Missense_Mutation_p.Y242F|PDE11A_uc002ulu.1_Missense_Mutation_p.Y134F	p.Y492F	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		6	1793	-			492			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1475A>T	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.81|14.81	2.647409|2.647409	0.47258|0.47258	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T	.|0.66815	.|-0.23;-0.23;-0.23;-0.23;-0.23	5.6|5.6	4.37|4.37	0.52481|0.52481	.|GAF (2);	.|0.056824	.|0.64402	.|D	.|0.000001	T|T	0.64483|0.64483	0.2602|0.2602	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|B;B	.|0.11235	.|0.001;0.004	.|B;B	.|0.16289	.|0.003;0.015	T|T	0.60929|0.60929	-0.7165|-0.7165	5|10	.|0.21540	.|T	.|0.41	.|.	11.562|11.562	0.50782|0.50782	0.1337:0.0:0.0:0.8663|0.1337:0.0:0.0:0.8663	.|.	.|242;492	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	S|F	131|492;242;134;48;134	.|ENSP00000286063:Y492F;ENSP00000351232:Y242F;ENSP00000386539:Y134F;ENSP00000374333:Y48F;ENSP00000390599:Y134F	.|ENSP00000286063:Y492F	T|Y	-|-	1|2	0|0	PDE11A|PDE11A	178413249|178413249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.000000|5.000000	0.63940|0.63940	2.133000|2.133000	0.65898|0.65898	0.383000|0.383000	0.25322|0.25322	ACC|TAC		0.463	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			18	23	0	0	0	0.007413	0	18	23				
TTN	7273	broad.mit.edu	37	2	179408974	179408974	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179408974G>T	ENST00000591111.1	-	295	91283	c.91059C>A	c.(91057-91059)agC>agA	p.S30353R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31994R|TTN_ENST00000342175.6_Missense_Mutation_p.S23121R|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22929R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23054R|TTN_ENST00000342992.6_Missense_Mutation_p.S29426R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30353	Fibronectin type-III 121. {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)			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)			CGCTGTATTCGCTCATACCCT	0.413																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(88276-88278)AGC>AGA		titin isoform N2-A							88.0	84.0	85.0					2																	179408974		1884	4115	5999	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408974G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91059C>A	2.37:g.179408974G>T	ENSP00000465570:p.Ser30353Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S23121R|TTN_uc010zfi.1_Missense_Mutation_p.S23054R|TTN_uc010zfj.1_Missense_Mutation_p.S22929R	p.S29426R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	88502	-			30353					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.88278C>A		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465857	0.43839	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	6.17	-1.51	0.08664	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77651	0.4162	M	0.93420	3.415	0.39623	D	0.970059	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.68483	0.958;0.958;0.958;0.958	T	0.80690	-0.1270	9	0.87932	D	0	.	11.1192	0.48279	0.578:0.0:0.422:0.0	.	22929;23054;23121;30353	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	29426;22929;23121;23054;22926	ENSP00000343764:S29426R;ENSP00000434586:S22929R;ENSP00000340554:S23121R;ENSP00000352154:S23054R	ENSP00000340554:S23121R	S	-	3	2	TTN	179117220	0.983000	0.35010	0.994000	0.49952	0.715000	0.41141	0.387000	0.20718	-0.244000	0.09639	-0.302000	0.09304	AGC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	39	1	0	2.32416e-17	0.002299	3.26903e-17	21	39				
TTN	7273	broad.mit.edu	37	2	179435287	179435287	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179435287C>A	ENST00000591111.1	-	276	70873	c.70649G>T	c.(70648-70650)gGa>gTa	p.G23550V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G25191V|TTN_ENST00000342175.6_Missense_Mutation_p.G16318V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16126V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16251V|TTN_ENST00000342992.6_Missense_Mutation_p.G22623V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23550	Ig-like 119.				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)			TGATCTTTCTCCTGCAACATT	0.433																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(67867-67869)GGA>GTA		titin isoform N2-A							78.0	72.0	74.0					2																	179435287		1947	4136	6083	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435287C>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.70649G>T	2.37:g.179435287C>A	ENSP00000465570:p.Gly23550Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16318V|TTN_uc010zfi.1_Missense_Mutation_p.G16251V|TTN_uc010zfj.1_Missense_Mutation_p.G16126V	p.G22623V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	68092	-			23550					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.67868G>T		.	.	.	.	.	.	.	.	.	.	C	12.13	1.847018	0.32606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.37	4.48	0.54585	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87010	0.6071	H	0.99090	4.425	0.80722	D	1	B;B;B;B	0.27316	0.175;0.175;0.175;0.175	B;B;B;B	0.33196	0.159;0.159;0.159;0.159	D	0.88379	0.3000	9	0.87932	D	0	.	15.9476	0.79806	0.1357:0.8643:0.0:0.0	.	16126;16251;16318;23550	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	22623;16126;16318;16251;16124	ENSP00000343764:G22623V;ENSP00000434586:G16126V;ENSP00000340554:G16318V;ENSP00000352154:G16251V	ENSP00000340554:G16318V	G	-	2	0	TTN	179143533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.729000	0.84864	1.358000	0.45922	0.650000	0.86243	GGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	15	1	0	0.00307968	0.00308	0.00318168	8	15				
TTN	7273	broad.mit.edu	37	2	179441953	179441953	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179441953C>A	ENST00000591111.1	-	274	64410	c.64186G>T	c.(64186-64188)Gtc>Ttc	p.V21396F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V23037F|TTN_ENST00000342175.6_Missense_Mutation_p.V14164F|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13972F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14097F|TTN_ENST00000342992.6_Missense_Mutation_p.V20469F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21396					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)			ACATCAAGGACTGTTACCTTC	0.463																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(61405-61407)GTC>TTC		titin isoform N2-A							71.0	68.0	69.0					2																	179441953		1960	4154	6114	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441953C>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.64186G>T	2.37:g.179441953C>A	ENSP00000465570:p.Val21396Phe					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V14164F|TTN_uc010zfi.1_Missense_Mutation_p.V14097F|TTN_uc010zfj.1_Missense_Mutation_p.V13972F|uc002umv.1_5'Flank	p.V20469F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61629	-			21396					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.61405G>T		.	.	.	.	.	.	.	.	.	.	C	15.81	2.942347	0.53079	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.62	5.62	0.85841	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92241	0.7539	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.999;0.996;0.996;0.999	D	0.93761	0.7067	9	0.87932	D	0	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	13972;14097;14164;21396	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	20469;13972;14164;14097;13970	ENSP00000343764:V20469F;ENSP00000434586:V13972F;ENSP00000340554:V14164F;ENSP00000352154:V14097F	ENSP00000340554:V14164F	V	-	1	0	TTN	179150199	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.770000	0.85390	2.818000	0.97014	0.655000	0.94253	GTC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	19	1	0	0.00621372	0.006214	0.00637862	10	19				
TTN	7273	broad.mit.edu	37	2	179598577	179598577	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179598577A>G	ENST00000591111.1	-	51	14812	c.14588T>C	c.(14587-14589)cTa>cCa	p.L4863P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L5180P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L3936P			Q8WZ42	TITIN_HUMAN	titin	12245	Ig-like 29.				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)			TTGTCCTCCTAGTGCAATCAA	0.418																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11806-11808)CTA>CCA		titin isoform N2-A							93.0	89.0	90.0					2																	179598577		1921	4130	6051	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598577A>G	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.14588T>C	2.37:g.179598577A>G	ENSP00000465570:p.Leu4863Pro					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L597P	p.L3936P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12031	-			4863					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.11807T>C		.	.	.	.	.	.	.	.	.	.	A	12.82	2.053537	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.67345	-0.26	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77280	0.4107	L	0.49455	1.56	0.80722	D	1	D	0.65815	0.995	D	0.64776	0.929	T	0.79196	-0.1903	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	4863	Q8WZ42	TITIN_HUMAN	P	3936	ENSP00000343764:L3936P	ENSP00000343764:L3936P	L	-	2	0	TTN	179306822	1.000000	0.71417	0.970000	0.41538	0.894000	0.52154	8.962000	0.93254	2.291000	0.77112	0.533000	0.62120	CTA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	38	0	0	0	0.008871	0	21	38				
TTN	7273	broad.mit.edu	37	2	179613054	179613054	+	Intron	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179613054A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Silent_p.S4691S			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAATACTACTTTTCTCCA	0.308																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14071-14073)AGT>AGC		titin isoform novex-3							72.0	80.0	77.0					2																	179613054		2202	4295	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613054A>G	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.10360+4796T>C	2.37:g.179613054A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S4691S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14297	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.14073T>C																																																																																					0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	29	0	0	0	0.004007	0	17	29				
TTN	7273	broad.mit.edu	37	2	179614488	179614488	+	Intron	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179614488G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Silent_p.S4213S			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATTGGTGGCTACAATTAA	0.348																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12637-12639)AGC>AGT		titin isoform novex-3							46.0	51.0	49.0					2																	179614488		2194	4289	6483	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614488G>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.10360+3362C>T	2.37:g.179614488G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S4213S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12863	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.12639C>T																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	28	0	0	0	0.006214	0	10	28				
TTN	7273	broad.mit.edu	37	2	179629317	179629317	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179629317A>G	ENST00000591111.1	-	42	10149	c.9925T>C	c.(9925-9927)Tat>Cat	p.Y3309H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y3309H|TTN_ENST00000342175.6_Missense_Mutation_p.Y3263H|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y3263H|TTN_ENST00000359218.5_Missense_Mutation_p.Y3263H|TTN_ENST00000342992.6_Missense_Mutation_p.Y3309H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Y3309H			Q8WZ42	TITIN_HUMAN	titin	13636	Ig-like 19.				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)			TCACAGGTATAGACTGCCGCA	0.463																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(9925-9927)TAT>CAT		titin isoform N2-A							114.0	109.0	111.0					2																	179629317		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629317A>G	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.9925T>C	2.37:g.179629317A>G	ENSP00000465570:p.Tyr3309His					TTN_uc010zfh.1_Missense_Mutation_p.Y3263H|TTN_uc010zfi.1_Missense_Mutation_p.Y3263H|TTN_uc010zfj.1_Missense_Mutation_p.Y3263H|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.Y3309H	p.Y3309H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	10149	-			3309					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.9925T>C		.	.	.	.	.	.	.	.	.	.	A	16.36	3.100737	0.56183	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96996	0.9019	H	0.98818	4.34	0.36984	D	0.894422	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.99965	1.1816	9	0.87932	D	0	.	15.956	0.79889	1.0:0.0:0.0:0.0	.	3263;3263;3263;3309;3309	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	3309;3263;3263;3263;3263;3309	ENSP00000343764:Y3309H;ENSP00000434586:Y3263H;ENSP00000340554:Y3263H;ENSP00000352154:Y3263H;ENSP00000354117:Y3309H	ENSP00000340554:Y3263H	Y	-	1	0	TTN	179337562	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.339000	0.96797	2.167000	0.68274	0.533000	0.62120	TAT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	43	0	0	0	0.00361	0	49	43				
TTN	7273	broad.mit.edu	37	2	179634420	179634420	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179634420G>C	ENST00000591111.1	-	37	9112	c.8888C>G	c.(8887-8889)aCc>aGc	p.T2963S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T2963S|TTN_ENST00000342175.6_Missense_Mutation_p.T2917S|TTN_ENST00000460472.2_Missense_Mutation_p.T2917S|TTN_ENST00000359218.5_Missense_Mutation_p.T2917S|TTN_ENST00000342992.6_Missense_Mutation_p.T2963S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T2963S			Q8WZ42	TITIN_HUMAN	titin	13293	Ig-like 16.				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)			GACTGTCAGGGTGGCACTGAC	0.363																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8887-8889)ACC>AGC		titin isoform N2-A							63.0	67.0	66.0					2																	179634420		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634420G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8888C>G	2.37:g.179634420G>C	ENSP00000465570:p.Thr2963Ser					TTN_uc010zfh.1_Missense_Mutation_p.T2917S|TTN_uc010zfi.1_Missense_Mutation_p.T2917S|TTN_uc010zfj.1_Missense_Mutation_p.T2917S|TTN_uc002unb.2_Missense_Mutation_p.T2963S	p.T2963S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	9112	-			2963					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.8888C>G		.	.	.	.	.	.	.	.	.	.	G	13.99	2.402896	0.42613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79028	0.4377	L	0.28400	0.85	0.40205	D	0.977569	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.85130	0.996;0.996;0.996;0.996;0.997	T	0.80686	-0.1272	9	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	2917;2917;2917;2963;2963	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2963;2917;2917;2917;2917;2963	ENSP00000343764:T2963S;ENSP00000434586:T2917S;ENSP00000340554:T2917S;ENSP00000352154:T2917S;ENSP00000354117:T2963S	ENSP00000340554:T2917S	T	-	2	0	TTN	179342665	1.000000	0.71417	0.997000	0.53966	0.832000	0.47134	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	ACC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	33	0	0	0	0.003755	0	34	33				
TTN	7273	broad.mit.edu	37	2	179634423	179634423	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179634423G>T	ENST00000591111.1	-	37	9109	c.8885C>A	c.(8884-8886)gCc>gAc	p.A2962D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2962D|TTN_ENST00000342175.6_Missense_Mutation_p.A2916D|TTN_ENST00000460472.2_Missense_Mutation_p.A2916D|TTN_ENST00000359218.5_Missense_Mutation_p.A2916D|TTN_ENST00000342992.6_Missense_Mutation_p.A2962D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2962D			Q8WZ42	TITIN_HUMAN	titin	13292	Ig-like 16.				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)			TGTCAGGGTGGCACTGACTTG	0.358																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8884-8886)GCC>GAC		titin isoform N2-A							58.0	62.0	61.0					2																	179634423		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634423G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8885C>A	2.37:g.179634423G>T	ENSP00000465570:p.Ala2962Asp					TTN_uc010zfh.1_Missense_Mutation_p.A2916D|TTN_uc010zfi.1_Missense_Mutation_p.A2916D|TTN_uc010zfj.1_Missense_Mutation_p.A2916D|TTN_uc002unb.2_Missense_Mutation_p.A2962D	p.A2962D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	9109	-			2962					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.8885C>A		.	.	.	.	.	.	.	.	.	.	G	14.39	2.520472	0.44866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90707	0.7084	H	0.97340	3.985	0.49687	D	0.999814	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.93116	0.6521	9	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	2916;2916;2916;2962;2962	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2962;2916;2916;2916;2916;2962	ENSP00000343764:A2962D;ENSP00000434586:A2916D;ENSP00000340554:A2916D;ENSP00000352154:A2916D;ENSP00000354117:A2962D	ENSP00000340554:A2916D	A	-	2	0	TTN	179342668	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GCC		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	33	1	0	4.10981e-09	0.005524	4.90036e-09	37	33				
TTN	7273	broad.mit.edu	37	2	179659128	179659128	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179659128G>T	ENST00000591111.1	-	8	1620	c.1396C>A	c.(1396-1398)Cag>Aag	p.Q466K	TTN_ENST00000589042.1_Missense_Mutation_p.Q466K|TTN_ENST00000342175.6_Missense_Mutation_p.Q466K|TTN_ENST00000460472.2_Missense_Mutation_p.Q466K|TTN_ENST00000359218.5_Missense_Mutation_p.Q466K|TTN_ENST00000342992.6_Missense_Mutation_p.Q466K|TTN_ENST00000360870.5_Missense_Mutation_p.Q466K			Q8WZ42	TITIN_HUMAN	titin	0					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)			GCACGTACCTGTTCTTGAGCA	0.562																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1396-1398)CAG>AAG		titin isoform N2-A							233.0	218.0	223.0					2																	179659128		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659128G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1396C>A	2.37:g.179659128G>T	ENSP00000465570:p.Gln466Lys					TTN_uc010zfh.1_Missense_Mutation_p.Q466K|TTN_uc010zfi.1_Missense_Mutation_p.Q466K|TTN_uc010zfj.1_Missense_Mutation_p.Q466K|TTN_uc002unb.2_Missense_Mutation_p.Q466K|TTN_uc010frg.1_Missense_Mutation_p.Q140K	p.Q466K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		8	1620	-			466					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.1396C>A		.	.	.	.	.	.	.	.	.	.	G	16.12	3.034454	0.54896	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.57	5.57	0.84162	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62792	0.2457	L	0.55103	1.725	0.33156	D	0.546352	D;D;D;D;D	0.71674	0.985;0.985;0.985;0.963;0.998	D;D;D;D;D	0.78314	0.981;0.981;0.981;0.973;0.991	T	0.69379	-0.5161	9	0.87932	D	0	.	19.5328	0.95235	0.0:0.0:1.0:0.0	.	466;466;466;466;466	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	466;466;466;466;466;466;62	ENSP00000343764:Q466K;ENSP00000434586:Q466K;ENSP00000340554:Q466K;ENSP00000352154:Q466K;ENSP00000354117:Q466K;ENSP00000405517:Q62K	ENSP00000340554:Q466K	Q	-	1	0	TTN	179367373	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.423000	0.66458	2.780000	0.95670	0.655000	0.94253	CAG		0.562	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	111	1	0	3.13296e-38	0.00361	5.48339e-38	64	111				
TTN	7273	broad.mit.edu	37	2	179664219	179664219	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:179664219C>A	ENST00000591111.1	-	6	1133	c.909G>T	c.(907-909)ccG>ccT	p.P303P	TTN_ENST00000589042.1_Silent_p.P303P|TTN_ENST00000342175.6_Silent_p.P303P|TTN_ENST00000460472.2_Silent_p.P303P|TTN_ENST00000359218.5_Silent_p.P303P|TTN_ENST00000342992.6_Silent_p.P303P|TTN_ENST00000360870.5_Silent_p.P303P			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				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)			TTTACCTGACCGGAGATGGGG	0.562																																							uc002und.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(907-909)CCG>CCT		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							50.0	53.0	52.0					2																	179664219		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664219C>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.909G>T	2.37:g.179664219C>A						TTN_uc010zfg.1_Silent_p.P303P|TTN_uc010zfh.1_Silent_p.P303P|TTN_uc010zfi.1_Silent_p.P303P|TTN_uc010zfj.1_Silent_p.P303P|TTN_uc002unb.2_Silent_p.P303P	p.P303P			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	1134	-			303					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.909G>T																																																																																					0.562	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	27	1	0	1.12875e-08	0.00632	1.33599e-08	27	27				
CWC22	57703	broad.mit.edu	37	2	180810056	180810056	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:180810056T>A	ENST00000410053.3	-	20	2826	c.2527A>T	c.(2527-2529)Agt>Tgt	p.S843C	CWC22_ENST00000295749.6_Missense_Mutation_p.S843C	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	843					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AAATTTTCACTGTCTTTAATT	0.343																																							uc010frh.1		NA																	0					0						c.(2527-2529)AGT>TGT		CWC22 spliceosome-associated protein homolog							170.0	157.0	161.0					2																	180810056		1822	4076	5898	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810056T>A		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2527A>T	2.37:g.180810056T>A	ENSP00000387006:p.Ser843Cys					CWC22_uc002uno.2_Missense_Mutation_p.S365C|CWC22_uc002unp.2_Missense_Mutation_p.S843C	p.S843C	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			20	2827	-			843					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.2527A>T	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	7.895	0.733116	0.15507	.	.	ENSG00000163510	ENST00000410053;ENST00000295749	T;T	0.24151	1.87;1.87	5.23	-0.218	0.13142	.	0.431258	0.27861	N	0.017544	T	0.18467	0.0443	L	0.50333	1.59	0.28543	N	0.91202	P	0.39131	0.661	B	0.36186	0.219	T	0.10776	-1.0615	10	0.66056	D	0.02	-7.1768	5.6115	0.17408	0.0:0.3115:0.1381:0.5505	.	843	Q9HCG8	CWC22_HUMAN	C	843	ENSP00000387006:S843C;ENSP00000295749:S843C	ENSP00000295749:S843C	S	-	1	0	CWC22	180518301	0.698000	0.27777	0.994000	0.49952	0.068000	0.16541	0.154000	0.16343	0.082000	0.17018	-1.044000	0.02363	AGT		0.343	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		29	51	0	0	0	0.00632	0	29	51				
NEUROD1	4760	broad.mit.edu	37	2	182543242	182543242	+	Missense_Mutation	SNP	C	C	G	rs369944216		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:182543242C>G	ENST00000295108.3	-	2	803	c.346G>C	c.(346-348)Gga>Cga	p.G116R	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	116	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCGTTCAGTCCGTGCATGCGG	0.552																																							uc002uof.2		NA																	0				ovary(1)	1						c.(346-348)GGA>CGA		neurogenic differentiation 1							88.0	81.0	83.0					2																	182543242		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543242C>G	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.346G>C	2.37:g.182543242C>G	ENSP00000295108:p.Gly116Arg					CERKL_uc002uod.1_Intron	p.G116R	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	582	-			116			Helix-loop-helix motif.		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.346G>C	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	35	5.439735	0.96168	.	.	ENSG00000162992	ENST00000295108	D	0.97328	-4.34	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98058	0.9360	M	0.63843	1.955	0.80722	D	1	D	0.56287	0.975	D	0.66602	0.945	D	0.98444	1.0588	10	0.87932	D	0	-21.9944	19.4236	0.94732	0.0:1.0:0.0:0.0	.	116	Q13562	NDF1_HUMAN	R	116	ENSP00000295108:G116R	ENSP00000295108:G116R	G	-	1	0	NEUROD1	182251487	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGA		0.552	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		17	32	0	0	0	0.007413	0	17	32				
PDE1A	5136	broad.mit.edu	37	2	183129066	183129066	+	Silent	SNP	C	C	T	rs146558594	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:183129066C>T	ENST00000410103.1	-	3	260	c.177G>A	c.(175-177)gcG>gcA	p.A59A	PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Silent_p.A43A|PDE1A_ENST00000409365.1_Silent_p.A43A|PDE1A_ENST00000456212.1_Silent_p.A59A|PDE1A_ENST00000331935.6_Silent_p.A59A|PDE1A_ENST00000358139.2_Silent_p.A59A|PDE1A_ENST00000435564.1_Silent_p.A59A	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	59					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCACAGATGCCGCATATTCAA	0.378													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17167	0.0		0.0	False		,,,				2504	0.0						uc002uos.2		NA																	0				skin(2)|ovary(1)	3						c.(175-177)GCG>GCA		phosphodiesterase 1A isoform 2		C	,	1,4403	2.1+/-5.4	0,1,2201	118.0	111.0	114.0		177,177	-3.2	1.0	2	dbSNP_134	114	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	PDE1A	NM_001003683.1,NM_005019.3	,	0,6,6496	TT,TC,CC		0.0581,0.0227,0.0461	,	59/536,59/546	183129066	6,12998	2202	4300	6502	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183129066C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.177G>A	2.37:g.183129066C>T						PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.A59A|PDE1A_uc010zfq.1_Silent_p.A59A|PDE1A_uc002uor.2_Silent_p.A43A|PDE1A_uc002uov.1_RNA	p.A59A	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		3	261	-			59					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.177G>A	CCDS33344.1																																																																																				0.378	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			15	24	0	0	0	0.007413	0	15	24				
ZNF804A	91752	broad.mit.edu	37	2	185802586	185802586	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:185802586C>A	ENST00000302277.6	+	4	3057	c.2463C>A	c.(2461-2463)ccC>ccA	p.P821P		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GATTCCACCCCGGATTTGAAA	0.388																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2461-2463)CCC>CCA		zinc finger protein 804A							42.0	49.0	47.0					2																	185802586		2199	4299	6498	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185802586C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2463C>A	2.37:g.185802586C>A							p.P821P	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3057	+			821					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.2463C>A	CCDS2291.1																																																																																				0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		11	35	1	0	6.40141e-05	0.000978	6.88944e-05	11	35				
ZNF804A	91752	broad.mit.edu	37	2	185803269	185803269	+	Missense_Mutation	SNP	G	G	C	rs200076566		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:185803269G>C	ENST00000302277.6	+	4	3740	c.3146G>C	c.(3145-3147)tGt>tCt	p.C1049S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1049							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATGTACCATGTGAGGTCTAC	0.463																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3145-3147)TGT>TCT		zinc finger protein 804A							83.0	76.0	78.0					2																	185803269		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803269G>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3146G>C	2.37:g.185803269G>C	ENSP00000303252:p.Cys1049Ser						p.C1049S	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3740	+			1049					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3146G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578513	0.28180	.	.	ENSG00000170396	ENST00000302277	T	0.05513	3.43	5.09	4.21	0.49690	.	0.000000	0.49916	D	0.000130	T	0.07593	0.0191	L	0.57536	1.79	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.23583	-1.0184	10	0.33940	T	0.23	-3.9805	8.9384	0.35713	0.0851:0.1617:0.7531:0.0	.	1049	Q7Z570	Z804A_HUMAN	S	1049	ENSP00000303252:C1049S	ENSP00000303252:C1049S	C	+	2	0	ZNF804A	185511514	0.976000	0.34144	0.649000	0.29536	0.833000	0.47200	2.006000	0.40874	1.132000	0.42129	0.467000	0.42956	TGT		0.463	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		24	45	0	0	0	0.00278	0	24	45				
FAM171B	165215	broad.mit.edu	37	2	187604953	187604953	+	Splice_Site	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:187604953A>C	ENST00000304698.5	+	2	441		c.e2-1			NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B							integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTTTCTCTCCAGTGTCTGTAT	0.368																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.e2-2		KIAA1946							60.0	54.0	56.0					2																	187604953		2203	4300	6503	SO:0001630	splice_region_variant	165215					integral to membrane	DNA binding	g.chr2:187604953A>C	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.239-1A>C	2.37:g.187604953A>C						FAM171B_uc002upr.1_Splice_Site_p.V80_splice	p.V80_splice	NM_177454	NP_803237	Q6P995	F171B_HUMAN			2	351	+								Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Splice_Site	SNP	ENST00000304698.5	37	c.239_splice	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774121	0.69992	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1956	0.73084	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM171B	187313198	1.000000	0.71417	0.964000	0.40570	0.656000	0.38851	8.419000	0.90253	2.323000	0.78572	0.528000	0.53228	.		0.368	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	Intron	12	10	0	0	0	0.000978	0	12	10				
ZSWIM2	151112	broad.mit.edu	37	2	187702221	187702221	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:187702221A>T	ENST00000295131.2	-	5	594	c.555T>A	c.(553-555)agT>agA	p.S185R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	185					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTTTGATGTACTCTGATAAT	0.343																																							uc002upu.1		NA																	0				ovary(2)|skin(1)	3						c.(553-555)AGT>AGA		zinc finger, SWIM domain containing 2							84.0	84.0	84.0					2																	187702221		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702221A>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.555T>A	2.37:g.187702221A>T	ENSP00000295131:p.Ser185Arg						p.S185R	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	595	-			185			RING-type 1.		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.555T>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	3.689	-0.063882	0.07273	.	.	ENSG00000163012	ENST00000295131	T	0.63580	-0.05	5.97	-2.59	0.06209	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.751023	0.12188	N	0.491483	T	0.21062	0.0507	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29941	-0.9995	10	0.09843	T	0.71	-1.5826	4.1768	0.10356	0.2713:0.0:0.2297:0.499	.	185	Q8NEG5	ZSWM2_HUMAN	R	185	ENSP00000295131:S185R	ENSP00000295131:S185R	S	-	3	2	ZSWIM2	187410466	0.000000	0.05858	0.009000	0.14445	0.660000	0.38997	-0.251000	0.08818	-0.412000	0.07519	0.482000	0.46254	AGT		0.343	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		16	21	0	0	0	0.003163	0	16	21				
COL5A2	1290	broad.mit.edu	37	2	189899755	189899755	+	Missense_Mutation	SNP	C	C	G	rs139229616		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:189899755C>G	ENST00000374866.3	-	53	4514	c.4240G>C	c.(4240-4242)Gat>Cat	p.D1414H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1414	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTAGCTTGATCGTCCATGTAT	0.383																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(4240-4242)GAT>CAT		alpha 2 type V collagen preproprotein							162.0	153.0	156.0					2																	189899755		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899755C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4240G>C	2.37:g.189899755C>G	ENSP00000364000:p.Asp1414His					COL5A2_uc010frx.2_Missense_Mutation_p.D990H	p.D1414H	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4515	-			1414			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4240G>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056378	0.55325	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.73469	-0.75	5.66	5.66	0.87406	Fibrillar collagen, C-terminal (4);	0.126782	0.34507	N	0.003905	D	0.82683	0.5090	L	0.54323	1.7	0.49915	D	0.99983	D;D	0.54397	0.966;0.966	P;P	0.59948	0.866;0.809	T	0.82068	-0.0640	10	0.49607	T	0.09	.	19.7297	0.96177	0.0:1.0:0.0:0.0	.	1054;1414	Q5PR22;P05997	.;CO5A2_HUMAN	H	1414;1054	ENSP00000364000:D1414H	ENSP00000364000:D1414H	D	-	1	0	COL5A2	189608000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.928000	0.63447	2.658000	0.90341	0.650000	0.86243	GAT		0.383	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		20	42	0	0	0	0.010504	0	20	42				
COL5A2	1290	broad.mit.edu	37	2	189923591	189923591	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:189923591C>A	ENST00000374866.3	-	32	2388	c.2114G>T	c.(2113-2115)gGc>gTc	p.G705V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	705					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTAACGGGCCAACTGCTCC	0.358																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(2113-2115)GGC>GTC		alpha 2 type V collagen preproprotein							44.0	45.0	44.0					2																	189923591		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189923591C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2114G>T	2.37:g.189923591C>A	ENSP00000364000:p.Gly705Val					COL5A2_uc010frx.2_Missense_Mutation_p.G281V	p.G705V	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		32	2389	-			705					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2114G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841891	0.71488	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99637	-6.29	5.61	5.61	0.85477	.	0.000000	0.53938	D	0.000057	D	0.99792	0.9912	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.998;0.999	D	0.97149	0.9830	9	.	.	.	.	19.2609	0.93967	0.0:1.0:0.0:0.0	.	345;705	Q5PR22;P05997	.;CO5A2_HUMAN	V	705;345	ENSP00000364000:G705V	.	G	-	2	0	COL5A2	189631836	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.704000	0.68347	2.635000	0.89317	0.563000	0.77884	GGC		0.358	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		8	20	1	0	0.00621372	0.006214	0.00637862	8	20				
C2orf88	84281	broad.mit.edu	37	2	190788274	190788274	+	Intron	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:190788274T>C	ENST00000478197.1	+	1	219							Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88							plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						CAGGAGAGGATGGCAGAATGA	0.483																																							uc002uro.2		NA																	0					NA						c.(211-213)GAT>GAC		SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C;																																				SO:0001627	intron_variant	0							g.chr2:190788274T>C	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000478197.1:c.219+43721T>C	2.37:g.190788274T>C							p.D71D							1	356	+								D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000478197.1	37	c.213T>C																																																																																					0.483	C2orf88-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334952.1	NM_032321		26	52	0	0	0	0.003954	0	26	52				
SDPR	8436	broad.mit.edu	37	2	192701327	192701327	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:192701327C>A	ENST00000304141.4	-	2	929	c.600G>T	c.(598-600)gtG>gtT	p.V200V		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			AGGAGAGGTCCACGGTGTGCA	0.532																																							uc002utb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(598-600)GTG>GTT		serum deprivation response protein	Phosphatidylserine(DB00144)						80.0	86.0	84.0					2																	192701327		2203	4300	6503	SO:0001819	synonymous_variant	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701327C>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.600G>T	2.37:g.192701327C>A							p.V200V	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	930	-			200						Silent	SNP	ENST00000304141.4	37	c.600G>T	CCDS2313.1																																																																																				0.532	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		21	37	1	0	1.01871e-10	0.008871	1.2557e-10	21	37				
DNAH7	56171	broad.mit.edu	37	2	196681586	196681586	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:196681586T>A	ENST00000312428.6	-	51	9627	c.9527A>T	c.(9526-9528)aAg>aTg	p.K3176M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3176	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCAAGGCCTTGGAGGAAGA	0.393																																							uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(9526-9528)AAG>ATG		dynein, axonemal, heavy chain 7							98.0	99.0	99.0					2																	196681586		1849	4093	5942	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681586T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9527A>T	2.37:g.196681586T>A	ENSP00000311273:p.Lys3176Met						p.K3176M	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			51	9628	-			3176			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9527A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564686	0.86439	.	.	ENSG00000118997	ENST00000312428	T	0.68765	-0.35	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92968	0.6395	10	0.87932	D	0	.	14.9846	0.71336	0.0:0.0:0.0:1.0	.	3176	Q8WXX0	DYH7_HUMAN	M	3176	ENSP00000311273:K3176M	ENSP00000311273:K3176M	K	-	2	0	DNAH7	196389831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.205000	0.71048	0.482000	0.46254	AAG		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		18	27	0	0	0	0.007413	0	18	27				
NDUFS1	4719	broad.mit.edu	37	2	206994966	206994966	+	Splice_Site	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:206994966C>T	ENST00000233190.6	-	15	1820	c.1554G>A	c.(1552-1554)agG>agA	p.R518R	NDUFS1_ENST00000455934.2_Splice_Site_p.R532R|NDUFS1_ENST00000432169.1_Splice_Site_p.R407R|NDUFS1_ENST00000423725.1_Splice_Site_p.R461R|NDUFS1_ENST00000457011.1_Splice_Site_p.R402R|NDUFS1_ENST00000440274.1_Splice_Site_p.R482R|NDUFS1_ENST00000449699.1_Splice_Site_p.R518R	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	518					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GACTTGCAATCCTGCAAAGCA	0.388																																							uc002vbe.2		NA																	0				ovary(1)	1						c.(1552-1554)AGG>AGA		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						62.0	59.0	60.0					2																	206994966		2203	4300	6503	SO:0001630	splice_region_variant	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:206994966C>T		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1554-1G>A	2.37:g.206994966C>T						NDUFS1_uc010ziq.1_Silent_p.R532R|NDUFS1_uc010zir.1_Silent_p.R482R|NDUFS1_uc010zis.1_Silent_p.R461R|NDUFS1_uc010zit.1_Silent_p.R407R|NDUFS1_uc010ziu.1_Silent_p.R402R	p.R518R	NM_005006	NP_004997	P28331	NDUS1_HUMAN			15	1681	-			518					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	c.1554G>A	CCDS2366.1																																																																																				0.388	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	Silent	7	20	0	0	0	0.004482	0	7	20				
MDH1B	130752	broad.mit.edu	37	2	207621757	207621757	+	Missense_Mutation	SNP	T	T	C	rs201485898		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:207621757T>C	ENST00000374412.3	-	4	553	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	MDH1B_ENST00000392214.2_Missense_Mutation_p.Y93C|MDH1B_ENST00000454776.2_Missense_Mutation_p.Y93C|MDH1B_ENST00000449792.1_5'UTR	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	93					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GGTGACATCATAATAAAGCTA	0.363													T|||	1	0.000199681	0.0	0.0014	5008	,	,		18145	0.0		0.0	False		,,,				2504	0.0				Pancreas(76;29 1355 28675 37177 51207)	Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(277-279)TAT>TGT		malate dehydrogenase 1B, NAD (soluble)							78.0	74.0	75.0					2																	207621757		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207621757T>C		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.278A>G	2.37:g.207621757T>C	ENSP00000363533:p.Tyr93Cys					MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.Y93C|MDH1B_uc010fuj.2_5'UTR|MDH1B_uc002vbt.2_RNA	p.Y93C	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	4	333	-			93					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.278A>G	CCDS33365.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	15.70	2.911614	0.52439	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.59638	0.25;0.25;0.25	6.08	6.08	0.98989	.	0.058495	0.64402	D	0.000001	T	0.78117	0.4233	M	0.81802	2.56	0.49389	D	0.999788	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80961	-0.1148	10	0.87932	D	0	-18.3815	16.6438	0.85155	0.0:0.0:0.0:1.0	.	93;93	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	C	93	ENSP00000363533:Y93C;ENSP00000389916:Y93C;ENSP00000376049:Y93C	ENSP00000363533:Y93C	Y	-	2	0	MDH1B	207330002	1.000000	0.71417	0.921000	0.36526	0.049000	0.14656	6.929000	0.75852	2.333000	0.79357	0.533000	0.62120	TAT		0.363	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		13	12	0	0	0	0.003163	0	13	12				
CREB1	1385	broad.mit.edu	37	2	208461697	208461697	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:208461697G>A	ENST00000432329.2	+	9	1192	c.941G>A	c.(940-942)aGa>aAa	p.R314K	CREB1_ENST00000430624.1_Missense_Mutation_p.R300K|CREB1_ENST00000353267.3_Missense_Mutation_p.R300K|METTL21A_ENST00000425132.1_Intron|CREB1_ENST00000374397.4_Missense_Mutation_p.R203K|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	314	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.	Required for binding TORCs.			activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|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)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	TTAGAAAACAGAGTGGCAGTG	0.358			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																		uc002vcc.2		NA		Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		clear cell sarcoma|angiomatoid fibrous histiocytoma	EWSR1/CREB1(42)	0				soft_tissue(42)|breast(1)|central_nervous_system(1)	44						c.(940-942)AGA>AAA		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						97.0	98.0	98.0					2																	208461697		2203	4300	6503	SO:0001583	missense	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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		protein dimerization activity|transcription cofactor activity	g.chr2:208461697G>A	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.941G>A	2.37:g.208461697G>A	ENSP00000387699:p.Arg314Lys					CREB1_uc002vcd.2_Missense_Mutation_p.R300K|FAM119A_uc002vce.2_Intron	p.R314K	NM_134442	NP_604391	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	9	1192	+			314			Leucine-zipper.	Required for binding TORCs.	P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	ENST00000432329.2	37	c.941G>A	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005654	0.93287	.	.	ENSG00000118260	ENST00000430624;ENST00000236996;ENST00000432329;ENST00000353267;ENST00000374397	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.98	5.98	0.97165	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	L	0.56340	1.77	0.80722	D	1	D;D	0.69078	0.997;0.992	D;D	0.79108	0.992;0.987	T	0.66484	-0.5912	10	0.87932	D	0	-16.3233	19.4248	0.94737	0.0:0.0:1.0:0.0	.	300;314	Q53X93;P16220	.;CREB1_HUMAN	K	300;24;314;300;203	ENSP00000405539:R300K;ENSP00000387699:R314K;ENSP00000236995:R300K;ENSP00000363518:R203K	ENSP00000236996:R24K	R	+	2	0	CREB1	208169942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	AGA		0.358	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		16	25	0	0	0	0.007413	0	16	25				
PLEKHM3	389072	broad.mit.edu	37	2	208866251	208866252	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:208866251_208866252CC>AG	ENST00000427836.2	-	2	601_602	c.112_113GG>CT	c.(112-114)GGg>CTg	p.G38L	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.G38L|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.G38L	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	38					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTGGATCCCATAAACCTCT	0.485																																							uc002vcl.2		NA																	0				ovary(1)	1						c.(112-114)GGG>CTG		pleckstrin homology domain containing, family M,																																				SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208866251_208866252CC>AG	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.112_113delinsAG	2.37:g.208866251_208866252delinsAG	ENSP00000417003:p.Gly38Leu					PLEKHM3_uc002vcm.2_Missense_Mutation_p.G38L	p.G38L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			2	602_603	-			38					B9EKV2|Q8WW68	Missense_Mutation	DNP	ENST00000427836.2	37	c.112_113GG>CT	CCDS42808.1																																																																																				0.485	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		49	70	0	0	0	0.004672	0	49	70				
CRYGC	1420	broad.mit.edu	37	2	208994375	208994375	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:208994375G>T	ENST00000282141.3	-	2	79	c.42C>A	c.(40-42)ggC>ggA	p.G14G		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	14	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGTAGCTGCGGCCCTGGAAGG	0.517																																							uc002vco.3		NA																	0					0						c.(40-42)GGC>GGA		crystallin, gamma C							130.0	142.0	138.0					2																	208994375		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994375G>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.42C>A	2.37:g.208994375G>T							p.G14G	NM_020989	NP_066269	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	80	-			14			Beta/gamma crystallin 'Greek key' 1.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.42C>A	CCDS2379.1																																																																																				0.517	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		62	93	1	0	1.48873e-21	0.00361	2.25113e-21	62	93				
UNC80	285175	broad.mit.edu	37	2	210640637	210640637	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:210640637A>G	ENST00000439458.1	+	3	246	c.166A>G	c.(166-168)Aac>Gac	p.N56D	UNC80_ENST00000272845.6_Missense_Mutation_p.N56D|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	56					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GTTGGTAGAAAACAAGCTGCA	0.438																																							uc010zjc.1		NA																	0					0						c.(166-168)AAC>GAC		chromosome 2 open reading frame 21 isoform 1							118.0	115.0	116.0					2																	210640637		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210640637A>G	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.166A>G	2.37:g.210640637A>G	ENSP00000391088:p.Asn56Asp					UNC80_uc002vdj.1_Missense_Mutation_p.N56D	p.N56D	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			3	246	+			56					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.166A>G	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951052	0.92660	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.41758	0.99;1.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.58583	1.82	0.80722	D	1	D;D	0.69078	0.974;0.997	D;D	0.70487	0.969;0.933	T	0.63283	-0.6672	10	0.72032	D	0.01	.	15.0999	0.72266	1.0:0.0:0.0:0.0	.	56;56	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	D	56	ENSP00000391088:N56D;ENSP00000272845:N56D	ENSP00000272845:N56D	N	+	1	0	UNC80	210348882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.831000	0.92068	2.230000	0.72887	0.528000	0.53228	AAC		0.438	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		36	61	0	0	0	0.004289	0	36	61				
CPS1	1373	broad.mit.edu	37	2	211465408	211465408	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:211465408A>C	ENST00000233072.5	+	15	1875	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	CPS1_ENST00000451903.2_Missense_Mutation_p.K109T|CPS1_ENST00000430249.2_Missense_Mutation_p.K566T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	560	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATCAATGAAAAGATTGCTCCA	0.393																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1678-1680)AAG>ACG		carbamoyl-phosphate synthetase 1 isoform b							124.0	126.0	125.0					2																	211465408		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211465408A>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1679A>C	2.37:g.211465408A>C	ENSP00000233072:p.Lys560Thr					CPS1_uc010fur.2_Missense_Mutation_p.K566T|CPS1_uc010fus.2_Missense_Mutation_p.K109T	p.K560T	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	15	1811	+			560			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1679A>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322999	0.60634	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97209	-4.29;-4.29;-4.29	5.09	2.71	0.32032	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.147080	0.64402	D	0.000011	D	0.96494	0.8856	M	0.80616	2.505	0.36629	D	0.876196	P;P	0.49783	0.928;0.928	P;P	0.49361	0.608;0.608	D	0.95025	0.8164	10	0.56958	D	0.05	-15.0515	5.657	0.17648	0.7088:0.1427:0.1484:0.0	.	570;560	Q59HF8;P31327	.;CPSM_HUMAN	T	566;568;560;109	ENSP00000402608:K566T;ENSP00000233072:K560T;ENSP00000406136:K109T	ENSP00000233072:K560T	K	+	2	0	CPS1	211173653	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	3.970000	0.56824	0.363000	0.24346	0.377000	0.23210	AAG		0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			36	37	0	0	0	0.004289	0	36	37				
SPAG16	79582	broad.mit.edu	37	2	214174813	214174813	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:214174813G>T	ENST00000331683.5	+	4	405	c.310G>T	c.(310-312)Gca>Tca	p.A104S	SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000272898.7_Missense_Mutation_p.A104S|SPAG16_ENST00000447990.1_Missense_Mutation_p.A104S|SPAG16_ENST00000432529.2_Missense_Mutation_p.A104S|SPAG16_ENST00000413312.1_Missense_Mutation_p.A73S|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	104					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCAAAGCATGCAGTACCTGA	0.323																																							uc002veq.2		NA																	0				ovary(1)|skin(1)	2						c.(310-312)GCA>TCA		sperm associated antigen 16 isoform 1							125.0	130.0	128.0					2																	214174813		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214174813G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.310G>T	2.37:g.214174813G>T	ENSP00000332592:p.Ala104Ser					SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Missense_Mutation_p.A50S|SPAG16_uc010zjk.1_Intron|SPAG16_uc002veo.2_Missense_Mutation_p.A104S|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.A73S	p.A104S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	4	402	+		Renal(323;0.00461)	104					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.310G>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	4.408	0.075395	0.08485	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990	T	0.54675	0.56	5.48	0.358	0.16084	.	0.869571	0.10195	N	0.704099	T	0.22205	0.0535	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.14438	0.01;0.005;0.003;0.001	B;B;B;B	0.19946	0.027;0.002;0.002;0.002	T	0.23619	-1.0183	10	0.08381	T	0.77	.	2.4262	0.04460	0.1611:0.2944:0.4055:0.139	.	73;44;104;104	Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;SPG16_HUMAN;.	S	104;104;73;104;104	ENSP00000332592:A104S	ENSP00000272898:A104S	A	+	1	0	SPAG16	213883058	0.003000	0.15002	0.000000	0.03702	0.935000	0.57460	1.086000	0.30853	-0.148000	0.11234	0.561000	0.74099	GCA		0.323	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		14	22	1	0	1.3612e-06	0.003163	1.52348e-06	14	22				
FN1	2335	broad.mit.edu	37	2	216262534	216262534	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:216262534C>G	ENST00000359671.1	-	22	3651	c.3386G>C	c.(3385-3387)cGa>cCa	p.R1129P	FN1_ENST00000336916.4_Missense_Mutation_p.R1129P|FN1_ENST00000354785.4_Missense_Mutation_p.R1129P|FN1_ENST00000443816.1_Missense_Mutation_p.R1129P|FN1_ENST00000421182.1_Missense_Mutation_p.R1129P|FN1_ENST00000446046.1_Missense_Mutation_p.R1129P|FN1_ENST00000345488.5_Missense_Mutation_p.R1129P|FN1_ENST00000356005.4_Missense_Mutation_p.R1129P|FN1_ENST00000432072.2_Missense_Mutation_p.R1129P|FN1_ENST00000346544.3_Missense_Mutation_p.R1129P|FN1_ENST00000323926.6_Missense_Mutation_p.R1129P|FN1_ENST00000357867.4_Missense_Mutation_p.R1129P|FN1_ENST00000357009.2_Missense_Mutation_p.R1129P			P02751	FINC_HUMAN	fibronectin 1	1129	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGTCACTTCTCGTGGTGCCTC	0.498																																							uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(3385-3387)CGA>CCA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153.0	124.0	134.0					2																	216262534		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216262534C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3386G>C	2.37:g.216262534C>G	ENSP00000352696:p.Arg1129Pro					FN1_uc002vfb.2_Missense_Mutation_p.R1129P|FN1_uc002vfc.2_Missense_Mutation_p.R1129P|FN1_uc002vfd.2_Missense_Mutation_p.R1129P|FN1_uc002vfe.2_Missense_Mutation_p.R1129P|FN1_uc002vff.2_Missense_Mutation_p.R1129P|FN1_uc002vfg.2_Missense_Mutation_p.R1129P|FN1_uc002vfh.2_Missense_Mutation_p.R1129P|FN1_uc002vfi.2_Missense_Mutation_p.R1129P|FN1_uc002vfj.2_Missense_Mutation_p.R1129P	p.R1129P	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	22	3652	-		Renal(323;0.127)	1129			|Fibronectin type-III 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3386G>C		.	.	.	.	.	.	.	.	.	.	C	19.79	3.893538	0.72639	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.36	4.48	0.54585	.	0.204074	0.33610	N	0.004733	T	0.67961	0.2949	L	0.58101	1.795	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.995;0.998;0.998;0.999;0.995;1.0;0.998;0.998;0.998	T	0.70212	-0.4934	10	0.56958	D	0.05	.	13.9059	0.63836	0.0:0.9269:0.0:0.0731	.	1129;1129;1129;1129;1129;1129;1129;1129;1129;1129	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	P	1129	ENSP00000394423:R1129P;ENSP00000323534:R1129P;ENSP00000338200:R1129P;ENSP00000350534:R1129P;ENSP00000346839:R1129P;ENSP00000352696:R1129P;ENSP00000265312:R1129P;ENSP00000273049:R1129P;ENSP00000349509:R1129P;ENSP00000410422:R1129P;ENSP00000415018:R1129P;ENSP00000399538:R1129P;ENSP00000348285:R1129P	ENSP00000265313:R1129P	R	-	2	0	FN1	215970779	1.000000	0.71417	0.967000	0.41034	0.948000	0.59901	3.053000	0.49901	1.396000	0.46663	0.591000	0.81541	CGA		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		23	39	0	0	0	0.007291	0	23	39				
XRCC5	7520	broad.mit.edu	37	2	216995607	216995607	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:216995607A>G	ENST00000392133.3	+	11	1408	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.Y316C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	316	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GGGTTCCGCTATGGAAGTGAT	0.388								Non-homologous end-joining																															uc002vfy.2		NA																	0				lung(1)|kidney(1)	2						c.(946-948)TAT>TGT	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							113.0	112.0	113.0					2																	216995607		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216995607A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.947A>G	2.37:g.216995607A>G	ENSP00000375978:p.Tyr316Cys					XRCC5_uc002vfz.2_Missense_Mutation_p.Y202C	p.Y316C	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	9	1087	+		Renal(323;0.0328)	316			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.947A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087125	0.76642	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.37411	1.2;1.2	5.26	5.26	0.73747	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74768	-0.3553	10	0.87932	D	0	.	14.4961	0.67688	1.0:0.0:0.0:0.0	.	316	P13010	XRCC5_HUMAN	C	316	ENSP00000375978:Y316C;ENSP00000375977:Y316C	ENSP00000375977:Y316C	Y	+	2	0	XRCC5	216703852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.205000	0.71048	0.482000	0.46254	TAT		0.388	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		13	19	0	0	0	0.001368	0	13	19				
MARCH4	57574	broad.mit.edu	37	2	217234468	217234468	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:217234468C>G	ENST00000273067.4	-	1	2282	c.516G>C	c.(514-516)caG>caC	p.Q172H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	172						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGGGACTCACCTGTTCTGGCC	0.537																																							uc002vgb.2		NA																	0				ovary(1)	1						c.(514-516)CAG>CAC		membrane-associated ring finger (C3HC4) 4							82.0	83.0	82.0					2																	217234468		2203	4300	6503	SO:0001630	splice_region_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234468C>G	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.516+1G>C	2.37:g.217234468C>G							p.Q172H	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	2283	-		Renal(323;0.0854)	172			RING-CH-type.		Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.516G>C	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144237	0.37825	.	.	ENSG00000144583	ENST00000273067	T	0.29917	1.55	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.143577	0.48767	D	0.000174	T	0.31857	0.0810	L	0.52126	1.63	0.49687	D	0.99981	B	0.17038	0.02	B	0.17433	0.018	T	0.04961	-1.0915	9	.	.	.	0.0268	18.7696	0.91885	0.0:1.0:0.0:0.0	.	172	Q9P2E8	MARH4_HUMAN	H	172	ENSP00000273067:Q172H	.	Q	-	3	2	MARCH4	216942713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.500000	0.53318	2.757000	0.94681	0.591000	0.81541	CAG		0.537	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	Missense_Mutation	31	40	0	0	0	0.004289	0	31	40				
PRKAG3	53632	broad.mit.edu	37	2	219692580	219692580	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:219692580G>T	ENST00000529249.1	-	7	1111	c.796C>A	c.(796-798)Caa>Aaa	p.Q266K	PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000439262.2_Missense_Mutation_p.Q241K|PRKAG3_ENST00000545803.1_Missense_Mutation_p.Q82K			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	266					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	ATCTTATGTTGTTCAATCTCA	0.572																																							uc002vjb.1		NA																	0				ovary(1)|lung(1)	2						c.(796-798)CAA>AAA		AMP-activated protein kinase, non-catalytic							100.0	106.0	104.0					2																	219692580		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219692580G>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.796C>A	2.37:g.219692580G>T	ENSP00000436068:p.Gln266Lys					PRKAG3_uc010zkn.1_Intron|PRKAG3_uc010fvy.1_Missense_Mutation_p.N307K	p.Q266K	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	815	-		Renal(207;0.0474)	266					Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.796C>A	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032652	0.35893	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91351	-2.83;-2.83;-2.83	4.41	-0.942	0.10398	.	0.104471	0.64402	D	0.000005	T	0.78104	0.4231	N	0.02685	-0.53	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.60616	-0.7228	10	0.39692	T	0.17	-1.988	17.8818	0.88842	0.0:0.3827:0.6173:0.0	.	266	Q9UGI9	AAKG3_HUMAN	K	241;82;266	ENSP00000397133:Q241K;ENSP00000444536:Q82K;ENSP00000436068:Q266K	ENSP00000233944:Q266K	Q	-	1	0	PRKAG3	219400824	1.000000	0.71417	0.982000	0.44146	0.910000	0.53928	2.428000	0.44749	-0.423000	0.07394	-0.938000	0.02693	CAA		0.572	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			14	34	1	0	3.27435e-08	0.00245	3.81942e-08	14	34				
CCDC108	255101	broad.mit.edu	37	2	219890813	219890813	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:219890813C>A	ENST00000341552.5	-	14	2363	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	CCDC108_ENST00000453220.1_Silent_p.R760R|CCDC108_ENST00000441968.1_Silent_p.R760R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	760						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCGTGCCCGCACCGTCA	0.592																																							uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2278-2280)CGG>CGT		coiled-coil domain containing 108 isoform 1							81.0	72.0	75.0					2																	219890813		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219890813C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2280G>T	2.37:g.219890813C>A							p.R760R	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2364	-		Renal(207;0.0915)	760					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.2280G>T	CCDS2430.2																																																																																				0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		16	35	1	0	4.14922e-12	0.004007	5.25513e-12	16	35				
GLB1L	79411	broad.mit.edu	37	2	220104998	220104998	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220104998G>T	ENST00000295759.7	-	6	774	c.461C>A	c.(460-462)gCc>gAc	p.A154D	GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000497855.1_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.A154D			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	154					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCACTGCGGCAAGGAAGTC	0.463																																							uc002vkm.2		NA																	0					0						c.(460-462)GCC>GAC		galactosidase, beta 1-like precursor							124.0	114.0	117.0					2																	220104998		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220104998G>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.461C>A	2.37:g.220104998G>T	ENSP00000295759:p.Ala154Asp					GLB1L_uc002vkk.2_5'UTR|GLB1L_uc010zkx.1_Intron|GLB1L_uc002vkn.2_Missense_Mutation_p.A154D	p.A154D	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	700	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	154					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.461C>A	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.960|8.960	0.970431|0.970431	0.18659|0.18659	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000392089|ENST00000440853	D;D|.	0.97665|.	-4.48;-4.48|.	5.65|5.65	2.56|2.56	0.30785|0.30785	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.542979|.	0.20794|.	N|.	0.085565|.	T|T	0.49712|0.49712	0.1573|0.1573	N|N	0.25245|0.25245	0.725|0.725	0.43032|0.43032	D|D	0.994601|0.994601	B|.	0.12630|.	0.006|.	B|.	0.15484|.	0.013|.	T|T	0.39563|0.39563	-0.9608|-0.9608	10|5	0.28530|.	T|.	0.3|.	1.5299|1.5299	14.3772|14.3772	0.66886|0.66886	0.0:0.0:0.4954:0.5046|0.0:0.0:0.4954:0.5046	.|.	154|.	Q6UWU2|.	GLB1L_HUMAN|.	D|T	154|87	ENSP00000295759:A154D;ENSP00000375939:A154D|.	ENSP00000295759:A154D|.	A|P	-|-	2|1	0|0	GLB1L|GLB1L	219813242|219813242	0.479000|0.479000	0.25925|0.25925	0.818000|0.818000	0.32626|0.32626	0.466000|0.466000	0.32739|0.32739	1.240000|1.240000	0.32731|0.32731	0.660000|0.660000	0.30964|0.30964	0.557000|0.557000	0.71058|0.71058	GCC|CCG		0.463	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		25	35	1	0	4.4004e-07	0.00333	4.97101e-07	25	35				
PTPRN	5798	broad.mit.edu	37	2	220164462	220164462	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220164462C>T	ENST00000295718.2	-	10	1723	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.E405K|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Intron	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	495					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGCACATGCTCAGCCAGGATC	0.577																																							uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1483-1485)GAG>AAG		protein tyrosine phosphatase, receptor type, N							74.0	69.0	71.0					2																	220164462		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164462C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1483G>A	2.37:g.220164462C>T	ENSP00000295718:p.Glu495Lys					PTPRN_uc010zlc.1_Missense_Mutation_p.E405K|PTPRN_uc002vla.2_Intron	p.E495K	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	10	1572	-		Renal(207;0.0474)	495			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1483G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111028	0.77210	.	.	ENSG00000054356	ENST00000295718;ENST00000537666	T;T	0.03717	3.83;3.83	5.49	4.61	0.57282	.	0.154323	0.41605	N	0.000860	T	0.07143	0.0181	L	0.40543	1.245	0.36022	D	0.838834	P	0.42620	0.785	P	0.52031	0.688	T	0.24225	-1.0166	10	0.66056	D	0.02	.	7.0423	0.25027	0.0:0.7014:0.1441:0.1544	.	495	Q16849	PTPRN_HUMAN	K	495;405	ENSP00000295718:E495K;ENSP00000444244:E405K	ENSP00000295718:E495K	E	-	1	0	PTPRN	219872706	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	2.418000	0.44662	1.310000	0.45006	0.561000	0.74099	GAG		0.577	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			6	68	0	0	0	0.001984	0	6	68				
SPEG	10290	broad.mit.edu	37	2	220354191	220354191	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220354191C>G	ENST00000312358.7	+	36	8583	c.8451C>G	c.(8449-8451)gtC>gtG	p.V2817V	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2817	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCGTCAGTCACTGTCAGCC	0.672																																							uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8449-8451)GTC>GTG		SPEG complex locus							31.0	34.0	33.0					2																	220354191		1896	4099	5995	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354191C>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8451C>G	2.37:g.220354191C>G							p.V2817V	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	36	8451	+		Renal(207;0.0183)	2817			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.8451C>G	CCDS42824.1																																																																																				0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	60	0	0	0	0.009096	0	4	60				
GMPPA	29926	broad.mit.edu	37	2	220369964	220369964	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220369964G>A	ENST00000358215.3	+	8	1004	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GMPPA_ENST00000373917.3_Missense_Mutation_p.G212D|GMPPA_ENST00000341142.3_Missense_Mutation_p.G212D|GMPPA_ENST00000313597.5_Missense_Mutation_p.G212D|GMPPA_ENST00000373908.1_Missense_Mutation_p.G212D|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	212					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GACTCACCAGGCTTGTGGCCA	0.592																																							uc002vlr.2		NA																	0					0						c.(634-636)GGC>GAC		GDP-mannose pyrophosphorylase A							66.0	66.0	66.0					2																	220369964		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220369964G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.635G>A	2.37:g.220369964G>A	ENSP00000350949:p.Gly212Asp					GMPPA_uc002vls.2_Missense_Mutation_p.G212D|GMPPA_uc002vlt.2_Missense_Mutation_p.G212D|GMPPA_uc002vlu.2_Missense_Mutation_p.G212D|GMPPA_uc002vlv.2_Missense_Mutation_p.G212D|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.G212D	p.G212D	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	8	703	+		Renal(207;0.0183)	212					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.635G>A	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	g	17.41	3.383539	0.61845	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000435316;ENST00000341142	T;T;T;T;T;T	0.21734	2.26;2.24;2.26;2.26;1.99;2.26	5.18	4.24	0.50183	.	0.526376	0.20733	N	0.086663	T	0.09949	0.0244	N	0.08118	0	0.26754	N	0.97015	B;B	0.29805	0.257;0.021	B;B	0.35813	0.211;0.063	T	0.32798	-0.9893	10	0.11794	T	0.64	-30.4743	6.3683	0.21468	0.1224:0.0:0.7015:0.1761	.	212;212	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	D	212;212;212;212;177;212	ENSP00000315925:G212D;ENSP00000363027:G212D;ENSP00000350949:G212D;ENSP00000363016:G212D;ENSP00000411060:G177D;ENSP00000340760:G212D	ENSP00000315925:G212D	G	+	2	0	GMPPA	220078208	1.000000	0.71417	0.083000	0.20561	0.995000	0.86356	3.437000	0.52863	2.395000	0.81488	0.651000	0.88453	GGC		0.592	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		15	32	0	0	0	0.00499	0	15	32				
OBSL1	23363	broad.mit.edu	37	2	220435139	220435139	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220435139C>A	ENST00000404537.1	-	1	872	c.816G>T	c.(814-816)aaG>aaT	p.K272N	INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373873.4_Missense_Mutation_p.K272N|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.K272N|OBSL1_ENST00000603926.1_Missense_Mutation_p.K272N|OBSL1_ENST00000265318.4_Missense_Mutation_p.K272N|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	272	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGGCTCGGGCTTGCCCATCA	0.701																																							uc010fwk.2		NA																	0					0						c.(814-816)AAG>AAT		obscurin-like 1							33.0	40.0	37.0					2																	220435139		2044	4156	6200	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220435139C>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.816G>T	2.37:g.220435139C>A	ENSP00000385636:p.Lys272Asn					OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.K272N|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	p.K272N	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	1	873	-		Renal(207;0.0376)	272			Ig-like 3.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.816G>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813869	0.70912	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.25	1.38	0.22167	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69468	0.3114	N	0.20881	0.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63431	-0.6639	9	0.35671	T	0.21	.	8.1554	0.31165	0.0:0.5879:0.0:0.4121	.	272;272	O75147;O75147-2	OBSL1_HUMAN;.	N	272	ENSP00000265318:K272N;ENSP00000385636:K272N;ENSP00000362983:K272N;ENSP00000362980:K272N	ENSP00000265318:K272N	K	-	3	2	OBSL1	220143383	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.585000	0.23879	0.159000	0.19401	0.407000	0.27541	AAG		0.701	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			16	36	1	0	1.37285e-15	0.004007	1.86585e-15	16	36				
STK11IP	114790	broad.mit.edu	37	2	220476523	220476523	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220476523A>T	ENST00000456909.1	+	18	2392	c.2302A>T	c.(2302-2304)Acc>Tcc	p.T768S	STK11IP_ENST00000295641.10_Missense_Mutation_p.T779S			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	779					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCACCGAGCACCCGTGACCA	0.597																																							uc002vml.2		NA																	0				ovary(1)	1						c.(2335-2337)ACC>TCC		LKB1 interacting protein							36.0	41.0	39.0					2																	220476523		2107	4229	6336	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220476523A>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2302A>T	2.37:g.220476523A>T	ENSP00000389383:p.Thr768Ser						p.T779S	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	18	2378	+		Renal(207;0.0183)	779					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2335A>T		.	.	.	.	.	.	.	.	.	.	A	0.125	-1.120546	0.01785	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.03982	3.75;3.74	4.68	-2.34	0.06704	.	1.136850	0.06493	N	0.734984	T	0.00906	0.0030	N	0.00289	-1.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46048	-0.9219	10	0.02654	T	1	-7.1641	0.7112	0.00925	0.1716:0.2095:0.3223:0.2966	.	779	Q8N1F8	S11IP_HUMAN	S	768;779	ENSP00000389383:T768S;ENSP00000295641:T779S	ENSP00000295641:T779S	T	+	1	0	STK11IP	220184767	0.002000	0.14202	0.026000	0.17262	0.006000	0.05464	0.191000	0.17076	-0.277000	0.09193	-1.310000	0.01310	ACC		0.597	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		9	18	0	0	0	0.004482	0	9	18				
STK11IP	114790	broad.mit.edu	37	2	220479832	220479832	+	Silent	SNP	C	C	T	rs200527328		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:220479832C>T	ENST00000456909.1	+	24	2976	c.2886C>T	c.(2884-2886)ctC>ctT	p.L962L	STK11IP_ENST00000295641.10_Silent_p.L973L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	973					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCTGCCTCGTATCCCTGT	0.632																																							uc002vml.2		NA																	0				ovary(1)	1						c.(2917-2919)CTC>CTT		LKB1 interacting protein		C		3,4399	6.2+/-15.9	0,3,2198	34.0	35.0	35.0		2919	-3.5	0.9	2		35	16,8582	10.5+/-38.8	0,16,4283	no	coding-synonymous	STK11IP	NM_052902.2		0,19,6481	TT,TC,CC		0.1861,0.0682,0.1462		973/1100	220479832	19,12981	2201	4299	6500	SO:0001819	synonymous_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220479832C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2886C>T	2.37:g.220479832C>T							p.L973L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	2962	+		Renal(207;0.0183)	973					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37	c.2919C>T		.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154605	0.06544	6.82E-4	0.001861	ENSG00000144589	ENST00000447191	.	.	.	4.87	-3.47	0.04753	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	T	0.46062	-0.9218	4	.	.	.	-8.6031	5.6564	0.17644	0.1552:0.4631:0.0:0.3817	.	.	.	.	L	62	.	.	S	+	2	0	STK11IP	220188076	0.160000	0.22878	0.916000	0.36221	0.362000	0.29581	-1.170000	0.03118	-0.180000	0.10637	-0.340000	0.08031	TCG		0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		5	14	0	0	0	0.000602	0	5	14				
COL4A4	1286	broad.mit.edu	37	2	227915763	227915763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:227915763C>T	ENST00000396625.3	-	33	3287	c.3080G>A	c.(3079-3081)gGa>gAa	p.G1027E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1027E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1027	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCTGGGGGTCCAGGAGGCCC	0.587																																							uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3079-3081)GGA>GAA		alpha 4 type IV collagen precursor							93.0	95.0	94.0					2																	227915763		1879	4120	5999	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227915763C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3080G>A	2.37:g.227915763C>T	ENSP00000379866:p.Gly1027Glu						p.G1027E	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	33	3734	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1027			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3080G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738629	0.49045	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.52	5.52	0.82312	.	.	.	.	.	D	0.99697	0.9885	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97360	0.9969	9	0.72032	D	0.01	.	17.2235	0.86963	0.0:1.0:0.0:0.0	.	1027	P53420	CO4A4_HUMAN	E	1027	ENSP00000379866:G1027E;ENSP00000328553:G1027E	ENSP00000328553:G1027E	G	-	2	0	COL4A4	227624007	0.999000	0.42202	0.841000	0.33234	0.313000	0.28021	5.941000	0.70195	2.597000	0.87782	0.655000	0.94253	GGA		0.587	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		32	78	0	0	0	0.009535	0	32	78				
SPHKAP	80309	broad.mit.edu	37	2	228882198	228882198	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:228882198G>A	ENST00000392056.3	-	7	3418	c.3372C>T	c.(3370-3372)agC>agT	p.S1124S	SPHKAP_ENST00000344657.5_Silent_p.S1124S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1124						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCGGTGATGCTCTCACAGC	0.547																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(3370-3372)AGC>AGT		sphingosine kinase type 1-interacting protein							44.0	37.0	39.0					2																	228882198		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882198G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3372C>T	2.37:g.228882198G>A						SPHKAP_uc002vpp.2_Silent_p.S1124S|SPHKAP_uc010zlx.1_Silent_p.S1124S	p.S1124S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3419	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1124					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3372C>T	CCDS46537.1																																																																																				0.547	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		17	24	0	0	0	0.004007	0	17	24				
SPHKAP	80309	broad.mit.edu	37	2	228884135	228884135	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:228884135T>G	ENST00000392056.3	-	7	1481	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T479P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	479						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGCTTGAGGTTTCAACAGAG	0.532																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(1435-1437)ACC>CCC		sphingosine kinase type 1-interacting protein							64.0	64.0	64.0					2																	228884135		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884135T>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1435A>C	2.37:g.228884135T>G	ENSP00000375909:p.Thr479Pro					SPHKAP_uc002vpp.2_Missense_Mutation_p.T479P|SPHKAP_uc010zlx.1_Missense_Mutation_p.T479P	p.T479P	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1482	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	479					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1435A>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	9.316	1.056798	0.19907	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.50548	0.74;0.74	6.03	2.33	0.28932	.	0.669254	0.15816	N	0.243232	T	0.48352	0.1495	M	0.72479	2.2	0.09310	N	1	P;P	0.46395	0.877;0.787	B;B	0.44108	0.216;0.441	T	0.40496	-0.9560	10	0.66056	D	0.02	.	8.5517	0.33455	0.0:0.3889:0.0:0.6111	.	479;479	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	P	479	ENSP00000375909:T479P;ENSP00000339886:T479P	ENSP00000339886:T479P	T	-	1	0	SPHKAP	228592379	0.016000	0.18221	0.004000	0.12327	0.014000	0.08584	0.511000	0.22739	0.164000	0.19529	-0.250000	0.11733	ACC		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		18	28	0	0	0	0.001882	0	18	28				
TRIP12	9320	broad.mit.edu	37	2	230744732	230744732	+	Missense_Mutation	SNP	C	C	A	rs200837058		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:230744732C>A	ENST00000283943.5	-	2	242	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	TRIP12_ENST00000409677.1_Missense_Mutation_p.G22W|TRIP12_ENST00000389045.3_Missense_Mutation_p.G22W|TRIP12_ENST00000389044.4_Missense_Mutation_p.G22W|TRIP12_ENST00000543084.1_Missense_Mutation_p.G22W	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	22					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGTTGGGCCCCGGCAGTGTTC	0.448																																							uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(64-66)GGG>TGG		thyroid hormone receptor interactor 12							129.0	123.0	125.0					2																	230744732		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230744732C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.64G>T	2.37:g.230744732C>A	ENSP00000283943:p.Gly22Trp					TRIP12_uc002vpx.1_Missense_Mutation_p.G22W|TRIP12_uc002vpy.1_Missense_Mutation_p.G22W|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.G22W	p.G22W	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	2	173	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	22					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.64G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056916	0.76074	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T;T	0.54675	0.58;0.91;0.56	5.9	5.9	0.94986	.	0.053061	0.85682	D	0.000000	T	0.59169	0.2174	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.995;0.998;0.998	D;P;P;P	0.67725	0.953;0.848;0.902;0.902	T	0.65018	-0.6270	10	0.87932	D	0	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	22;22;22;22	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	W	22	ENSP00000283943:G22W;ENSP00000373697:G22W;ENSP00000373696:G22W	ENSP00000283943:G22W	G	-	1	0	TRIP12	230452976	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.786000	0.85741	2.806000	0.96561	0.655000	0.94253	GGG		0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		9	89	1	0	6.40141e-05	0.000978	6.88944e-05	9	89				
DIS3L2	129563	broad.mit.edu	37	2	233201200	233201200	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:233201200G>C	ENST00000409307.1	+	20	2518	c.2518G>C	c.(2518-2520)Gtg>Ctg	p.V840L	DIS3L2_ENST00000325385.7_Missense_Mutation_p.V840L|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTTCAGCCTGGTGGAGGTGGT	0.652																																							uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(2518-2520)GTG>CTG		DIS3 mitotic control homolog (S.							26.0	31.0	29.0					2																	233201200		2130	4249	6379	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233201200G>C	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2518G>C	2.37:g.233201200G>C	ENSP00000386799:p.Val840Leu					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_RNA	p.V840L	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	21	2794	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	840						Missense_Mutation	SNP	ENST00000409307.1	37	c.2518G>C	CCDS42834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.58|14.58	2.578320|2.578320	0.45902|0.45902	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000418143|ENST00000325385;ENST00000409307	.|T;T	.|0.28666	.|1.6;1.6	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.250304	.|0.32357	.|N	.|0.006203	T|T	0.30696|0.30696	0.0773|0.0773	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	.|P	.|0.41673	.|0.759	.|B	.|0.38562	.|0.276	T|T	0.08973|0.08973	-1.0696|-1.0696	5|10	.|0.54805	.|T	.|0.06	-23.3066|-23.3066	16.5071|16.5071	0.84274|0.84274	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|840	.|Q8IYB7	.|DI3L2_HUMAN	A|L	120|840	.|ENSP00000315569:V840L;ENSP00000386799:V840L	.|ENSP00000315569:V840L	G|V	+|+	2|1	0|0	DIS3L2|DIS3L2	232909444|232909444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.361000|0.361000	0.29550|0.29550	8.279000|8.279000	0.89901|0.89901	2.477000|2.477000	0.83638|0.83638	0.650000|0.650000	0.86243|0.86243	GGT|GTG		0.652	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		16	14	0	0	0	0.003163	0	16	14				
ALPP	250	broad.mit.edu	37	2	233245182	233245182	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:233245182C>G	ENST00000392027.2	+	7	1114	c.845C>G	c.(844-846)cCg>cGg	p.P282R	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	282					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCCCTGGACCCGTCTGTGACC	0.637																																							uc002vsq.2		NA																	0				ovary(1)	1						c.(844-846)CCG>CGG		placental alkaline phosphatase preproprotein							110.0	112.0	111.0					2																	233245182		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245182C>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.845C>G	2.37:g.233245182C>G	ENSP00000375881:p.Pro282Arg					ALPP_uc002vsr.2_5'Flank	p.P282R	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	7	1010	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	282					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.845C>G	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	7.011	0.556777	0.13436	.	.	ENSG00000163283	ENST00000392027	D	0.95756	-3.8	3.2	1.25	0.21368	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.224780	0.05286	N	0.520155	D	0.86665	0.5987	N	0.04018	-0.295	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.77869	-0.2427	10	0.19147	T	0.46	.	4.7723	0.13162	0.2386:0.5512:0.0:0.2103	.	282	P05187	PPB1_HUMAN	R	282	ENSP00000375881:P282R	ENSP00000375881:P282R	P	+	2	0	ALPP	232953426	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.826000	0.39092	0.435000	0.26365	-0.680000	0.03767	CCG		0.637	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		6	116	0	0	0	0.00308	0	6	116				
TRPM8	79054	broad.mit.edu	37	2	234851361	234851361	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:234851361G>T	ENST00000324695.4	+	6	708	c.668G>T	c.(667-669)cGg>cTg	p.R223L	TRPM8_ENST00000355722.4_Missense_Mutation_p.R173L|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.R146L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	223					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCTCCAACCGGGACACCCTC	0.552																																							uc002vvh.2		NA																	0				skin(4)	4						c.(667-669)CGG>CTG		transient receptor potential cation channel,	Menthol(DB00825)						167.0	157.0	160.0					2																	234851361		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234851361G>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.668G>T	2.37:g.234851361G>T	ENSP00000323926:p.Arg223Leu					TRPM8_uc010fyj.2_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.R173L|TRPM8_uc002vvj.3_Missense_Mutation_p.R146L	p.R223L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	6	708	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	223			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.668G>T	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468501	0.84533	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.10960	2.82;2.82;2.82	4.88	4.88	0.63580	.	0.090091	0.47455	D	0.000235	T	0.39332	0.1074	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.957;0.995	T	0.46803	-0.9165	10	0.87932	D	0	-22.4555	16.5825	0.84718	0.0:0.0:1.0:0.0	.	173;223	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	L	223;173;146	ENSP00000323926:R223L;ENSP00000347956:R173L;ENSP00000386771:R146L	ENSP00000323926:R223L	R	+	2	0	TRPM8	234516100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.581000	0.82535	2.253000	0.74438	0.591000	0.81541	CGG		0.552	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		39	79	1	0	9.73076e-26	0.006999	1.55403e-25	39	79				
ACKR3	57007	broad.mit.edu	37	2	237489245	237489245	+	Missense_Mutation	SNP	C	C	A	rs200114828		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:237489245C>A	ENST00000272928.3	+	2	447	c.137C>A	c.(136-138)aCg>aAg	p.T46K		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	46					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CTGCTCTACACGCTCTCCTTC	0.527																																							uc010fyq.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(136-138)ACG>AAG		chemokine orphan receptor 1							247.0	151.0	184.0					2																	237489245		2203	4300	6503	SO:0001583	missense	57007				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:237489245C>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.137C>A	2.37:g.237489245C>A	ENSP00000272928:p.Thr46Lys					CXCR7_uc002vwd.2_Missense_Mutation_p.T46K	p.T46K	NM_020311	NP_064707	P25106	CXCR7_HUMAN		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)	3	367	+		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)	46			Helical; Name=1; (Potential).		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.137C>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290545	0.40494	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.37915	1.17;1.17	5.57	1.66	0.24008	.	0.189121	0.46758	D	0.000269	T	0.24198	0.0586	L	0.29908	0.895	0.33360	D	0.572167	B	0.28082	0.2	B	0.30716	0.119	T	0.21042	-1.0257	10	0.54805	T	0.06	.	6.762	0.23546	0.0:0.6652:0.1248:0.21	.	46	P25106	CXCR7_HUMAN	K	46	ENSP00000405945:T46K;ENSP00000272928:T46K	ENSP00000272928:T46K	T	+	2	0	CXCR7	237153984	1.000000	0.71417	0.533000	0.28001	0.250000	0.25880	1.219000	0.32479	0.289000	0.22422	-0.222000	0.12452	ACG		0.527	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		17	10	1	0	3.45872e-05	0.004007	3.74953e-05	17	10				
ACKR3	57007	broad.mit.edu	37	2	237489334	237489334	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:237489334G>A	ENST00000272928.3	+	2	536	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	76					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CAAGACCACAGGCTATGACAC	0.537																																							uc010fyq.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(226-228)GGC>AGC		chemokine orphan receptor 1							180.0	141.0	154.0					2																	237489334		2203	4300	6503	SO:0001583	missense	57007				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:237489334G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.226G>A	2.37:g.237489334G>A	ENSP00000272928:p.Gly76Ser					CXCR7_uc002vwd.2_Missense_Mutation_p.G76S	p.G76S	NM_020311	NP_064707	P25106	CXCR7_HUMAN		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)	3	456	+		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)	76			Cytoplasmic (Potential).		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.226G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675105	0.67928	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.36340	1.26;1.26	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.177421	0.49305	D	0.000153	T	0.51295	0.1666	L	0.35793	1.09	0.58432	D	0.999991	D	0.64830	0.994	D	0.64595	0.927	T	0.49093	-0.8975	10	0.56958	D	0.05	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	76	P25106	CXCR7_HUMAN	S	76	ENSP00000405945:G76S;ENSP00000272928:G76S	ENSP00000272928:G76S	G	+	1	0	CXCR7	237154073	1.000000	0.71417	0.961000	0.40146	0.890000	0.51754	5.366000	0.66122	2.620000	0.88729	0.563000	0.77884	GGC		0.537	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		15	25	0	0	0	0.003163	0	15	25				
COL6A3	1293	broad.mit.edu	37	2	238262032	238262032	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:238262032A>T	ENST00000295550.4	-	25	7094	c.6642T>A	c.(6640-6642)ggT>ggA	p.G2214G	COL6A3_ENST00000353578.4_Silent_p.G2008G|COL6A3_ENST00000347401.3_Silent_p.G2013G|COL6A3_ENST00000409809.1_Silent_p.G2008G|COL6A3_ENST00000346358.4_Silent_p.G2014G|COL6A3_ENST00000472056.1_Silent_p.G1607G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2214	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGGCCAGGACCGCCCTTGT	0.532																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6640-6642)GGT>GGA		alpha 3 type VI collagen isoform 1 precursor							63.0	58.0	59.0					2																	238262032		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238262032A>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6642T>A	2.37:g.238262032A>T						COL6A3_uc002vwo.2_Silent_p.G2008G|COL6A3_uc010znj.1_Silent_p.G1607G|COL6A3_uc002vwp.1_Silent_p.G35G	p.G2214G	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	25	6927	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2214			Triple-helical region.|Collagen-like 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.6642T>A	CCDS33412.1																																																																																				0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		14	20	0	0	0	0.004007	0	14	20				
COL6A3	1293	broad.mit.edu	37	2	238283063	238283063	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:238283063G>T	ENST00000295550.4	-	8	4123	c.3671C>A	c.(3670-3672)cCg>cAg	p.P1224Q	COL6A3_ENST00000353578.4_Missense_Mutation_p.P1018Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.P817Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1023Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1018Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1024Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.P617Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.P1018Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1224	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGGGCTCGGTAGAGGCTG	0.582																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3670-3672)CCG>CAG		alpha 3 type VI collagen isoform 1 precursor							57.0	58.0	57.0					2																	238283063		2191	4285	6476	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283063G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3671C>A	2.37:g.238283063G>T	ENSP00000295550:p.Pro1224Gln					COL6A3_uc002vwo.2_Missense_Mutation_p.P1018Q|COL6A3_uc010znj.1_Missense_Mutation_p.P617Q|COL6A3_uc002vwq.2_Missense_Mutation_p.P1018Q|COL6A3_uc002vwr.2_Missense_Mutation_p.P817Q	p.P1224Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3956	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1224			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3671C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793706	0.50102	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;T;T	0.88741	-2.42;-2.41;-2.4;-2.38;-2.4;-2.35;0.11;-0.04	4.82	2.89	0.33648	.	0.980679	0.08312	N	0.965220	D	0.91369	0.7277	L	0.57536	1.79	0.09310	N	1	D;P;P;D;B	0.76494	0.999;0.631;0.763;0.998;0.007	D;P;P;D;B	0.72982	0.979;0.47;0.738;0.974;0.006	T	0.79734	-0.1679	10	0.13853	T	0.58	.	7.8158	0.29258	0.0826:0.0:0.7582:0.1591	.	617;817;1018;1018;1224	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	Q	1224;1023;1018;617;1018;1024;1018;817	ENSP00000295550:P1224Q;ENSP00000315609:P1023Q;ENSP00000315873:P1018Q;ENSP00000418285:P617Q;ENSP00000386844:P1018Q;ENSP00000295546:P1024Q;ENSP00000375861:P1018Q;ENSP00000375860:P817Q	ENSP00000295550:P1224Q	P	-	2	0	COL6A3	237947802	0.018000	0.18449	0.001000	0.08648	0.002000	0.02628	1.953000	0.40352	1.183000	0.42943	0.655000	0.94253	CCG		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		42	63	1	0	1.31131e-34	0.003214	2.25628e-34	42	63				
COL6A3	1293	broad.mit.edu	37	2	238303671	238303671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:238303671C>A	ENST00000295550.4	-	3	720	c.268G>T	c.(268-270)Gag>Tag	p.E90*	COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E90*|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E90*|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	90	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACAGGAACTCGGTATGTGGG	0.383																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(268-270)GAG>TAG		alpha 3 type VI collagen isoform 1 precursor							76.0	78.0	78.0					2																	238303671		2203	4300	6503	SO:0001587	stop_gained	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303671C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.268G>T	2.37:g.238303671C>A	ENSP00000295550:p.Glu90*					COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Nonsense_Mutation_p.E90*	p.E90*	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	553	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	90			VWFA 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	c.268G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	41	8.637696	0.98895	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	.	.	.	4.67	4.67	0.58626	.	0.000000	0.45606	U	0.000355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.5895	0.87992	0.0:1.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000295550:E90X	E	-	1	0	COL6A3	237968410	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.754000	0.55189	2.119000	0.64992	0.455000	0.32223	GAG		0.383	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		31	27	1	0	3.1745e-13	0.008361	4.09571e-13	31	27				
CAPN10	11132	broad.mit.edu	37	2	241537463	241537463	+	Silent	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:241537463A>C	ENST00000391984.2	+	10	2098	c.1902A>C	c.(1900-1902)acA>acC	p.T634T	CAPN10_ENST00000404753.3_Silent_p.T634T|CAPN10_ENST00000354082.4_Silent_p.T479T|CAPN10_ENST00000352879.4_Silent_p.T100T|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	634	Domain III 2.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGCCGGACACAGAGGGGGCCT	0.657																																							uc002vzk.1		NA																	0				ovary(3)|large_intestine(2)|lung(1)	6						c.(1900-1902)ACA>ACC		calpain 10 isoform a							51.0	52.0	52.0					2																	241537463		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241537463A>C	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1902A>C	2.37:g.241537463A>C						CAPN10_uc002vzl.1_Silent_p.T479T|CAPN10_uc002vzm.1_Silent_p.T100T|CAPN10_uc002vzn.1_Silent_p.T506T|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.T634T	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	10	2086	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	634			Domain III 2.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1902A>C	CCDS42838.1																																																																																				0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		5	59	0	0	0	0.000602	0	5	59				
KIF1A	547	broad.mit.edu	37	2	241724429	241724429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:241724429C>A	ENST00000320389.7	-	7	855	c.697G>T	c.(697-699)Gag>Tag	p.E233*	KIF1A_ENST00000498729.2_Nonsense_Mutation_p.E233*	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATATTGGTCTCTGCGTCATGG	0.607																																							uc002vzy.2		NA																	0				lung(1)	1						c.(697-699)GAG>TAG		axonal transport of synaptic vesicles							244.0	254.0	251.0					2																	241724429		2200	4300	6500	SO:0001587	stop_gained	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241724429C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.697G>T	2.37:g.241724429C>A	ENSP00000322791:p.Glu233*					KIF1A_uc010fzk.2_Nonsense_Mutation_p.E233*|KIF1A_uc002vzz.1_Nonsense_Mutation_p.E233*	p.E233*	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	7	843	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	233			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Nonsense_Mutation	SNP	ENST00000320389.7	37	c.697G>T	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.234403|5.234403	0.95207|0.95207	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000428768	.|.	.|.	.|.	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.183650|.	0.46442|.	U|.	0.000283|.	.|T	.|0.71117	.|0.3302	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75938	.|-0.3141	.|3	0.33940|.	T|.	0.23|.	.|.	16.5652|16.5652	0.84577|0.84577	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	233|40	.|.	ENSP00000322791:E233X|.	E|R	-|-	1|2	0|0	KIF1A|KIF1A	241373102|241373102	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.669000|0.669000	0.39330|0.39330	7.491000|7.491000	0.81471|0.81471	1.965000|1.965000	0.57142|0.57142	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		56	102	1	0	2.6711e-34	0.00361	4.58377e-34	56	102				
NSFL1C	55968	broad.mit.edu	37	20	1426310	1426310	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:1426310C>A	ENST00000216879.4	-	8	1818		c.e8+1		NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ATGCAAGGTACCTGTGGCTGT	0.512																																							uc002wfc.2		NA																	0					0						c.e8+1		p47 protein isoform a							158.0	146.0	150.0					20																	1426310		2203	4300	6503	SO:0001630	splice_region_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426310C>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.950+1G>T	20.37:g.1426310C>A						NSFL1C_uc002wfd.2_Splice_Site_p.R206_splice|NSFL1C_uc002wfe.2_Splice_Site_p.R286_splice|NSFL1C_uc002wff.2_Splice_Site|NSFL1C_uc010gag.2_Splice_Site_p.R83_splice	p.R317_splice	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			8	1898	-								A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Splice_Site	SNP	ENST00000216879.4	37	c.950_splice	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356649	0.82243	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8113	0.88617	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSFL1C	1374310	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.546000	0.82137	2.518000	0.84900	0.561000	0.74099	.		0.512	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143	Intron	17	137	1	0	1.45105e-14	0.006122	1.9182e-14	17	137				
SIRPA	140885	broad.mit.edu	37	20	1915365	1915365	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:1915365C>A	ENST00000358771.4	+	7	1383	c.1231C>A	c.(1231-1233)Cat>Aat	p.H411N	SIRPA_ENST00000356025.3_Missense_Mutation_p.H411N|SIRPA_ENST00000400068.3_Missense_Mutation_p.H411N	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	411					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TTTTAGGTTGCATGAGCCCGA	0.438																																					GBM(155;1668 1920 5945 42733 48121)	GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2		NA																	0				ovary(1)	1						c.(1231-1233)CAT>AAT		signal-regulatory protein alpha precursor							159.0	137.0	145.0					20																	1915365		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1915365C>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1231C>A	20.37:g.1915365C>A	ENSP00000351621:p.His411Asn					SIRPA_uc010zps.1_Missense_Mutation_p.H391N|SIRPA_uc002wfr.2_Missense_Mutation_p.H411N|SIRPA_uc002wfs.2_Missense_Mutation_p.H411N|SIRPA_uc002wft.2_Missense_Mutation_p.H411N	p.H411N	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	8	1591	+			411			Cytoplasmic (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1231C>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017397	0.75161	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.26518	1.73;1.73;1.73	4.43	4.43	0.53597	.	0.164902	0.29321	N	0.012483	T	0.36853	0.0982	L	0.32530	0.975	0.33176	D	0.548939	D;D;D	0.69078	0.965;0.996;0.997	P;D;D	0.79784	0.629;0.993;0.989	T	0.37244	-0.9714	10	0.33141	T	0.24	.	12.7286	0.57185	0.0:1.0:0.0:0.0	.	391;411;411	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	N	411	ENSP00000382941:H411N;ENSP00000348307:H411N;ENSP00000351621:H411N	ENSP00000348307:H411N	H	+	1	0	SIRPA	1863365	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.201000	0.58439	2.456000	0.83038	0.561000	0.74099	CAT		0.438	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		53	22	1	0	1.13709e-37	0.00361	1.97763e-37	53	22				
TGM6	343641	broad.mit.edu	37	20	2411243	2411243	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:2411243C>A	ENST00000202625.2	+	11	1891	c.1830C>A	c.(1828-1830)atC>atA	p.I610I	TGM6_ENST00000381423.1_Silent_p.I610I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	610					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCATCACCATCAAGGTGACCT	0.547																																							uc002wfy.1		NA																	0				ovary(3)|skin(1)	4						c.(1828-1830)ATC>ATA		transglutaminase 6	L-Glutamine(DB00130)						78.0	63.0	68.0					20																	2411243		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411243C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1830C>A	20.37:g.2411243C>A						TGM6_uc010gal.1_Silent_p.I610I	p.I610I	NM_198994	NP_945345	O95932	TGM3L_HUMAN			11	1891	+			610					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.1830C>A	CCDS13025.1																																																																																				0.547	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	47	1	0	0.00024832	0.009096	0.000262719	4	47				
ZNF343	79175	broad.mit.edu	37	20	2473448	2473448	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:2473448C>A	ENST00000278772.4	-	5	688	c.201G>T	c.(199-201)gtG>gtT	p.V67V	ZNF343_ENST00000381253.1_Silent_p.V67V|ZNF343_ENST00000358413.2_Silent_p.V67V|RP4-734P14.4_ENST00000461548.1_Silent_p.V67V	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AGATCACAGTCACATCCCTGA	0.438																																							uc002wge.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(199-201)GTG>GTT		zinc finger protein 343							192.0	178.0	183.0					20																	2473448		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2473448C>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.201G>T	20.37:g.2473448C>A						ZNF343_uc010gao.1_Silent_p.V67V|ZNF343_uc002wgd.1_5'UTR	p.V67V	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			5	689	-			67			KRAB.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.201G>T	CCDS13028.1																																																																																				0.438	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		91	42	1	0	1.11079e-38	0.00361	1.94767e-38	91	42				
VPS16	64601	broad.mit.edu	37	20	2841496	2841496	+	Missense_Mutation	SNP	C	C	T	rs201833647	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:2841496C>T	ENST00000380445.3	+	6	689	c.617C>T	c.(616-618)gCc>gTc	p.A206V	VPS16_ENST00000380469.3_Missense_Mutation_p.A206V|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	206					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GACCATGCAGCCTGCTCCGCA	0.577													C|||	5	0.000998403	0.0	0.0014	5008	,	,		20355	0.0		0.004	False		,,,				2504	0.0						uc002whe.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(616-618)GCC>GTC		vacuolar protein sorting 16 isoform 1		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	65.0	58.0	60.0		617,617	5.0	1.0	20		60	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	VPS16	NM_022575.2,NM_080413.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	206/840,206/696	2841496	1,13005	2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2841496C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.617C>T	20.37:g.2841496C>T	ENSP00000369810:p.Ala206Val					VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.A206V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	p.A206V	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			6	665	+			206					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.617C>T	CCDS13036.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	C	11.40	1.628822	0.28978	0.0	1.16E-4	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.45276	0.9;0.91	5.95	5.0	0.66597	Vps16, N-terminal (1);	0.432061	0.28683	N	0.014494	T	0.26774	0.0655	L	0.42245	1.32	0.80722	D	1	B;B	0.22146	0.002;0.065	B;B	0.18871	0.002;0.023	T	0.04621	-1.0938	10	0.33141	T	0.24	-2.4309	12.1706	0.54157	0.0:0.9185:0.0:0.0815	.	206;206	Q9H269-2;Q9H269	.;VPS16_HUMAN	V	206;206;88;88	ENSP00000369810:A206V;ENSP00000369836:A206V	ENSP00000369810:A206V	A	+	2	0	VPS16	2789496	1.000000	0.71417	0.958000	0.39756	0.317000	0.28152	5.538000	0.67193	2.826000	0.97356	0.563000	0.77884	GCC		0.577	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		41	23	0	0	0	0.00623	0	41	23				
LZTS3	9762	broad.mit.edu	37	20	3147616	3147616	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3147616T>C	ENST00000329152.3	-	1	1591	c.194A>G	c.(193-195)cAg>cGg	p.Q65R	LZTS3_ENST00000360342.3_Missense_Mutation_p.Q65R|LZTS3_ENST00000337576.5_Missense_Mutation_p.Q65R			O60299	LZTS3_HUMAN		65						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GAAACTGCCCTGGCTGCCCCC	0.706																																							uc002wia.1		NA																	0				pancreas(1)	1						c.(193-195)CAG>CGG		ProSAPiP1 protein							20.0	20.0	20.0					20																	3147616		2200	4297	6497	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3147616T>C																												ENST00000329152.3:c.194A>G	20.37:g.3147616T>C	ENSP00000332123:p.Gln65Arg					ProSAPiP1_uc002wib.1_Missense_Mutation_p.Q65R	p.Q65R	NM_014731	NP_055546	O60299	PRIP1_HUMAN			1	1592	-			65					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.194A>G	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785947	0.31593	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.28895	1.6;1.59;1.59	4.9	2.66	0.31614	.	0.292074	0.32244	N	0.006376	T	0.13072	0.0317	N	0.08118	0	0.36666	D	0.878204	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.14476	-1.0471	10	0.13108	T	0.6	-15.0067	9.3062	0.37876	0.0:0.1369:0.0:0.8631	.	65;65	O60299-2;O60299	.;PRIP1_HUMAN	R	65	ENSP00000332123:Q65R;ENSP00000353496:Q65R;ENSP00000338166:Q65R	ENSP00000332123:Q65R	Q	-	2	0	RP5-1187M17.10	3095616	0.147000	0.22687	0.997000	0.53966	0.898000	0.52572	-0.106000	0.10890	1.837000	0.53436	0.459000	0.35465	CAG		0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			9	6	0	0	0	0.006214	0	9	6				
ATRN	8455	broad.mit.edu	37	20	3559354	3559354	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3559354A>T	ENST00000262919.5	+	15	2547	c.2479A>T	c.(2479-2481)Aca>Tca	p.T827S	ATRN_ENST00000446916.2_Missense_Mutation_p.T827S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	827	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGCTTCTCTTACAACCCAGAA	0.383																																							uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(2479-2481)ACA>TCA		attractin isoform 1							94.0	88.0	90.0					20																	3559354		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3559354A>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2479A>T	20.37:g.3559354A>T	ENSP00000262919:p.Thr827Ser					ATRN_uc002wil.2_Missense_Mutation_p.T827S	p.T827S	NM_139321	NP_647537	O75882	ATRN_HUMAN			15	2569	+			827			Extracellular (Potential).|C-type lectin.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2479A>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394540	0.83011	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.18338	2.22;2.22	5.56	4.45	0.53987	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.156238	0.56097	D	0.000026	T	0.40297	0.1111	M	0.85542	2.76	0.58432	D	0.999998	D;D	0.71674	0.998;0.997	D;D	0.72075	0.976;0.921	T	0.48811	-0.9002	10	0.09590	T	0.72	-9.2472	12.4437	0.55639	0.8596:0.1404:0.0:0.0	.	827;827	O75882;O75882-2	ATRN_HUMAN;.	S	827;827;753	ENSP00000262919:T827S;ENSP00000416587:T827S	ENSP00000262919:T827S	T	+	1	0	ATRN	3507354	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.070000	0.93974	0.919000	0.36945	0.533000	0.62120	ACA		0.383	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		9	60	0	0	0	0.004482	0	9	60				
ADAM33	80332	broad.mit.edu	37	20	3653478	3653478	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3653478C>A	ENST00000356518.2	-	12	1442	c.1201G>T	c.(1201-1203)Ggc>Tgc	p.G401C	ADAM33_ENST00000379861.4_Missense_Mutation_p.G401C|ADAM33_ENST00000350009.2_Missense_Mutation_p.G401C|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	401	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CAAGCGCCGCCCCCCTTGCGG	0.731																																							uc002wit.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1201-1203)GGC>TGC		ADAM metallopeptidase domain 33 isoform alpha							6.0	9.0	8.0					20																	3653478		1984	3979	5963	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3653478C>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1201G>T	20.37:g.3653478C>A	ENSP00000348912:p.Gly401Cys					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.G401C|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.G401C|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	p.G401C	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			12	1288	-			401			Extracellular (Potential).|Peptidase M12B.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1201G>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	c	19.68	3.873125	0.72180	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.64438	-0.1;-0.1;-0.1	4.43	1.39	0.22231	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.79581	0.4470	M	0.92459	3.31	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.76102	-0.3082	9	0.54805	T	0.06	.	6.4536	0.21918	0.0:0.6778:0.1502:0.172	.	401;401;401	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	C	401;401;401;281	ENSP00000348912:G401C;ENSP00000369190:G401C;ENSP00000322550:G401C	ENSP00000322550:G401C	G	-	1	0	ADAM33	3601478	0.038000	0.19896	0.440000	0.26846	0.738000	0.42128	1.217000	0.32455	0.137000	0.18759	0.306000	0.20318	GGC		0.731	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		20	6	1	0	6.33239e-15	0.010504	8.48119e-15	20	6				
MAVS	57506	broad.mit.edu	37	20	3842153	3842153	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:3842153T>C	ENST00000428216.2	+	4	593		c.e4+2		MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGGAGAGGTCTGTCCTCAT	0.572																																							uc002wjw.3		NA																	0					0						c.e4+2		virus-induced signaling adapter							52.0	57.0	56.0					20																	3842153		2203	4300	6503	SO:0001630	splice_region_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3842153T>C	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.465+2T>C	20.37:g.3842153T>C						MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_Splice_Site_p.E14_splice|MAVS_uc002wjy.3_Intron	p.E155_splice	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			4	634	+								A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Splice_Site	SNP	ENST00000428216.2	37	c.465_splice	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727180	0.30593	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	.	.	.	4.49	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7766	0.23622	0.0:0.1064:0.0:0.8936	.	.	.	.	.	-1	.	.	.	+	.	.	MAVS	3790153	0.971000	0.33674	0.688000	0.30117	0.032000	0.12392	1.948000	0.40303	0.867000	0.35654	0.482000	0.46254	.		0.572	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	Intron	32	20	0	0	0	0.002096	0	32	20				
SLC23A2	9962	broad.mit.edu	37	20	4864461	4864461	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:4864461C>A	ENST00000379333.1	-	9	1043	c.651G>T	c.(649-651)ggG>ggT	p.G217G	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000338244.1_Silent_p.G217G	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	217					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGATGATGGCCCCCTGGATCT	0.517																																							uc002wlg.1		NA																	0				ovary(2)	2						c.(649-651)GGG>GGT		solute carrier family 23 (nucleobase							74.0	57.0	63.0					20																	4864461		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4864461C>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.651G>T	20.37:g.4864461C>A						SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Silent_p.G217G|SLC23A2_uc002wli.2_Silent_p.G216G	p.G217G	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			9	1026	-			217					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.651G>T	CCDS13085.1																																																																																				0.517	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			27	15	1	0	2.44723e-14	0.004656	3.22188e-14	27	15				
MCM8	84515	broad.mit.edu	37	20	5939246	5939246	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:5939246A>G	ENST00000378896.3	+	7	1040	c.663A>G	c.(661-663)ctA>ctG	p.L221L	MCM8_ENST00000265187.4_Silent_p.L221L|MCM8_ENST00000378883.1_Silent_p.L221L|MCM8_ENST00000378886.2_Silent_p.L221L	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	221					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ACATTGCTCTAAGAGGGACAG	0.408																																							uc002wmi.2		NA																	0				skin(1)	1						c.(661-663)CTA>CTG		minichromosome maintenance complex component 8							115.0	106.0	109.0					20																	5939246		2203	4300	6503	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5939246A>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.663A>G	20.37:g.5939246A>G						MCM8_uc002wmj.2_Silent_p.L221L|MCM8_uc002wmk.2_Silent_p.L221L|MCM8_uc002wml.2_Silent_p.L221L|MCM8_uc010gbp.2_Silent_p.L221L	p.L221L	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			7	1040	+			221					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.663A>G	CCDS13094.1																																																																																				0.408	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		8	42	0	0	0	0.004482	0	8	42				
PLCB1	23236	broad.mit.edu	37	20	8689329	8689329	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:8689329G>T	ENST00000338037.6	+	12	1207	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	PLCB1_ENST00000378641.3_Missense_Mutation_p.A394S|PLCB1_ENST00000378637.2_Missense_Mutation_p.A394S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	394	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGTGATAGAAGCAATTGCGGA	0.333																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1180-1182)GCA>TCA		phosphoinositide-specific phospholipase C beta 1							143.0	121.0	128.0					20																	8689329		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8689329G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1180G>T	20.37:g.8689329G>T	ENSP00000338185:p.Ala394Ser					PLCB1_uc010zrb.1_Missense_Mutation_p.A293S|PLCB1_uc002wna.2_Missense_Mutation_p.A394S|PLCB1_uc002wnc.1_Missense_Mutation_p.A293S	p.A394S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			12	1183	+			394			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1180G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707392	0.89018	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.66815	-0.23;-0.23;-0.23	5.2	5.2	0.72013	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.79112	0.4391	M	0.71206	2.165	0.80722	D	1	P;P	0.45176	0.845;0.852	P;P	0.55545	0.778;0.487	T	0.80708	-0.1262	10	0.72032	D	0.01	.	18.9309	0.92564	0.0:0.0:1.0:0.0	.	394;394	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	S	394;394;394;314;314	ENSP00000367908:A394S;ENSP00000338185:A394S;ENSP00000367904:A394S	ENSP00000338185:A394S	A	+	1	0	PLCB1	8637329	1.000000	0.71417	0.994000	0.49952	0.857000	0.48899	9.511000	0.98006	2.699000	0.92147	0.655000	0.94253	GCA		0.333	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			17	8	1	0	5.03518e-11	0.007413	6.25436e-11	17	8				
PLCB1	23236	broad.mit.edu	37	20	8717814	8717814	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:8717814A>T	ENST00000338037.6	+	20	2210	c.2183A>T	c.(2182-2184)gAa>gTa	p.E728V	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.E728V|PLCB1_ENST00000378637.2_Missense_Mutation_p.E728V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	728	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTGTCTGGGAAGAAGAACCT	0.378																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2182-2184)GAA>GTA		phosphoinositide-specific phospholipase C beta 1							116.0	107.0	110.0					20																	8717814		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8717814A>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2183A>T	20.37:g.8717814A>T	ENSP00000338185:p.Glu728Val					PLCB1_uc010zrb.1_Missense_Mutation_p.E627V|PLCB1_uc002wna.2_Missense_Mutation_p.E728V|PLCB1_uc002wnc.1_Missense_Mutation_p.E627V|PLCB1_uc002wnd.1_Missense_Mutation_p.E305V	p.E728V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			20	2186	+			728			C2.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2183A>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002951	0.74932	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.051100	0.85682	D	0.000000	T	0.28001	0.0690	L	0.42245	1.32	0.58432	D	0.999998	P;P	0.45212	0.853;0.848	P;P	0.52109	0.53;0.69	T	0.01130	-1.1442	10	0.87932	D	0	.	15.7711	0.78170	1.0:0.0:0.0:0.0	.	728;728	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	V	728;728;728;648;648;74;47	ENSP00000367908:E728V;ENSP00000338185:E728V;ENSP00000367904:E728V;ENSP00000391162:E47V	ENSP00000338185:E728V	E	+	2	0	PLCB1	8665814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.182000	0.69389	0.455000	0.32223	GAA		0.378	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			15	42	0	0	0	0.003163	0	15	42				
PLCB1	23236	broad.mit.edu	37	20	8770180	8770180	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:8770180G>T	ENST00000338037.6	+	30	3321	c.3294G>T	c.(3292-3294)atG>atT	p.M1098I	PLCB1_ENST00000378641.3_Missense_Mutation_p.M1098I|PLCB1_ENST00000378637.2_Missense_Mutation_p.M1098I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1098					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGACAGAGATGATCCGGTCAT	0.398																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3292-3294)ATG>ATT		phosphoinositide-specific phospholipase C beta 1							240.0	210.0	220.0					20																	8770180		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8770180G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3294G>T	20.37:g.8770180G>T	ENSP00000338185:p.Met1098Ile					PLCB1_uc002wna.2_Missense_Mutation_p.M1098I	p.M1098I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			30	3297	+			1098					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3294G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	6.026	0.373169	0.11409	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.27104	1.69;1.69;1.69	5.87	5.87	0.94306	PLC-beta, C-terminal (1);	0.082859	0.85682	D	0.000000	T	0.10680	0.0261	N	0.01668	-0.77	0.46725	D	0.99917	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.25745	-1.0123	10	0.02654	T	1	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1098;1098	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	1098;1098;1098;1018;1018	ENSP00000367908:M1098I;ENSP00000338185:M1098I;ENSP00000367904:M1098I	ENSP00000338185:M1098I	M	+	3	0	PLCB1	8718180	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.959000	0.63666	2.941000	0.99782	0.655000	0.94253	ATG		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			70	26	1	0	7.33394e-39	0.00361	1.2871e-38	70	26				
PLCB4	5332	broad.mit.edu	37	20	9402015	9402015	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:9402015C>A	ENST00000378493.1	+	23	2205	c.2190C>A	c.(2188-2190)ccC>ccA	p.P730P	PLCB4_ENST00000378473.3_Silent_p.P742P|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.P730P|PLCB4_ENST00000378501.2_Silent_p.P730P|PLCB4_ENST00000414679.2_Silent_p.P742P|PLCB4_ENST00000334005.3_Silent_p.P730P			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	730	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGGGTTGCCCACTGACACCA	0.418																																							uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(2188-2190)CCC>CCA		phospholipase C beta 4 isoform b							135.0	120.0	125.0					20																	9402015		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9402015C>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2190C>A	20.37:g.9402015C>A						PLCB4_uc010gbw.1_Silent_p.P730P|PLCB4_uc010gbx.2_Silent_p.P742P|PLCB4_uc002wne.2_Silent_p.P730P|PLCB4_uc002wnh.2_Silent_p.P577P	p.P730P	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			25	2326	+			730			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.2190C>A	CCDS13105.1																																																																																				0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	56	1	0	0.000978159	0.000978	0.00102147	12	56				
PAK7	57144	broad.mit.edu	37	20	9546915	9546915	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:9546915G>T	ENST00000378429.3	-	6	1653	c.1107C>A	c.(1105-1107)agC>agA	p.S369R	PAK7_ENST00000378423.1_Missense_Mutation_p.S369R|PAK7_ENST00000353224.5_Missense_Mutation_p.S369R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	369	Linker.|Poly-Ser.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTGGTGACTGCTTGAGGAAT	0.567																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1105-1107)AGC>AGA		p21-activated kinase 7							181.0	176.0	178.0					20																	9546915		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546915G>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1107C>A	20.37:g.9546915G>T	ENSP00000367686:p.Ser369Arg					PAK7_uc002wnk.2_Missense_Mutation_p.S369R|PAK7_uc002wnj.2_Missense_Mutation_p.S369R|PAK7_uc010gby.1_Missense_Mutation_p.S369R	p.S369R	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1652	-			369			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1107C>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927304	0.34002	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.29917	1.55;1.55;1.55	5.94	2.61	0.31194	.	0.320523	0.42294	D	0.000730	T	0.20700	0.0498	L	0.33485	1.01	0.29942	N	0.821015	B;B	0.31009	0.303;0.0	B;B	0.30855	0.121;0.008	T	0.12553	-1.0543	9	.	.	.	.	9.395	0.38397	0.3329:0.0:0.6671:0.0	.	369;369	B0AZM9;Q9P286	.;PAK7_HUMAN	R	369;369;369;317	ENSP00000367686:S369R;ENSP00000322957:S369R;ENSP00000367679:S369R	.	S	-	3	2	PAK7	9494915	0.417000	0.25432	1.000000	0.80357	0.986000	0.74619	0.426000	0.21363	0.830000	0.34757	0.591000	0.81541	AGC		0.567	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			92	59	1	0	1.05875e-55	0.00361	1.9464e-55	92	59				
FLRT3	23767	broad.mit.edu	37	20	14307564	14307564	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:14307564C>A	ENST00000378053.3	-	2	845	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FLRT3_ENST00000341420.4_Missense_Mutation_p.G197C|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	197					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.G197C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTAGTGAGACCTTGAAGAGAT	0.408																																							uc002wov.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(589-591)GGT>TGT		fibronectin leucine rich transmembrane protein 3							84.0	82.0	83.0					20																	14307564		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307564C>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.589G>T	20.37:g.14307564C>A	ENSP00000367292:p.Gly197Cys					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.G197C	p.G197C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1056	-		Colorectal(1;0.0464)	197			Extracellular (Potential).|LRR 6.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.589G>T	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732867	0.48939	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.61040	0.14;0.14	6.16	5.17	0.71159	.	0.116215	0.56097	D	0.000032	T	0.73125	0.3547	M	0.76574	2.34	0.45594	D	0.998534	P	0.46859	0.885	P	0.57548	0.823	T	0.75331	-0.3355	10	0.87932	D	0	-12.6363	17.0792	0.86594	0.0:0.8735:0.1265:0.0	.	197	Q9NZU0	FLRT3_HUMAN	C	197	ENSP00000367292:G197C;ENSP00000339912:G197C	ENSP00000339912:G197C	G	-	1	0	FLRT3	14255564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.934000	0.63491	2.937000	0.99478	0.650000	0.86243	GGT		0.408	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		59	24	1	0	7.47603e-22	0.00361	1.13937e-21	59	24				
KIF16B	55614	broad.mit.edu	37	20	16407825	16407825	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:16407825C>G	ENST00000354981.2	-	15	1693	c.1536G>C	c.(1534-1536)gtG>gtC	p.V512V	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.V512V|KIF16B_ENST00000408042.1_Silent_p.V512V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	512	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTATCAGAGTCACTGTCCCCC	0.443																																							uc002wpg.1		NA																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(1534-1536)GTG>GTC		kinesin-like motor protein C20orf23							105.0	107.0	106.0					20																	16407825		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16407825C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1536G>C	20.37:g.16407825C>G						KIF16B_uc010gch.1_Silent_p.V512V|KIF16B_uc010gci.1_Silent_p.V512V|KIF16B_uc010gcj.1_Silent_p.V512V	p.V512V	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			15	1694	-			512			FHA.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.1536G>C	CCDS13122.1																																																																																				0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		70	27	0	0	0	0.00361	0	70	27				
CFAP61	26074	broad.mit.edu	37	20	20051508	20051508	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:20051508A>T	ENST00000245957.5	+	3	230	c.154A>T	c.(154-156)Aac>Tac	p.N52Y	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.N52Y|C20orf26_ENST00000451767.2_Missense_Mutation_p.N52Y|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		52										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGAAAAGGCCAACCTTGCTGT	0.473																																							uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(154-156)AAC>TAC		hypothetical protein LOC26074							86.0	72.0	77.0					20																	20051508		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20051508A>T																												ENST00000245957.5:c.154A>T	20.37:g.20051508A>T	ENSP00000245957:p.Asn52Tyr					C20orf26_uc010gcw.1_Missense_Mutation_p.N6Y|C20orf26_uc010zse.1_Missense_Mutation_p.N52Y|C20orf26_uc010zsf.1_Missense_Mutation_p.N52Y	p.N52Y	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	3	230	+			52					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.154A>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559231	0.45590	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	5.72	5.72	0.89469	.	0.053019	0.64402	D	0.000001	T	0.50086	0.1595	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.991;0.997;0.999	T	0.47459	-0.9116	10	0.05525	T	0.97	.	12.4123	0.55473	1.0:0.0:0.0:0.0	.	52;52;6;52	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	Y	6;52;52;52;52;52;52;52	ENSP00000345553:N6Y;ENSP00000245957:N52Y;ENSP00000366521:N52Y;ENSP00000366518:N52Y;ENSP00000417086:N52Y;ENSP00000414537:N52Y	ENSP00000245957:N52Y	N	+	1	0	C20orf26	19999508	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.746000	0.68681	2.194000	0.70268	0.533000	0.62120	AAC		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			8	30	0	0	0	0.004482	0	8	30				
INSM1	3642	broad.mit.edu	37	20	20350430	20350430	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:20350430C>G	ENST00000310227.1	+	1	1666	c.1519C>G	c.(1519-1521)Cgc>Ggc	p.R507G		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	507					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GGTGCCCGTGCGCCCGGCCTG	0.667																																							uc002wrx.2		NA																	0				ovary(1)	1						c.(1519-1521)CGC>GGC		insulinoma-associated 1							13.0	16.0	15.0					20																	20350430		2118	4143	6261	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20350430C>G		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1519C>G	20.37:g.20350430C>G	ENSP00000312631:p.Arg507Gly						p.R507G	NM_002196	NP_002187	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	1666	+			507						Missense_Mutation	SNP	ENST00000310227.1	37	c.1519C>G	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217344	0.79352	.	.	ENSG00000173404	ENST00000310227	T	0.00986	5.47	5.41	5.41	0.78517	.	0.000000	0.64402	U	0.000001	T	0.04497	0.0123	M	0.61703	1.905	0.58432	D	0.999998	D	0.65815	0.995	P	0.61592	0.891	T	0.35649	-0.9780	10	0.87932	D	0	-6.3066	18.7945	0.91988	0.0:1.0:0.0:0.0	.	507	Q01101	INSM1_HUMAN	G	507	ENSP00000312631:R507G	ENSP00000312631:R507G	R	+	1	0	INSM1	20298430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.009000	0.70745	2.522000	0.85027	0.650000	0.86243	CGC		0.667	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		4	26	0	0	0	0.000602	0	4	26				
FOXA2	3170	broad.mit.edu	37	20	22563685	22563685	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:22563685G>C	ENST00000377115.4	-	3	358	c.177C>G	c.(175-177)agC>agG	p.S59R	FOXA2_ENST00000419308.2_Missense_Mutation_p.S65R	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	59	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGGAGCCCGCGCTCATGTTGC	0.692																																							uc002wsn.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(175-177)AGC>AGG		forkhead box A2 isoform 2							48.0	51.0	50.0					20																	22563685		2200	4291	6491	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563685G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.177C>G	20.37:g.22563685G>C	ENSP00000366319:p.Ser59Arg					FOXA2_uc002wsm.2_Missense_Mutation_p.S65R	p.S59R	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN			3	367	-	Lung NSC(19;0.188)		59			Transactivation domain 1 (By similarity).		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.177C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140452	0.56936	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	D;D;D	0.90504	-2.66;-2.66;-2.68	4.42	-0.77	0.11005	Fork-head N-terminal (1);	.	.	.	.	D	0.87398	0.6167	L	0.29908	0.895	0.31866	N	0.620356	B;P	0.38597	0.105;0.639	B;P	0.47603	0.117;0.551	D	0.84770	0.0767	9	0.72032	D	0.01	.	9.7964	0.40737	0.4073:0.0:0.5927:0.0	.	59;65	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	R	59;59;65	ENSP00000366319:S59R;ENSP00000400341:S59R;ENSP00000315955:S65R	ENSP00000315955:S65R	S	-	3	2	FOXA2	22511685	0.199000	0.23386	0.991000	0.47740	0.995000	0.86356	-0.117000	0.10708	-0.025000	0.13918	0.467000	0.42956	AGC		0.692	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			60	35	0	0	0	0.00361	0	60	35				
SSTR4	6754	broad.mit.edu	37	20	23016580	23016580	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23016580G>A	ENST00000255008.3	+	1	524	c.460G>A	c.(460-462)Gcg>Acg	p.A154T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	154					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCTCTGCGCGCGGCGACCTA	0.662																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(460-462)GCG>ACG		somatostatin receptor 4							50.0	53.0	52.0					20																	23016580		2201	4294	6495	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016580G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.460G>A	20.37:g.23016580G>A	ENSP00000255008:p.Ala154Thr						p.A154T	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	524	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		154			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.460G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188817	0.38609	.	.	ENSG00000132671	ENST00000255008	T	0.19669	2.13	3.87	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000009	T	0.20088	0.0483	L	0.48877	1.53	0.39955	D	0.974591	B	0.15473	0.013	B	0.21708	0.036	T	0.07481	-1.0770	10	0.66056	D	0.02	.	11.175	0.48595	0.0:0.0:0.8144:0.1856	.	154	P31391	SSR4_HUMAN	T	154	ENSP00000255008:A154T	ENSP00000255008:A154T	A	+	1	0	SSTR4	22964580	0.963000	0.33076	0.154000	0.22540	0.565000	0.35776	1.841000	0.39240	0.770000	0.33336	0.655000	0.94253	GCG		0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			9	65	0	0	0	0.004482	0	9	65				
SSTR4	6754	broad.mit.edu	37	20	23017029	23017029	+	Missense_Mutation	SNP	C	C	G	rs4988475		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23017029C>G	ENST00000255008.3	+	1	973	c.909C>G	c.(907-909)aaC>aaG	p.N303K	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	303					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTATGCCAACAGCTGCGCCA	0.577																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(907-909)AAC>AAG		somatostatin receptor 4							188.0	185.0	186.0					20																	23017029		2202	4300	6502	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017029C>G		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.909C>G	20.37:g.23017029C>G	ENSP00000255008:p.Asn303Lys						p.N303K	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	973	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		303			Helical; Name=7; (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.909C>G	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917528	0.73098	.	.	ENSG00000132671	ENST00000255008	T	0.50548	0.74	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.75428	0.3848	H	0.94734	3.575	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.83326	-0.0015	10	0.87932	D	0	.	13.4152	0.60963	0.0:1.0:0.0:0.0	.	303	P31391	SSR4_HUMAN	K	303	ENSP00000255008:N303K	ENSP00000255008:N303K	N	+	3	2	SSTR4	22965029	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.398000	0.52579	1.694000	0.51137	0.655000	0.94253	AAC		0.577	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			104	55	0	0	0	0.00361	0	104	55				
NXT1	29107	broad.mit.edu	37	20	23334706	23334706	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23334706G>A	ENST00000254998.2	+	2	415	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000452395.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	10					protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAAGACCTATGTGGATCAGGC	0.557																																							uc002wsx.1		NA																	0				ovary(1)	1						c.(28-30)GTG>ATG		NTF2-like export factor 1							93.0	92.0	92.0					20																	23334706		2203	4300	6503	SO:0001583	missense	29107					cytoplasm|nuclear pore		g.chr20:23334706G>A	AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.28G>A	20.37:g.23334706G>A	ENSP00000254998:p.Val10Met						p.V10M	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN			2	415	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		10						Missense_Mutation	SNP	ENST00000254998.2	37	c.28G>A	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030085	0.75504	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.17	4.22	0.49857	.	0.061281	0.64402	D	0.000004	T	0.60586	0.2280	M	0.71581	2.175	0.80722	D	1	P	0.51057	0.941	P	0.48571	0.582	T	0.61407	-0.7069	9	0.37606	T	0.19	.	9.7988	0.40751	0.0928:0.0:0.9072:0.0	.	10	Q9UKK6	NXT1_HUMAN	M	10	.	ENSP00000254998:V10M	V	+	1	0	NXT1	23282706	1.000000	0.71417	0.932000	0.37286	0.942000	0.58702	8.768000	0.91737	1.562000	0.49601	0.655000	0.94253	GTG		0.557	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		14	88	0	0	0	0.00245	0	14	88				
CST5	1473	broad.mit.edu	37	20	23856830	23856830	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:23856830C>G	ENST00000304710.4	-	3	497	c.424G>C	c.(424-426)Gtc>Ctc	p.V142L		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	142					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GACCCCTAGACTTTCCGGCAC	0.542																																							uc002wtr.1		NA																	0					0						c.(424-426)GTC>CTC		cystatin D precursor							85.0	91.0	89.0					20																	23856830		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23856830C>G		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.424G>C	20.37:g.23856830C>G	ENSP00000307132:p.Val142Leu						p.V142L	NM_001900	NP_001891	P28325	CYTD_HUMAN			3	491	-			142					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.424G>C	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	C	7.377	0.628072	0.14257	.	.	ENSG00000170367	ENST00000304710	T	0.10288	2.89	2.01	-0.15	0.13416	.	1.332720	0.05453	U	0.549749	T	0.09555	0.0235	L	0.43152	1.355	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.40156	-0.9578	10	0.46703	T	0.11	.	2.4623	0.04544	0.2896:0.5289:0.0:0.1815	.	142	P28325	CYTD_HUMAN	L	142	ENSP00000307132:V142L	ENSP00000307132:V142L	V	-	1	0	CST5	23804830	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.040000	0.12104	-0.019000	0.14055	0.448000	0.29417	GTC		0.542	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		27	79	0	0	0	0.008361	0	27	79				
ZNF341	84905	broad.mit.edu	37	20	32357894	32357894	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:32357894A>T	ENST00000375200.1	+	10	1783	c.1418A>T	c.(1417-1419)tAc>tTc	p.Y473F	ZNF341_ENST00000342427.2_Missense_Mutation_p.Y466F	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CTCAAGGTGTACAAGTGTGTG	0.577																																							uc002wzy.2		NA																	0				ovary(2)	2						c.(1417-1419)TAC>TTC		zinc finger protein 341							49.0	43.0	45.0					20																	32357894		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32357894A>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1418A>T	20.37:g.32357894A>T	ENSP00000364346:p.Tyr473Phe					ZNF341_uc002wzx.2_Missense_Mutation_p.Y466F|ZNF341_uc010geq.2_Missense_Mutation_p.Y383F|ZNF341_uc010ger.2_RNA	p.Y473F	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			10	1438	+			473			C2H2-type 5.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.1418A>T		.	.	.	.	.	.	.	.	.	.	A	21.9	4.215244	0.79352	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.37058	1.22;1.22	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	L	0.35341	1.055	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.80764	0.991;0.985;0.994	T	0.43376	-0.9395	10	0.40728	T	0.16	-28.7164	15.4571	0.75325	1.0:0.0:0.0:0.0	.	414;473;466	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	F	466;473	ENSP00000344308:Y466F;ENSP00000364346:Y473F	ENSP00000344308:Y466F	Y	+	2	0	ZNF341	31821555	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	8.898000	0.92538	2.114000	0.64651	0.386000	0.25728	TAC		0.577	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				21	2	0	0	0	0.010504	0	21	2				
DLGAP4	22839	broad.mit.edu	37	20	35127691	35127691	+	Intron	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:35127691C>T	ENST00000373907.2	+	8	2209				DLGAP4_ENST00000339266.5_Intron|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P686L|DLGAP4_ENST00000475894.1_Intron|DLGAP4_ENST00000340491.4_Intron|DLGAP4_ENST00000373913.3_Missense_Mutation_p.P686L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GACAACGGACCCAAAGCGATC	0.572																																							uc002xff.2		NA																	0				skin(2)|ovary(1)	3						c.(2056-2058)CCC>CTC		disks large-associated protein 4 isoform a							130.0	92.0	105.0					20																	35127691		2203	4300	6503	SO:0001627	intron_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35127691C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2011-300C>T	20.37:g.35127691C>T						DLGAP4_uc010zvp.1_Missense_Mutation_p.P686L|DLGAP4_uc002xfg.2_Intron|DLGAP4_uc002xfh.2_Intron|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'UTR	p.P686L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			9	2492	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	684					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2057C>T		.	.	.	.	.	.	.	.	.	.	C	9.244	1.038969	0.19669	.	.	ENSG00000080845	ENST00000373913;ENST00000401952	T;T	0.66460	-0.21;-0.21	5.49	4.52	0.55395	.	.	.	.	.	T	0.63177	0.2489	M	0.78223	2.4	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57888	-0.7733	9	0.10902	T	0.67	.	11.5453	0.50690	0.1787:0.8213:0.0:0.0	.	686	Q9Y2H0-1	.	L	686	ENSP00000363023:P686L;ENSP00000384954:P686L	ENSP00000363023:P686L	P	+	2	0	DLGAP4	34561105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.357000	0.34090	1.270000	0.44297	0.650000	0.86243	CCC		0.572	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		27	7	0	0	0	0.002445	0	27	7				
RALGAPB	57148	broad.mit.edu	37	20	37150226	37150226	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:37150226G>C	ENST00000262879.6	+	10	1788	c.1504G>C	c.(1504-1506)Gca>Cca	p.A502P	RALGAPB_ENST00000397038.1_Missense_Mutation_p.A280P|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397042.3_Missense_Mutation_p.A502P|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A502P			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	502					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TATGTTTGATGCAAGTGAATT	0.448																																							uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(1504-1506)GCA>CCA		Ral GTPase activating protein, beta subunit							171.0	149.0	157.0					20																	37150226		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37150226G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1504G>C	20.37:g.37150226G>C	ENSP00000262879:p.Ala502Pro					RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.A502P|RALGAPB_uc002xiy.1_Missense_Mutation_p.A502P|RALGAPB_uc002xiz.2_Missense_Mutation_p.A280P|RALGAPB_uc002xja.1_Missense_Mutation_p.A229P	p.A502P	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			10	1761	+			502					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1504G>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654741	0.29425	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.94	5.0	0.66597	.	0.188026	0.56097	D	0.000023	T	0.48537	0.1505	L	0.29908	0.895	0.54753	D	0.99998	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;P	0.48227	0.571;0.571;0.571;0.571	T	0.40098	-0.9581	9	0.28530	T	0.3	.	14.9933	0.71406	0.068:0.0:0.932:0.0	.	330;502;502;502	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	P	502;502;502;280;502;330	.	ENSP00000262879:A502P	A	+	1	0	RALGAPB	36583640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.318000	0.59190	1.533000	0.49186	0.561000	0.74099	GCA		0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		81	9	0	0	0	0.00361	0	81	9				
CHD6	84181	broad.mit.edu	37	20	40049492	40049492	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:40049492C>A	ENST00000373233.3	-	31	5960	c.5783G>T	c.(5782-5784)aGg>aTg	p.R1928M		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1928					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGGAAAGCCCTCTGTAGCCC	0.507																																							uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5782-5784)AGG>ATG		chromodomain helicase DNA binding protein 6							124.0	117.0	119.0					20																	40049492		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049492C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5783G>T	20.37:g.40049492C>A	ENSP00000362330:p.Arg1928Met						p.R1928M	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5961	-		Myeloproliferative disorder(115;0.00425)	1928					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5783G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.016067	0.07959	.	.	ENSG00000124177	ENST00000373233	D	0.86164	-2.08	5.86	1.86	0.25419	.	0.258337	0.34223	N	0.004151	T	0.81264	0.4786	L	0.36672	1.1	0.09310	N	1	B	0.32425	0.371	B	0.39185	0.293	T	0.70490	-0.4857	10	0.44086	T	0.13	-3.6019	8.0899	0.30795	0.0:0.5515:0.0:0.4485	.	1928	Q8TD26	CHD6_HUMAN	M	1928	ENSP00000362330:R1928M	ENSP00000362330:R1928M	R	-	2	0	CHD6	39482906	0.004000	0.15560	0.003000	0.11579	0.069000	0.16628	1.700000	0.37815	0.124000	0.18369	-0.136000	0.14681	AGG		0.507	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			114	9	1	0	2.13259e-42	0.00361	3.80131e-42	114	9				
PTPRT	11122	broad.mit.edu	37	20	40979280	40979280	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:40979280C>T	ENST00000373187.1	-	11	1852	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	PTPRT_ENST00000373198.4_Missense_Mutation_p.G618E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G618E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G618E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G618E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G618E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G618E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	618	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACAGGAGCTCCCCGGGACTG	0.537																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1852-1854)GGA>GAA		protein tyrosine phosphatase, receptor type, T							151.0	158.0	156.0					20																	40979280		2029	4181	6210	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40979280C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1853G>A	20.37:g.40979280C>T	ENSP00000362283:p.Gly618Glu					PTPRT_uc010ggj.2_Missense_Mutation_p.G618E	p.G618E	NM_007050	NP_008981	O14522	PTPRT_HUMAN			11	2037	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	618			Extracellular (Potential).|Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1853G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787947	0.90367	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.37235	1.25;1.24;1.24;1.21;1.22;1.27;1.26	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.69308	-0.5179	10	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	618;618	O14522-1;O14522	.;PTPRT_HUMAN	E	618	ENSP00000362286:G618E;ENSP00000362283:G618E;ENSP00000362289:G618E;ENSP00000348408:G618E;ENSP00000362294:G618E;ENSP00000362280:G618E;ENSP00000362297:G618E	ENSP00000348408:G618E	G	-	2	0	PTPRT	40412694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.583000	0.82559	2.802000	0.96397	0.655000	0.94253	GGA		0.537	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			72	16	0	0	0	0.00361	0	72	16				
CSE1L	1434	broad.mit.edu	37	20	47675016	47675016	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:47675016G>T	ENST00000262982.2	+	2	139	c.16G>T	c.(16-18)Gca>Tca	p.A6S	CSE1L_ENST00000542325.1_5'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.A6S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	6					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACTCAGCGATGCAAATCTGCA	0.333																																							uc002xty.2		NA																	0				large_intestine(1)|skin(1)	2						c.(16-18)GCA>TCA		CSE1 chromosome segregation 1-like protein							94.0	102.0	100.0					20																	47675016		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47675016G>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.16G>T	20.37:g.47675016G>T	ENSP00000262982:p.Ala6Ser					CSE1L_uc010zyg.1_5'UTR|CSE1L_uc010ghx.2_Missense_Mutation_p.A6S	p.A6S	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		2	150	+			6					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.16G>T	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318123	0.40996	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.18502	2.21;2.5	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	0.100812	0.64402	D	0.000003	T	0.11793	0.0287	N	0.17379	0.485	0.80722	D	1	B;B	0.25235	0.121;0.026	B;B	0.22880	0.042;0.005	T	0.11991	-1.0565	10	0.09590	T	0.72	-13.1077	18.953	0.92646	0.0:0.0:1.0:0.0	.	6;6	F8W904;P55060	.;XPO2_HUMAN	S	6	ENSP00000262982:A6S;ENSP00000379495:A6S	ENSP00000262982:A6S	A	+	1	0	CSE1L	47108423	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.337000	0.79256	2.466000	0.83321	0.591000	0.81541	GCA		0.333	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		56	11	1	0	4.48484e-38	0.00361	7.82823e-38	56	11				
KCNB1	3745	broad.mit.edu	37	20	47990813	47990813	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:47990813T>A	ENST00000371741.4	-	2	1450	c.1284A>T	c.(1282-1284)aaA>aaT	p.K428N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	428					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GTTTGATTGCTTTCTCCTGTC	0.498																																							uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(1282-1284)AAA>AAT		potassium voltage-gated channel, Shab-related							113.0	108.0	110.0					20																	47990813		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990813T>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1284A>T	20.37:g.47990813T>A	ENSP00000360806:p.Lys428Asn					KCNB1_uc002xus.1_Missense_Mutation_p.K428N	p.K428N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1448	-			428			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1284A>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008064	0.54361	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97186	-4.28	5.77	1.91	0.25777	.	0.048502	0.85682	D	0.000000	D	0.97773	0.9269	M	0.77103	2.36	0.58432	D	0.999997	D	0.89917	1.0	D	0.79784	0.993	D	0.97149	0.9830	10	0.87932	D	0	.	9.4936	0.38976	0.0:0.2622:0.0:0.7378	.	428	Q14721	KCNB1_HUMAN	N	428;383	ENSP00000360806:K428N	ENSP00000360806:K428N	K	-	3	2	KCNB1	47424220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.130000	0.31393	0.546000	0.28920	0.533000	0.62120	AAA		0.498	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		118	19	0	0	0	0.00361	0	118	19				
SALL4	57167	broad.mit.edu	37	20	50406859	50406859	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:50406859C>G	ENST00000217086.4	-	2	2274	c.2163G>C	c.(2161-2163)acG>acC	p.T721T	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	721					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAACCCTAGCGTGGGTGATG	0.597																																							uc002xwh.3		NA																	0				ovary(2)	2						c.(2161-2163)ACG>ACC		sal-like 4							41.0	38.0	39.0					20																	50406859		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406859C>G	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2163G>C	20.37:g.50406859C>G						SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.T721T	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	2264	-			721					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.2163G>C	CCDS13438.1																																																																																				0.597	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			41	3	0	0	0	0.007835	0	41	3				
RAE1	8480	broad.mit.edu	37	20	55929848	55929849	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:55929848_55929849TA>AT	ENST00000395841.2	+	3	591_592	c.171_172TA>AT	c.(169-174)ctTAtt>ctATtt	p.I58F	RAE1_ENST00000371242.2_Missense_Mutation_p.I58F|RAE1_ENST00000395840.2_Missense_Mutation_p.I58F|RAE1_ENST00000527947.1_Missense_Mutation_p.I58F	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	58					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGAACTTTCTTATTGCAGGATC	0.421																																							uc002xyg.2		NA																	0					0						c.(169-174)CTTATT>CTATTT		RAE1 (RNA export 1, S.pombe) homolog																																				SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55929848_55929849TA>AT	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	Exception_encountered	20.37:g.55929848_55929849delinsAT	ENSP00000379182:p.Ile58Phe					RAE1_uc010gis.1_Missense_Mutation_p.L19Y|RAE1_uc010git.1_Missense_Mutation_p.I58F|RAE1_uc002xyh.2_Missense_Mutation_p.I58F|RAE1_uc002xyi.2_Missense_Mutation_p.I58F	p.I58F	NM_003610	NP_003601	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		3	512_513	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		58					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	DNP	ENST00000395841.2	37	c.171_172TA>AT	CCDS13458.1																																																																																				0.421	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			19	64	0	0	0	0.004672	0	19	64				
ZBP1	81030	broad.mit.edu	37	20	56188232	56188232	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:56188232G>A	ENST00000371173.3	-	5	834	c.657C>T	c.(655-657)gtC>gtT	p.V219V	ZBP1_ENST00000395822.3_Silent_p.V144V|ZBP1_ENST00000340462.4_Silent_p.V196V|ZBP1_ENST00000541799.1_Silent_p.V219V|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000343535.4_Silent_p.V219V	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	219					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCTCCCTGGAGACTGTCTGTC	0.572																																							uc002xyo.2		NA																	0				ovary(2)	2						c.(655-657)GTC>GTT		Z-DNA binding protein 1 isoform a							145.0	123.0	130.0					20																	56188232		2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56188232G>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.657C>T	20.37:g.56188232G>A						ZBP1_uc010gjm.2_Silent_p.V218V|ZBP1_uc002xyp.2_Silent_p.V144V|ZBP1_uc010zzn.1_Silent_p.V219V	p.V219V	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	938	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		219			RIP homotypic interaction motif (RHIM) 1.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.657C>T	CCDS13461.1																																																																																				0.572	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		47	7	0	0	0	0.002852	0	47	7				
ZNF831	128611	broad.mit.edu	37	20	57768318	57768318	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:57768318G>T	ENST00000371030.2	+	1	2244	c.2244G>T	c.(2242-2244)ctG>ctT	p.L748L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	748							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGAGCCCCCTGGTCTCTCCAA	0.642																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(2242-2244)CTG>CTT		zinc finger protein 831							17.0	21.0	20.0					20																	57768318		1941	4140	6081	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768318G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2244G>T	20.37:g.57768318G>T							p.L748L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2244	+	all_lung(29;0.0085)		748					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2244G>T	CCDS42894.1																																																																																				0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		16	1	1	0	2.23348e-06	0.004007	2.47965e-06	16	1				
ZNF831	128611	broad.mit.edu	37	20	57828094	57828094	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:57828094G>A	ENST00000371030.2	+	4	4089	c.4089G>A	c.(4087-4089)aaG>aaA	p.K1363K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1363							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTTGTGGGAAGGAAGAGAAGA	0.468																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(4087-4089)AAG>AAA		zinc finger protein 831							98.0	96.0	97.0					20																	57828094		1913	4122	6035	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57828094G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4089G>A	20.37:g.57828094G>A							p.K1363K	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			4	4089	+	all_lung(29;0.0085)		1363					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.4089G>A	CCDS42894.1																																																																																				0.468	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		76	11	0	0	0	0.00361	0	76	11				
CDH4	1002	broad.mit.edu	37	20	60509225	60509225	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:60509225C>A	ENST00000360469.5	+	15	2579	c.2491C>A	c.(2491-2493)Ccg>Acg	p.P831T	CDH4_ENST00000543233.1_Missense_Mutation_p.P757T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	831					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCCCAGTACCCGATCAGGCC	0.677																																							uc002ybn.1		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(2491-2493)CCG>ACG		cadherin 4, type 1 preproprotein							28.0	32.0	31.0					20																	60509225		2201	4297	6498	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60509225C>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2491C>A	20.37:g.60509225C>A	ENSP00000353656:p.Pro831Thr					CDH4_uc002ybp.1_Missense_Mutation_p.P757T	p.P831T	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		15	2505	+			831			Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2491C>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113179	0.77210	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.76578	-1.03;-1.03	4.52	4.52	0.55395	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.84759	0.5543	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84384	0.0551	9	.	.	.	.	17.2442	0.87022	0.0:1.0:0.0:0.0	.	831	P55283	CADH4_HUMAN	T	831;739;757	ENSP00000353656:P831T;ENSP00000443301:P757T	.	P	+	1	0	CDH4	59942620	1.000000	0.71417	0.992000	0.48379	0.452000	0.32318	7.537000	0.82033	2.054000	0.61138	0.491000	0.48974	CCG		0.677	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		47	6	1	0	3.39706e-21	0.00361	5.12873e-21	47	6				
YTHDF1	54915	broad.mit.edu	37	20	61833654	61833654	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61833654C>A	ENST00000370339.3	-	4	1979	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	YTHDF1_ENST00000370333.4_Missense_Mutation_p.E496D|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	546							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GCACCACCTCCTCCTCCTCCT	0.542																																							uc002yeh.2		NA																	0				ovary(2)	2						c.(1636-1638)GAG>GAT		YTH domain family, member 1							123.0	98.0	106.0					20																	61833654		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61833654C>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1638G>T	20.37:g.61833654C>A	ENSP00000359364:p.Glu546Asp					YTHDF1_uc011aaq.1_Missense_Mutation_p.E496D	p.E546D	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN			4	1932	-			546					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1638G>T	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306794	0.60305	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.26660	1.72;1.72	4.48	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.79123	2.44	0.58432	D	0.999999	D	0.64830	0.994	D	0.70716	0.97	T	0.36480	-0.9746	10	0.14656	T	0.56	-46.0444	6.757	0.23520	0.0:0.7011:0.0:0.2989	.	546	Q9BYJ9	YTHD1_HUMAN	D	546;496	ENSP00000359364:E546D;ENSP00000359358:E496D	ENSP00000359358:E496D	E	-	3	2	YTHDF1	61304099	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	0.297000	0.19101	2.200000	0.70718	0.591000	0.81541	GAG		0.542	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		62	98	1	0	2.32582e-20	0.00361	3.45213e-20	62	98				
COL20A1	57642	broad.mit.edu	37	20	61937381	61937381	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61937381G>C	ENST00000358894.6	+	5	586	c.486G>C	c.(484-486)ccG>ccC	p.P162P	COL20A1_ENST00000422202.1_Silent_p.P162P|COL20A1_ENST00000326996.6_Silent_p.P162P|COL20A1_ENST00000435874.1_Silent_p.P162P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	162					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCAGGATCCGCGCACTCCTG	0.627																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(484-486)CCG>CCC		collagen, type XX, alpha 1							38.0	42.0	41.0					20																	61937381		1960	4142	6102	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61937381G>C	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.486G>C	20.37:g.61937381G>C						COL20A1_uc011aav.1_5'UTR	p.P162P	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			5	586	+	all_cancers(38;1.39e-10)		162					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.486G>C	CCDS46628.1																																																																																				0.627	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		13	62	0	0	0	0.001855	0	13	62				
COL20A1	57642	broad.mit.edu	37	20	61941839	61941839	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61941839G>C	ENST00000358894.6	+	11	1470	c.1370G>C	c.(1369-1371)gGc>gCc	p.G457A	COL20A1_ENST00000422202.1_Missense_Mutation_p.G464A|COL20A1_ENST00000326996.6_Missense_Mutation_p.G457A|COL20A1_ENST00000435874.1_Missense_Mutation_p.G464A	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTTGGCGAAGGCCTGCGGGGC	0.692																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(1369-1371)GGC>GCC		collagen, type XX, alpha 1							16.0	20.0	18.0					20																	61941839		1997	4152	6149	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61941839G>C	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1370G>C	20.37:g.61941839G>C	ENSP00000351767:p.Gly457Ala					COL20A1_uc011aav.1_Missense_Mutation_p.G278A	p.G457A	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			11	1470	+	all_cancers(38;1.39e-10)		457			Fibronectin type-III 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1370G>C	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	4.134	0.023205	0.08006	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.4	4.4	0.53042	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.134116	0.49916	D	0.000124	T	0.41789	0.1174	L	0.49513	1.565	0.28292	N	0.923486	B;B	0.33919	0.378;0.432	B;B	0.33121	0.098;0.158	T	0.32587	-0.9901	10	0.18276	T	0.48	.	15.789	0.78338	0.0:0.0:1.0:0.0	.	464;457	Q9P218-2;Q9P218	.;COKA1_HUMAN	A	457;457;464;464	ENSP00000351767:G457A;ENSP00000323077:G457A;ENSP00000408690:G464A;ENSP00000414753:G464A	ENSP00000323077:G457A	G	+	2	0	COL20A1	61412284	0.985000	0.35326	0.586000	0.28679	0.097000	0.18754	3.615000	0.54167	2.009000	0.58944	0.467000	0.42956	GGC		0.692	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		8	17	0	0	0	0.00308	0	8	17				
CHRNA4	1137	broad.mit.edu	37	20	61981848	61981848	+	Silent	SNP	G	G	T	rs121912258		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:61981848G>T	ENST00000370263.4	-	5	1136	c.915C>A	c.(913-915)ctC>ctA	p.L305L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	305					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ACTCGCCGATGAGTGGGATGA	0.592																																							uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(913-915)CTC>CTA		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						226.0	160.0	182.0					20																	61981848		2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981848G>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.915C>A	20.37:g.61981848G>T						CHRNA4_uc002yet.1_Silent_p.L129L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.L234L|CHRNA4_uc002yev.1_Silent_p.L129L|CHRNA4_uc010gkf.1_Silent_p.L129L	p.L305L	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	1093	-	all_cancers(38;1.71e-10)		305					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.915C>A	CCDS13517.1																																																																																				0.592	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			46	93	1	0	8.00217e-19	0.00361	1.1558e-18	46	93				
KCNQ2	3785	broad.mit.edu	37	20	62038193	62038193	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62038193G>T	ENST00000359125.2	-	17	2597	c.2423C>A	c.(2422-2424)tCc>tAc	p.S808Y	KCNQ2_ENST00000357249.2_Missense_Mutation_p.S790Y|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S780Y|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S808Y|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S816Y|KCNQ2_ENST00000354587.3_Missense_Mutation_p.S816Y|KCNQ2_ENST00000344462.4_Missense_Mutation_p.S777Y	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	808					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTTGGACTGGGAGATGCTGAA	0.637																																							uc002yey.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2422-2424)TCC>TAC		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						70.0	44.0	53.0					20																	62038193		2196	4300	6496	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038193G>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2423C>A	20.37:g.62038193G>T	ENSP00000352035:p.Ser808Tyr					KCNQ2_uc002yez.1_Missense_Mutation_p.S777Y|KCNQ2_uc002yfa.1_Missense_Mutation_p.S790Y|KCNQ2_uc002yfb.1_Missense_Mutation_p.S780Y	p.S808Y	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2600	-	all_cancers(38;1.24e-11)		808			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.2423C>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847983	0.91277	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.54323	1.7	0.53688	D	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.76005	-0.3117	10	0.72032	D	0.01	-30.8254	18.1678	0.89734	0.0:0.0:1.0:0.0	.	780;790;777;808	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	Y	790;808;778;816;808;777;780;804;816	ENSP00000349789:S790Y;ENSP00000352035:S808Y;ENSP00000359246:S778Y;ENSP00000346601:S816Y;ENSP00000352718:S808Y;ENSP00000399612:S777Y;ENSP00000353668:S780Y;ENSP00000339611:S804Y;ENSP00000359244:S816Y	ENSP00000339611:S804Y	S	-	2	0	KCNQ2	61508637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.352000	0.79404	2.305000	0.77605	0.491000	0.48974	TCC		0.637	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		17	26	1	0	3.41278e-10	0.00499	4.16424e-10	17	26				
SRMS	6725	broad.mit.edu	37	20	62172823	62172823	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62172823A>G	ENST00000217188.1	-	6	1137	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GAAGTCAGCCACCTTGCAGGC	0.706																																							uc002yfi.1		NA																	0				stomach(1)|lung(1)	2						c.(1096-1098)GTG>GCG		src-related kinase lacking C-terminal regulatory							21.0	22.0	22.0					20																	62172823		2195	4291	6486	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172823A>G		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1097T>C	20.37:g.62172823A>G	ENSP00000217188:p.Val366Ala						p.V366A	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		6	1138	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		366			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1097T>C	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066201	0.76187	.	.	ENSG00000125508	ENST00000217188	T	0.13901	2.55	4.58	3.48	0.39840	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.138473	0.31922	N	0.006849	T	0.38532	0.1044	M	0.88979	2.995	0.34828	D	0.739437	D	0.55800	0.973	D	0.65010	0.931	T	0.56932	-0.7897	10	0.87932	D	0	.	9.7863	0.40677	0.9164:0.0:0.0835:0.0	.	366	Q9H3Y6	SRMS_HUMAN	A	366	ENSP00000217188:V366A	ENSP00000217188:V366A	V	-	2	0	SRMS	61643267	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	5.812000	0.69194	0.730000	0.32425	0.459000	0.35465	GTG		0.706	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		18	27	0	0	0	0.006122	0	18	27				
HELZ2	85441	broad.mit.edu	37	20	62193511	62193511	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62193511C>A	ENST00000467148.1	-	10	6512	c.6443G>T	c.(6442-6444)gGa>gTa	p.G2148V	HELZ2_ENST00000427522.2_Missense_Mutation_p.G1579V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2148	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGGCGGCCTCCGGGGATGTT	0.662																																							uc002yfm.2		NA																	0				central_nervous_system(2)	2						c.(6442-6444)GGA>GTA		PPAR-alpha interacting complex protein 285							12.0	14.0	13.0					20																	62193511		2145	4203	6348	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62193511C>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6443G>T	20.37:g.62193511C>A	ENSP00000417401:p.Gly2148Val					PRIC285_uc002yfl.1_Missense_Mutation_p.G1579V	p.G2148V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		11	7335	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2148					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.6443G>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	2.642	-0.284028	0.05642	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82344	-1.6;-1.6	3.91	0.646	0.17789	.	1.421770	0.04468	N	0.375601	D	0.83147	0.5191	L	0.54323	1.7	0.09310	N	0.999995	B;P	0.35944	0.394;0.529	B;B	0.42386	0.115;0.386	T	0.70572	-0.4835	10	0.72032	D	0.01	-5.4029	8.9669	0.35883	0.0:0.4979:0.42:0.0821	.	2148;1579	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	1579;2148	ENSP00000393257:G1579V;ENSP00000417401:G2148V	ENSP00000393257:G1579V	G	-	2	0	RP4-697K14.7	61663955	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.387000	0.20718	0.145000	0.18977	-0.802000	0.03209	GGA		0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		19	33	1	0	5.35267e-07	0.007413	6.03971e-07	19	33				
RTEL1	51750	broad.mit.edu	37	20	62292793	62292793	+	Missense_Mutation	SNP	C	C	T	rs143461704	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62292793C>T	ENST00000360203.5	+	3	570	c.245C>T	c.(244-246)cCg>cTg	p.P82L	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P82L|RTEL1_ENST00000318100.4_Missense_Mutation_p.P82L|RTEL1_ENST00000508582.2_Missense_Mutation_p.P82L|RTEL1_ENST00000370018.3_Missense_Mutation_p.P82L|RTEL1_ENST00000488316.1_3'UTR					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGCTTTTCCCGGATCGGGCC	0.647																																							uc002yfu.1		NA																	0					0						c.(244-246)CCG>CTG		regulator of telomere elongation helicase 1		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	64.0	58.0	60.0		245,245	-9.9	0.0	20	dbSNP_134	60	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	RTEL1	NM_016434.3,NM_032957.4	98,98	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	benign,benign	82/1220,82/1244	62292793	8,12998	2203	4300	6503	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62292793C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.245C>T	20.37:g.62292793C>T	ENSP00000353332:p.Pro82Leu					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.P82L|RTEL1_uc011abd.1_Missense_Mutation_p.P82L|RTEL1_uc002yfv.2_Missense_Mutation_p.P82L|RTEL1_uc011abe.1_5'UTR|RTEL1_uc002yfw.2_RNA	p.P82L	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		3	588	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		82			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000360203.5	37	c.245C>T		.	.	.	.	.	.	.	.	.	.	C	11.36	1.616089	0.28801	0.0	9.3E-4	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	D;D;D;D;T	0.82711	-1.61;-1.64;-1.55;-1.62;0.4	4.94	-9.87	0.00470	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	1.442550	0.04290	N	0.345353	T	0.72724	0.3496	L	0.31065	0.9	0.09310	N	0.999999	B;B;B;B	0.14012	0.009;0.002;0.002;0.005	B;B;B;B	0.13407	0.009;0.001;0.001;0.003	T	0.59032	-0.7530	10	0.17832	T	0.49	0.1881	18.3241	0.90247	0.096:0.8043:0.0:0.0997	.	82;82;82;82	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	L	82	ENSP00000359035:P82L;ENSP00000322287:P82L;ENSP00000424307:P82L;ENSP00000353332:P82L;ENSP00000349265:P82L	ENSP00000349265:P82L	P	+	2	0	AL353715.1	61763237	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.387000	0.07361	-2.577000	0.00464	-0.379000	0.06801	CCG		0.647	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		17	49	0	0	0	0.006122	0	17	49				
MYT1	4661	broad.mit.edu	37	20	62839650	62839650	+	Silent	SNP	G	G	A	rs148738850		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62839650G>A	ENST00000328439.1	+	7	1465	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	MYT1_ENST00000536311.1_Silent_p.S367S|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGACGAGTCGGAGATGCAGG	0.612													g|||	1	0.000199681	0.0	0.0	5008	,	,		17664	0.0		0.0	False		,,,				2504	0.001				GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(1099-1101)TCG>TCA		myelin transcription factor 1				3,4403	6.2+/-15.9	0,3,2200	85.0	78.0	80.0		1101	-8.9	0.9	20	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	MYT1	NM_004535.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		367/1122	62839650	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839650G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1101G>A	20.37:g.62839650G>A						MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	p.S367S	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	1465	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		367					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1101G>A	CCDS13558.1																																																																																				0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		47	89	0	0	0	0.00361	0	47	89				
MYT1	4661	broad.mit.edu	37	20	62848565	62848565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:62848565C>T	ENST00000328439.1	+	11	2141	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	MYT1_ENST00000536311.1_Nonsense_Mutation_p.Q593*|MYT1_ENST00000360149.4_Nonsense_Mutation_p.Q295*	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTCGATGCTCAGGTTTTTGG	0.522																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(1777-1779)CAG>TAG		myelin transcription factor 1							111.0	103.0	106.0					20																	62848565		2203	4300	6503	SO:0001587	stop_gained	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848565C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1777C>T	20.37:g.62848565C>T	ENSP00000327465:p.Gln593*					MYT1_uc002yih.2_Nonsense_Mutation_p.Q295*|MYT1_uc002yij.2_Nonsense_Mutation_p.Q225*	p.Q593*	NM_004535	NP_004526	Q01538	MYT1_HUMAN			11	2141	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		593					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	ENST00000328439.1	37	c.1777C>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	43	10.047296	0.99325	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-30.646	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	X	295;593;593	.	ENSP00000327465:Q593X	Q	+	1	0	MYT1	62319009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.708000	0.84633	2.677000	0.91161	0.655000	0.94253	CAG		0.522	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		58	99	0	0	0	0.00361	0	58	99				
TPTE	7179	broad.mit.edu	37	21	10944758	10944758	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:10944758T>A	ENST00000361285.4	-	11	805	c.476A>T	c.(475-477)aAc>aTc	p.N159I	TPTE_ENST00000342420.5_Missense_Mutation_p.N121I|TPTE_ENST00000298232.7_Missense_Mutation_p.N141I|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	159					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N159I(1)|p.N141I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTAAAATGTTAAATAAGTC	0.318																																							uc002yip.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(475-477)AAC>ATC		transmembrane phosphatase with tensin homology							118.0	129.0	125.0					21																	10944758		2203	4296	6499	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944758T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.476A>T	21.37:g.10944758T>A	ENSP00000355208:p.Asn159Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N141I|TPTE_uc002yir.1_Missense_Mutation_p.N121I|TPTE_uc010gkv.1_Missense_Mutation_p.N21I	p.N159I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	844	-			159					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.476A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.17	1.856140	0.32791	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99245	-5.62;-5.62;-5.62	2.31	2.31	0.28768	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99155	0.9708	M	0.83774	2.66	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.99282	1.0896	10	0.87932	D	0	-34.0326	6.5921	0.22651	0.0:0.0:0.0:1.0	.	121;141;159	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	141;159;121	ENSP00000298232:N141I;ENSP00000355208:N159I;ENSP00000344441:N121I	ENSP00000298232:N141I	N	-	2	0	TPTE	9966629	0.998000	0.40836	0.447000	0.26932	0.339000	0.28857	4.507000	0.60434	1.303000	0.44873	0.163000	0.16589	AAC		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			18	36	0	0	0	0.00499	0	18	36				
TPTE	7179	broad.mit.edu	37	21	11021212	11021212	+	Splice_Site	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:11021212C>G	ENST00000415664.2	-	3	239		c.e3-1		BAGE2_ENST00000470054.1_RNA			P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGTAGACACCTATAAAAAGC	0.299																																							uc002yit.1		NA																	0					0						c.e9-1		B melanoma antigen family, member 2 precursor																																				SO:0001630	splice_region_variant	85319							g.chr21:11021212C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.3098-1G>C	21.37:g.11021212C>G						TPTE_uc002yis.1_Splice_Site		NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	1714	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37	c.1506_splice																																																																																					0.299	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	7	54	0	0	0	0.004482	0	7	54				
USP25	29761	broad.mit.edu	37	21	17150265	17150265	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:17150265G>A	ENST00000285679.6	+	4	680	c.311G>A	c.(310-312)aGa>aAa	p.R104K	USP25_ENST00000285681.2_Missense_Mutation_p.R104K|USP25_ENST00000351097.5_Missense_Mutation_p.R104K|USP25_ENST00000400183.2_Missense_Mutation_p.R104K|USP25_ENST00000547201.1_3'UTR	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	104					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GATCTTCAGAGAGCAATTGCC	0.348																																							uc002yjy.1		NA																	0				ovary(3)|liver(2)	5						c.(310-312)AGA>AAA		ubiquitin specific peptidase 25							63.0	62.0	62.0					21																	17150265		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17150265G>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.311G>A	21.37:g.17150265G>A	ENSP00000285679:p.Arg104Lys					USP25_uc011aby.1_Missense_Mutation_p.R104K|USP25_uc002yjz.1_Missense_Mutation_p.R104K|USP25_uc010gla.1_Missense_Mutation_p.R104K	p.R104K	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	4	528	+			104			UIM 1.		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.311G>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841957	0.71488	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.29917	1.93;1.93;1.55;1.94	5.09	5.09	0.68999	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.03608	-0.345	0.58432	D	0.999994	B;D;B;D	0.63046	0.178;0.979;0.178;0.992	B;D;B;D	0.76071	0.171;0.982;0.171;0.987	T	0.35126	-0.9801	10	0.13470	T	0.59	.	18.85	0.92224	0.0:0.0:1.0:0.0	.	104;104;104;104	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	K	104	ENSP00000285681:R104K;ENSP00000285679:R104K;ENSP00000299574:R104K;ENSP00000383044:R104K	ENSP00000285679:R104K	R	+	2	0	USP25	16072136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.379000	0.97198	2.526000	0.85167	0.585000	0.79938	AGA		0.348	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			23	4	0	0	0	0.009535	0	23	4				
ADAMTS1	9510	broad.mit.edu	37	21	28214257	28214257	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:28214257G>T	ENST00000284984.3	-	3	1584	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	377	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATCACACACAGTTCCAACATC	0.453																																							uc002ymf.2		NA																	0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1129-1131)ACT>AAT		ADAM metallopeptidase with thrombospondin type 1							111.0	96.0	101.0					21																	28214257		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214257G>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1130C>A	21.37:g.28214257G>T	ENSP00000284984:p.Thr377Asn						p.T377N	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	3	1585	-		Breast(209;0.000962)	377			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1130C>A	CCDS33524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.090093|5.090093	0.94149|0.94149	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000451462|ENST00000284984;ENST00000517777	.|D;D	.|0.87029	.|-2.2;-2.2	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.|.	.|.	.|.	.|.	D|D	0.94463|0.94463	0.8218|0.8218	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.92462|0.92462	0.5978|0.5978	5|9	.|0.27785	.|T	.|0.31	.|.	19.6982|19.6982	0.96039|0.96039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|377	.|Q9UHI8	.|ATS1_HUMAN	M|N	159|377;115	.|ENSP00000284984:T377N;ENSP00000429557:T115N	.|ENSP00000284984:T377N	L|T	-|-	1|2	2|0	ADAMTS1|ADAMTS1	27136128|27136128	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.901000|0.901000	0.52897|0.52897	9.657000|9.657000	0.98554|0.98554	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.453	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			43	6	1	0	5.44703e-19	0.009718	7.88514e-19	43	6				
ADAMTS5	11096	broad.mit.edu	37	21	28305285	28305285	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:28305285C>A	ENST00000284987.5	-	5	1889	c.1768G>T	c.(1768-1770)Gcc>Tcc	p.A590S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	590	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGACGATAGGCAAACTGCACT	0.542																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1768-1770)GCC>TCC		ADAM metallopeptidase with thrombospondin type 1							144.0	102.0	116.0					21																	28305285		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28305285C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1768G>T	21.37:g.28305285C>A	ENSP00000284987:p.Ala590Ser						p.A590S	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			5	2497	-			590			TSP type-1 1.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1768G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280175	0.40294	.	.	ENSG00000154736	ENST00000284987	T	0.52526	0.66	6.03	5.1	0.69264	.	0.048271	0.85682	D	0.000000	T	0.28001	0.0690	N	0.03903	-0.33	0.54753	D	0.999989	D	0.52996	0.957	P	0.47376	0.545	T	0.16897	-1.0387	10	0.02654	T	1	.	16.1399	0.81515	0.1341:0.8659:0.0:0.0	.	590	Q9UNA0	ATS5_HUMAN	S	590	ENSP00000284987:A590S	ENSP00000284987:A590S	A	-	1	0	ADAMTS5	27227156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.487000	0.60293	2.854000	0.98071	0.655000	0.94253	GCC		0.542	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			23	1	1	0	1.96895e-08	0.00278	2.31065e-08	23	1				
MAP3K7CL	56911	broad.mit.edu	37	21	30547109	30547109	+	Missense_Mutation	SNP	G	G	C	rs149210929		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:30547109G>C	ENST00000399947.2	+	9	902	c.625G>C	c.(625-627)Gct>Cct	p.A209P	MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.A103P|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.A209P|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.A109P|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.A109P	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	209						cytosol (GO:0005829)|nucleus (GO:0005634)											GGAATTCGAGGCTCTGACGGA	0.522																																							uc002yne.2		NA																	0				ovary(2)	2						c.(625-627)GCT>CCT		chromosome 21 open reading frame 7							123.0	115.0	118.0					21																	30547109		2203	4300	6503	SO:0001583	missense	56911					cytosol|nucleus	protein binding	g.chr21:30547109G>C	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.625G>C	21.37:g.30547109G>C	ENSP00000382828:p.Ala209Pro					C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Missense_Mutation_p.A209P|C21orf7_uc010glo.2_Missense_Mutation_p.A54P|C21orf7_uc002yng.2_Missense_Mutation_p.A109P|C21orf7_uc010glp.2_RNA	p.A209P	NM_020152	NP_064537	P57077	TAK1L_HUMAN		Colorectal(56;0.248)	8	896	+			209					D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.625G>C	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417947	0.62622	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925	T;T	0.48201	0.82;0.82	4.06	4.06	0.47325	.	0.511334	0.20630	N	0.088604	T	0.52789	0.1756	N	0.22421	0.69	0.35824	D	0.824837	B;D	0.71674	0.118;0.998	B;P	0.62649	0.179;0.905	T	0.61613	-0.7027	10	0.41790	T	0.15	-11.2339	17.5379	0.87839	0.0:0.0:1.0:0.0	.	109;209	B0EVZ8;P57077	.;TAK1L_HUMAN	P	103;209;109;109;209;109;109;109;109	ENSP00000343212:A209P;ENSP00000382828:A209P	ENSP00000345777:A109P	A	+	1	0	C21orf7	29468980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.657000	0.61490	2.535000	0.85469	0.650000	0.86243	GCT		0.522	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		57	9	0	0	0	0.00361	0	57	9				
DOPEY2	9980	broad.mit.edu	37	21	37642320	37642320	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:37642320C>G	ENST00000399151.3	+	27	5582	c.5497C>G	c.(5497-5499)Cag>Gag	p.Q1833E		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1833					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAAATCACTCAGAAAATCCT	0.458																																							uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5497-5499)CAG>GAG		pad-1-like							112.0	124.0	120.0					21																	37642320		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37642320C>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5497C>G	21.37:g.37642320C>G	ENSP00000382104:p.Gln1833Glu					DOPEY2_uc011aeb.1_Missense_Mutation_p.Q1782E	p.Q1833E	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			27	5576	+			1833					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.5497C>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302245	0.81136	.	.	ENSG00000142197	ENST00000399151	T	0.64085	-0.08	5.17	5.17	0.71159	.	0.054653	0.85682	D	0.000000	T	0.79822	0.4512	M	0.81239	2.535	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.76745	-0.2846	10	0.24483	T	0.36	-1.0231	19.038	0.92986	0.0:1.0:0.0:0.0	.	1833;1833	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	E	1833	ENSP00000382104:Q1833E	ENSP00000382104:Q1833E	Q	+	1	0	DOPEY2	36564190	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.266000	0.78452	2.570000	0.86706	0.650000	0.86243	CAG		0.458	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		201	28	0	0	0	0.00361	0	201	28				
DSCAM	1826	broad.mit.edu	37	21	41446970	41446970	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:41446970G>T	ENST00000400454.1	-	27	5359	c.4882C>A	c.(4882-4884)Ctg>Atg	p.L1628M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1628					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTACCTCGCAGCCTCTTTAGC	0.607																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4882-4884)CTG>ATG		Down syndrome cell adhesion molecule isoform							56.0	72.0	67.0					21																	41446970		2119	4224	6343	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41446970G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4882C>A	21.37:g.41446970G>T	ENSP00000383303:p.Leu1628Met					DSCAM_uc002yyr.1_RNA	p.L1628M	NM_001389	NP_001380	O60469	DSCAM_HUMAN			27	5334	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1628			Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4882C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631359	0.67015	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60920	0.15;0.28	5.8	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	L	0.36672	1.1	0.41162	D	0.986101	D	0.76494	0.999	D	0.83275	0.996	T	0.66192	-0.5985	10	0.44086	T	0.13	.	15.767	0.78135	0.0757:0.0:0.9243:0.0	.	1628	O60469	DSCAM_HUMAN	M	1628;1380	ENSP00000383303:L1628M;ENSP00000385342:L1380M	ENSP00000383303:L1628M	L	-	1	2	DSCAM	40368840	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.957000	0.63652	2.744000	0.94065	0.655000	0.94253	CTG		0.607	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		28	4	1	0	8.88839e-20	0.002096	1.30327e-19	28	4				
MX2	4600	broad.mit.edu	37	21	42767649	42767649	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:42767649G>T	ENST00000330714.3	+	7	1191	c.1007G>T	c.(1006-1008)aGg>aTg	p.R336M	MX2_ENST00000496774.1_3'UTR|MX2_ENST00000543692.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	336	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATCACAAACAGGCTGAGCTTG	0.478																																							uc002yzf.1		NA																	0				ovary(2)	2						c.(1006-1008)AGG>ATG		myxovirus resistance protein 2							102.0	96.0	98.0					21																	42767649		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42767649G>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1007G>T	21.37:g.42767649G>T	ENSP00000333657:p.Arg336Met					MX2_uc011aer.1_RNA|MX2_uc002yzg.1_Missense_Mutation_p.R59M	p.R336M	NM_002463	NP_002454	P20592	MX2_HUMAN			7	1111	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	336					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1007G>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334546	0.41297	.	.	ENSG00000183486	ENST00000330714	T	0.73897	-0.79	3.5	-0.87	0.10646	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.546754	0.19049	U	0.124091	T	0.73992	0.3658	L	0.49778	1.585	0.09310	N	1	P	0.41978	0.767	P	0.53266	0.722	T	0.66662	-0.5867	10	0.87932	D	0	-10.3178	7.4777	0.27387	0.7001:0.0:0.2999:0.0	.	336	P20592	MX2_HUMAN	M	336	ENSP00000333657:R336M	ENSP00000333657:R336M	R	+	2	0	MX2	41689519	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	1.472000	0.35376	-0.196000	0.10366	-0.670000	0.03821	AGG		0.478	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		55	12	1	0	1.54043e-34	0.00361	2.64582e-34	55	12				
RRP1	8568	broad.mit.edu	37	21	45213224	45213224	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:45213224G>T	ENST00000497547.1	+	4	416	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CAGGCCTTCTGGCAGACCATG	0.602																																							uc002zds.2		NA																	0					0						c.(298-300)TGG>TTG		ribosomal RNA processing 1 homolog							105.0	108.0	107.0					21																	45213224		1996	4154	6150	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45213224G>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.299G>T	21.37:g.45213224G>T	ENSP00000417464:p.Trp100Leu					RRP1_uc011aez.1_Missense_Mutation_p.W100L|RRP1_uc010gpk.1_5'UTR|RRP1_uc010gpl.1_5'UTR	p.W100L	NM_003683	NP_003674	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	4	392	+			100					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.299G>T	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559562	0.45590	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.39787	1.06	4.38	4.38	0.52667	.	0.066614	0.64402	D	0.000006	T	0.31765	0.0807	L	0.27053	0.805	0.47065	D	0.999307	B;P	0.34757	0.235;0.467	B;B	0.33620	0.103;0.167	T	0.31503	-0.9941	10	0.87932	D	0	-24.3026	13.8584	0.63545	0.0:0.0:1.0:0.0	.	100;100	B4DZM3;P56182	.;RRP1_HUMAN	L	100	ENSP00000417464:W100L	ENSP00000383237:W100L	W	+	2	0	RRP1	44037652	1.000000	0.71417	0.980000	0.43619	0.898000	0.52572	4.588000	0.60999	1.989000	0.58080	0.511000	0.50034	TGG		0.602	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		154	31	1	0	1.03023e-69	0.00361	1.92508e-69	154	31				
TSPEAR	54084	broad.mit.edu	37	21	45929249	45929249	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr21:45929249C>A	ENST00000323084.4	-	10	1652	c.1587G>T	c.(1585-1587)tgG>tgT	p.W529C	TSPEAR-AS1_ENST00000430181.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.W461C|TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	529					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGAAGACCTCCCAGTCTGCAG	0.592																																							uc002zfe.1		NA																	0					0						c.(1585-1587)TGG>TGT		chromosome 21 open reading frame 29 precursor							109.0	78.0	88.0					21																	45929249		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45929249C>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1587G>T	21.37:g.45929249C>A	ENSP00000321987:p.Trp529Cys					C21orf29_uc010gpv.1_Missense_Mutation_p.W461C	p.W529C	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			10	1653	-			529			EAR 5.			Missense_Mutation	SNP	ENST00000323084.4	37	c.1587G>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096354	0.76870	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.79352	-1.26;-1.26	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	D	0.88284	0.6395	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90439	0.4430	10	0.72032	D	0.01	-36.7873	17.0238	0.86440	0.0:1.0:0.0:0.0	.	529	Q8WU66	TSEAR_HUMAN	C	529;382;461;530	ENSP00000321987:W529C;ENSP00000381012:W461C	ENSP00000321987:W529C	W	-	3	0	TSPEAR	44753677	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.060000	0.76692	2.164000	0.68074	0.558000	0.71614	TGG		0.592	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		35	4	1	0	8.69298e-16	0.006999	1.1873e-15	35	4				
POTEH	23784	broad.mit.edu	37	22	16287400	16287400	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:16287400G>T	ENST00000343518.6	-	1	537	c.486C>A	c.(484-486)gaC>gaA	p.D162E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGAAAGCGCTGTCGTCGTAGT	0.592																																							uc010gqp.2		NA																	0				skin(1)	1						c.(484-486)GAC>GAA		ANKRD26-like family C, member 3							111.0	121.0	117.0					22																	16287400		2028	3879	5907	SO:0001583	missense	23784							g.chr22:16287400G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.486C>A	22.37:g.16287400G>T	ENSP00000340610:p.Asp162Glu					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR	p.D162E	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	538	-			162					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.486C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.176	1.022452	0.19433	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.24723	1.84	0.554	-1.11	0.09840	.	.	.	.	.	T	0.18551	0.0445	L	0.53249	1.67	0.09310	N	1	B	0.33000	0.393	B	0.27500	0.08	T	0.14839	-1.0458	8	0.39692	T	0.17	.	.	.	.	.	162	Q6S545	POTEH_HUMAN	E	125;162;162	ENSP00000340610:D162E	ENSP00000340610:D162E	D	-	3	2	POTEH	14667400	0.001000	0.12720	0.001000	0.08648	0.054000	0.15201	0.497000	0.22514	-0.398000	0.07679	0.152000	0.16155	GAC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		87	147	1	0	1.96202e-32	0.00361	3.32272e-32	87	147				
CLTCL1	8218	broad.mit.edu	37	22	19203652	19203652	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:19203652C>A	ENST00000263200.10	-	19	3106	c.3034G>T	c.(3034-3036)Gtt>Ttt	p.V1012F	CLTCL1_ENST00000353891.5_Missense_Mutation_p.V1012F|CLTCL1_ENST00000427926.1_Missense_Mutation_p.V1012F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1012	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTATCCAGAACTATCTTCTCC	0.473			T	?	ALCL																																		uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(3034-3036)GTT>TTT		clathrin, heavy polypeptide-like 1 isoform 1							71.0	73.0	72.0					22																	19203652		2007	4161	6168	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19203652C>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3034G>T	22.37:g.19203652C>A	ENSP00000445677:p.Val1012Phe					CLTCL1_uc011agv.1_Missense_Mutation_p.V1012F|CLTCL1_uc011agw.1_Missense_Mutation_p.V1012F|CLTCL1_uc002zpe.2_5'Flank|CLTCL1_uc002zpd.1_5'Flank	p.V1012F	NM_007098	NP_009029	P53675	CLH2_HUMAN			19	3109	-	Colorectal(54;0.0993)		1012			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3034G>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061015	0.76074	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22336	1.96;1.96;1.96	3.4	2.34	0.29019	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000007	T	0.53142	0.1778	M	0.92738	3.34	0.58432	D	0.999999	D;D	0.89917	0.986;1.0	D;D	0.97110	0.983;1.0	T	0.64980	-0.6279	10	0.87932	D	0	-13.5111	12.6901	0.56970	0.0:0.8323:0.1677:0.0	.	1012;1012	P53675-2;P53675	.;CLH2_HUMAN	F	1012	ENSP00000439662:V1012F;ENSP00000445677:V1012F;ENSP00000441158:V1012F	ENSP00000445677:V1012F	V	-	1	0	CLTCL1	17583652	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.271000	0.65553	0.730000	0.32425	0.563000	0.77884	GTT		0.473	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		52	3	1	0	1.17673e-23	0.00361	1.83089e-23	52	3				
AIFM3	150209	broad.mit.edu	37	22	21329084	21329084	+	Nonsense_Mutation	SNP	C	C	A	rs138399322		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:21329084C>A	ENST00000399167.2	+	8	939	c.699C>A	c.(697-699)taC>taA	p.Y233*	AIFM3_ENST00000335375.5_Nonsense_Mutation_p.Y221*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.Y233*|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.Y233*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.Y239*|AIFM3_ENST00000440238.2_Nonsense_Mutation_p.Y233*	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	233					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACCTTCCCTACGACCGTCCCA	0.627																																							uc002ztj.2		NA																	0				ovary(2)|lung(2)	4						c.(697-699)TAC>TAA		apoptosis-inducing factor,							54.0	50.0	51.0					22																	21329084		2203	4300	6503	SO:0001587	stop_gained	150209				activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding	g.chr22:21329084C>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.699C>A	22.37:g.21329084C>A	ENSP00000382120:p.Tyr233*					AIFM3_uc002ztk.2_Nonsense_Mutation_p.Y233*|AIFM3_uc002ztl.2_Nonsense_Mutation_p.Y239*|AIFM3_uc011ahx.1_Nonsense_Mutation_p.Y221*|AIFM3_uc002ztm.1_Nonsense_Mutation_p.Y45*	p.Y233*	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	917	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	233					B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Nonsense_Mutation	SNP	ENST00000399167.2	37	c.699C>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	36	5.891215	0.97074	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	.	.	.	5.39	-2.64	0.06114	.	0.147692	0.48286	D	0.000195	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1067	12.3921	0.55364	0.0:0.6256:0.0:0.3744	.	.	.	.	X	233;233;233;239;221;233;233	.	ENSP00000327671:Y233X	Y	+	3	2	AIFM3	19659084	0.007000	0.16637	0.989000	0.46669	0.966000	0.64601	-1.184000	0.03076	-0.537000	0.06290	-0.415000	0.06103	TAC		0.627	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		148	4	1	0	5.24422e-81	0.00361	9.87567e-81	148	4				
GNAZ	2781	broad.mit.edu	37	22	23438545	23438545	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:23438545C>A	ENST00000248996.4	+	2	1329	c.663C>A	c.(661-663)gcC>gcA	p.A221A	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	221					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCGTCACAGCCATCATCTTCT	0.557																																							uc002zwu.1		NA																	0				kidney(1)|skin(1)	2						c.(661-663)GCC>GCA		guanine nucleotide binding protein, alpha z							201.0	220.0	214.0					22																	23438545		2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438545C>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.663C>A	22.37:g.23438545C>A						RTDR1_uc002zwt.2_Intron	p.A221A	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1200	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		221					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.663C>A	CCDS13804.1																																																																																				0.557	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		405	29	1	0	4.57064e-181	0.00361	8.6663e-181	405	29				
MYO18B	84700	broad.mit.edu	37	22	26294316	26294316	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26294316G>T	ENST00000407587.2	+	29	4883	c.4714G>T	c.(4714-4716)Gct>Tct	p.A1572S	CTA-125H2.2_ENST00000595093.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1571S|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.A1571S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1571	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAGAAGATGGCTCACCAACT	0.488																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4711-4713)GCT>TCT		myosin XVIIIB							114.0	117.0	116.0					22																	26294316		2006	4177	6183	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26294316G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4714G>T	22.37:g.26294316G>T	ENSP00000386096:p.Ala1572Ser					MYO18B_uc003aca.1_Missense_Mutation_p.A1452S|MYO18B_uc010guy.1_Missense_Mutation_p.A1453S|MYO18B_uc010guz.1_Missense_Mutation_p.A1451S|MYO18B_uc011aka.1_Missense_Mutation_p.A725S|MYO18B_uc011akb.1_Missense_Mutation_p.A1084S	p.A1571S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			29	4961	+			1571			Potential.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4711G>T		.	.	.	.	.	.	.	.	.	.	G	12.31	1.899187	0.33535	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.86562	-2.14;-2.14;-1.41	5.9	4.81	0.61882	.	0.311269	0.29100	N	0.013144	D	0.85932	0.5812	L	0.55103	1.725	0.09310	N	1	P;P;P;P	0.48998	0.793;0.866;0.897;0.918	P;B;B;P	0.44732	0.459;0.27;0.432;0.459	T	0.80750	-0.1243	10	0.46703	T	0.11	.	15.3876	0.74714	0.0:0.0:0.8514:0.1486	.	1084;1571;1572;1571	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	S	1571;1571;1572	ENSP00000441229:A1571S;ENSP00000334563:A1571S;ENSP00000386096:A1572S	ENSP00000334563:A1571S	A	+	1	0	MYO18B	24624316	0.973000	0.33851	0.025000	0.17156	0.077000	0.17291	2.982000	0.49337	2.797000	0.96272	0.655000	0.94253	GCT		0.488	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		104	8	1	0	2.97704e-61	0.00361	5.52552e-61	104	8				
MYO18B	84700	broad.mit.edu	37	22	26422693	26422693	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26422693G>T	ENST00000407587.2	+	43	6925	c.6756G>T	c.(6754-6756)tcG>tcT	p.S2252S	MYO18B_ENST00000536101.1_Silent_p.S2251S|MYO18B_ENST00000335473.7_Silent_p.S2251S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2251						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCCCTCTCGGAGTTCGTGG	0.607																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6751-6753)TCG>TCT		myosin XVIIIB							19.0	21.0	20.0					22																	26422693		1880	4090	5970	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422693G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6756G>T	22.37:g.26422693G>T						MYO18B_uc003aca.1_Silent_p.S2132S|MYO18B_uc010guy.1_Silent_p.S2133S|MYO18B_uc010guz.1_Silent_p.S2131S|MYO18B_uc011aka.1_Silent_p.S1405S|MYO18B_uc011akb.1_Silent_p.S1764S|MYO18B_uc010gva.1_Silent_p.S234S|MYO18B_uc010gvb.1_RNA	p.S2251S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7003	+			2251					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6753G>T		.	.	.	.	.	.	.	.	.	.	G	6.970	0.549038	0.13312	.	.	ENSG00000133454	ENST00000543971	.	.	.	4.77	-9.55	0.00569	.	.	.	.	.	T	0.32224	0.0822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49781	-0.8903	4	.	.	.	.	0.9207	0.01314	0.411:0.1806:0.1667:0.2417	.	.	.	.	L	201	.	.	R	+	2	0	MYO18B	24752693	0.000000	0.05858	0.052000	0.19188	0.931000	0.56810	-5.618000	0.00109	-4.016000	0.00081	-1.800000	0.00619	CGG		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		41	1	1	0	6.5261e-18	0.00874	9.28733e-18	41	1				
SEZ6L	23544	broad.mit.edu	37	22	26692873	26692873	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26692873C>A	ENST00000248933.6	+	4	1084	c.989C>A	c.(988-990)tCc>tAc	p.S330Y	SEZ6L_ENST00000403121.1_Missense_Mutation_p.S103Y|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S103Y|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S330Y|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S330Y|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S330Y|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S330Y			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	330	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTGAACCTGTCCGATGGGGAA	0.577																																							uc003acb.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(988-990)TCC>TAC		seizure related 6 homolog (mouse)-like							56.0	43.0	48.0					22																	26692873		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26692873C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.989C>A	22.37:g.26692873C>A	ENSP00000248933:p.Ser330Tyr					SEZ6L_uc003acc.2_Missense_Mutation_p.S330Y|SEZ6L_uc011akc.1_Missense_Mutation_p.S330Y|SEZ6L_uc003acd.2_Missense_Mutation_p.S330Y|SEZ6L_uc011akd.1_Missense_Mutation_p.S330Y|SEZ6L_uc003ace.2_Missense_Mutation_p.S330Y|SEZ6L_uc003acf.1_Missense_Mutation_p.S103Y|SEZ6L_uc010gvc.1_Missense_Mutation_p.S103Y	p.S330Y	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			4	1145	+			330			CUB 1.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.989C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365750	0.41902	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.13	5.13	0.70059	CUB (5);	0.000000	0.53938	D	0.000058	T	0.75620	0.3874	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.998;0.999;0.999	T	0.77392	-0.2605	10	0.54805	T	0.06	.	17.5693	0.87930	0.0:1.0:0.0:0.0	.	330;330;103;330;330;330;330	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	Y	330;330;330;330;330;103;103	ENSP00000384772:S330Y;ENSP00000437037:S330Y;ENSP00000354185:S330Y;ENSP00000248933:S330Y;ENSP00000342661:S330Y;ENSP00000384838:S103Y;ENSP00000384733:S103Y	ENSP00000248933:S330Y	S	+	2	0	SEZ6L	25022873	1.000000	0.71417	0.925000	0.36789	0.159000	0.22180	7.308000	0.78929	2.377000	0.81083	0.563000	0.77884	TCC		0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			40	4	1	0	8.16277e-20	0.006999	1.19869e-19	40	4				
SEZ6L	23544	broad.mit.edu	37	22	26706660	26706660	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26706660C>T	ENST00000248933.6	+	7	1634	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	SEZ6L_ENST00000403121.1_Silent_p.T286T|SEZ6L_ENST00000402979.1_Silent_p.T286T|SEZ6L_ENST00000404234.3_Silent_p.T513T|SEZ6L_ENST00000343706.4_Silent_p.T513T|SEZ6L_ENST00000360929.3_Silent_p.T513T|SEZ6L_ENST00000529632.2_Silent_p.T513T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	513	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCGGGCAGACCAACAAGTCAG	0.572																																							uc003acb.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1537-1539)ACC>ACT		seizure related 6 homolog (mouse)-like							158.0	119.0	132.0					22																	26706660		2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26706660C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1539C>T	22.37:g.26706660C>T						SEZ6L_uc003acc.2_Silent_p.T513T|SEZ6L_uc011akc.1_Silent_p.T513T|SEZ6L_uc003acd.2_Silent_p.T513T|SEZ6L_uc011akd.1_Silent_p.T513T|SEZ6L_uc003ace.2_Silent_p.T513T|SEZ6L_uc003acf.1_Silent_p.T286T|SEZ6L_uc010gvc.1_Silent_p.T286T	p.T513T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			7	1695	+			513			CUB 2.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.1539C>T	CCDS13833.1																																																																																				0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			133	9	0	0	0	0.00361	0	133	9				
SEZ6L	23544	broad.mit.edu	37	22	26747053	26747053	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26747053T>A	ENST00000248933.6	+	12	2538	c.2443T>A	c.(2443-2445)Tcg>Acg	p.S815T	SEZ6L_ENST00000403121.1_Missense_Mutation_p.S588T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S588T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S815T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S815T|SEZ6L_ENST00000411842.2_Missense_Mutation_p.S12T|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S815T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	815	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGTGGATCACTCGACCCGCTT	0.542																																							uc003acb.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2443-2445)TCG>ACG		seizure related 6 homolog (mouse)-like							109.0	96.0	100.0					22																	26747053		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26747053T>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2443T>A	22.37:g.26747053T>A	ENSP00000248933:p.Ser815Thr					SEZ6L_uc003acc.2_Missense_Mutation_p.S815T|SEZ6L_uc011akc.1_Missense_Mutation_p.S815T|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.S815T|SEZ6L_uc003ace.2_Missense_Mutation_p.S815T|SEZ6L_uc003acf.1_Missense_Mutation_p.S588T|SEZ6L_uc010gvc.1_Missense_Mutation_p.S588T|SEZ6L_uc011ake.1_RNA	p.S815T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			12	2599	+			815			Sushi 4.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2443T>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	t	12.76	2.035400	0.35893	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.48767	D	0.000161	T	0.62122	0.2402	M	0.72118	2.19	0.47308	D	0.999381	B;B;B;B;B;B	0.18741	0.017;0.005;0.014;0.03;0.01;0.021	B;B;B;B;B;B	0.24269	0.022;0.033;0.052;0.02;0.024;0.033	T	0.62746	-0.6789	10	0.46703	T	0.11	.	13.2522	0.60057	0.0:0.0:0.0:1.0	.	815;815;588;815;815;815	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	T	815;815;815;815;588;588;12	ENSP00000384772:S815T;ENSP00000437037:S815T;ENSP00000248933:S815T;ENSP00000342661:S815T;ENSP00000384838:S588T;ENSP00000384733:S588T;ENSP00000397274:S12T	ENSP00000248933:S815T	S	+	1	0	SEZ6L	25077053	1.000000	0.71417	0.995000	0.50966	0.422000	0.31414	2.062000	0.41413	1.929000	0.55896	0.441000	0.28932	TCG		0.542	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			8	159	0	0	0	0.006214	0	8	159				
SRRD	402055	broad.mit.edu	37	22	26887615	26887615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26887615G>T	ENST00000215917.7	+	7	1011	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	333					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAACAAGAGAGAAGATCCTTC	0.468																																							uc010gve.2		NA																	0					0						c.(997-999)GAA>TAA		SRR1 domain containing							55.0	53.0	54.0					22																	26887615		1952	4152	6104	SO:0001587	stop_gained	402055				rhythmic process			g.chr22:26887615G>T	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.997G>T	22.37:g.26887615G>T	ENSP00000215917:p.Glu333*					SRRD_uc003acp.3_Nonsense_Mutation_p.E326*|uc003acu.1_5'Flank	p.E333*	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN			7	1004	+			333					Q6NXP8	Nonsense_Mutation	SNP	ENST00000215917.7	37	c.997G>T	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178125	0.38511	.	.	ENSG00000100104	ENST00000215917	.	.	.	4.86	-6.51	0.01878	.	2.882770	0.00990	N	0.003500	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	5.967	1.569	0.02611	0.3946:0.2345:0.2515:0.1194	.	.	.	.	X	333	.	ENSP00000215917:E333X	E	+	1	0	SRRD	25217615	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.655000	0.24933	-1.258000	0.02471	-0.282000	0.10007	GAA		0.468	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		9	58	1	0	2.74318e-10	0.006214	3.35779e-10	9	58				
TPST2	8459	broad.mit.edu	37	22	26936942	26936942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:26936942C>A	ENST00000338754.4	-	3	925	c.655G>T	c.(655-657)Gag>Tag	p.E219*	TPST2_ENST00000398110.2_Nonsense_Mutation_p.E219*|TPST2_ENST00000403880.1_Nonsense_Mutation_p.E219*	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	219					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TACATCACCTCGATGGCCTTG	0.597																																							uc003acv.2		NA																	0				central_nervous_system(1)	1						c.(655-657)GAG>TAG		tyrosylprotein sulfotransferase 2							95.0	78.0	84.0					22																	26936942		2203	4300	6503	SO:0001587	stop_gained	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26936942C>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.655G>T	22.37:g.26936942C>A	ENSP00000339813:p.Glu219*					TPST2_uc003acw.2_Nonsense_Mutation_p.E219*|TPST2_uc003acx.2_Nonsense_Mutation_p.E219*|TPST2_uc011akf.1_Nonsense_Mutation_p.E219*	p.E219*	NM_003595	NP_003586	O60704	TPST2_HUMAN			2	823	-			219			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Nonsense_Mutation	SNP	ENST00000338754.4	37	c.655G>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	C	41	8.901644	0.98996	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868	.	.	.	5.01	5.01	0.66863	.	0.074253	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-41.3911	17.3291	0.87258	0.0:1.0:0.0:0.0	.	.	.	.	X	219;219;219;152	.	ENSP00000339813:E219X	E	-	1	0	TPST2	25266942	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.206000	0.77891	2.327000	0.79052	0.609000	0.83330	GAG		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		19	62	1	0	1.01871e-10	0.008871	1.2557e-10	19	62				
MN1	4330	broad.mit.edu	37	22	28192875	28192875	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:28192875C>A	ENST00000302326.4	-	1	4611	c.3657G>T	c.(3655-3657)ctG>ctT	p.L1219L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1219					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCTCTGCCATCAGCGAGTCCA	0.667			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3655-3657)CTG>CTT		meningioma  1							59.0	63.0	62.0					22																	28192875		2163	4263	6426	SO:0001819	synonymous_variant	4330						binding	g.chr22:28192875C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3657G>T	22.37:g.28192875C>A							p.L1219L	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	4612	-			1219					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3657G>T	CCDS42998.1																																																																																				0.667	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		100	8	1	0	5.78178e-49	0.00361	1.05094e-48	100	8				
MN1	4330	broad.mit.edu	37	22	28193258	28193258	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:28193258C>A	ENST00000302326.4	-	1	4228	c.3274G>T	c.(3274-3276)Ggg>Tgg	p.G1092W		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1092					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCGTGTTCCCCGGCGCCTACC	0.697			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3274-3276)GGG>TGG		meningioma  1							12.0	14.0	13.0					22																	28193258		1897	4093	5990	SO:0001583	missense	4330						binding	g.chr22:28193258C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3274G>T	22.37:g.28193258C>A	ENSP00000304956:p.Gly1092Trp						p.G1092W	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	4229	-			1092					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3274G>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943777	0.53079	.	.	ENSG00000169184	ENST00000302326	T	0.51071	0.72	4.34	4.34	0.51931	.	0.061470	0.64402	D	0.000004	T	0.51024	0.1650	N	0.24115	0.695	0.24931	N	0.991913	D	0.76494	0.999	D	0.64506	0.926	T	0.44513	-0.9323	10	0.87932	D	0	-11.585	12.3399	0.55089	0.0:0.8284:0.1716:0.0	.	1092	Q10571	MN1_HUMAN	W	1092	ENSP00000304956:G1092W	ENSP00000304956:G1092W	G	-	1	0	MN1	26523258	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	2.118000	0.41949	2.242000	0.73789	0.462000	0.41574	GGG		0.697	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		27	1	1	0	3.6726e-16	0.003954	5.03746e-16	27	1				
CCDC117	150275	broad.mit.edu	37	22	29182289	29182289	+	Missense_Mutation	SNP	G	G	T	rs9613680	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:29182289G>T	ENST00000249064.4	+	5	991	c.815G>T	c.(814-816)aGc>aTc	p.S272I	CCDC117_ENST00000421503.2_Missense_Mutation_p.S197I|CCDC117_ENST00000448492.2_Missense_Mutation_p.S254I|CCDC117_ENST00000443309.2_Missense_Mutation_p.S140I	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	272			S -> N (in dbSNP:rs9613680).							breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						ACAGCTACTAGCACAGAAGAA	0.418																																							uc003aeb.2		NA																	0				breast(1)	1						c.(814-816)AGC>ATC		coiled-coil domain containing 117							67.0	67.0	67.0					22																	29182289		2203	4300	6503	SO:0001583	missense	150275							g.chr22:29182289G>T	AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.815G>T	22.37:g.29182289G>T	ENSP00000249064:p.Ser272Ile					CCDC117_uc011aki.1_Missense_Mutation_p.S254I|CCDC117_uc011akj.1_Missense_Mutation_p.S197I|CCDC117_uc011akk.1_Missense_Mutation_p.S140I	p.S272I	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN			5	991	+			272					A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	37	c.815G>T	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283032	0.40394	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309	T;T;T;T	0.34859	1.34;1.37;1.34;1.38	5.94	2.68	0.31781	.	0.456739	0.25720	N	0.028757	T	0.20333	0.0489	N	0.14661	0.345	0.32117	N	0.588496	B;B;B	0.26258	0.145;0.145;0.145	B;B;B	0.24541	0.054;0.054;0.054	T	0.13602	-1.0503	10	0.62326	D	0.03	.	8.1829	0.31322	0.3141:0.0:0.6859:0.0	.	197;254;272	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	I	272;254;197;140	ENSP00000249064:S272I;ENSP00000389478:S254I;ENSP00000387827:S197I;ENSP00000399363:S140I	ENSP00000249064:S272I	S	+	2	0	CCDC117	27512289	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.873000	0.39558	0.373000	0.24621	-0.291000	0.09656	AGC		0.418	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510		62	9	1	0	1.1362e-29	0.00361	1.8878e-29	62	9				
RFPL1	5988	broad.mit.edu	37	22	29834927	29834927	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:29834927A>C	ENST00000354373.2	+	1	356	c.147A>C	c.(145-147)aaA>aaC	p.K49N	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	49							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ATCTAGAGAAACCAATGTCCC	0.512																																							uc003afn.2		NA																	0					0						c.(145-147)AAA>AAC		ret finger protein-like 1							114.0	107.0	109.0					22																	29834927		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29834927A>C	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.147A>C	22.37:g.29834927A>C	ENSP00000346342:p.Lys49Asn					RFPL1S_uc003afm.1_RNA	p.K49N	NM_021026	NP_066306	O75677	RFPL1_HUMAN			1	356	+			49			RING-type.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.147A>C	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	4.056	0.008180	0.07912	.	.	ENSG00000128250	ENST00000354373	T	0.15952	2.38	1.52	-3.03	0.05429	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.08268	0.0206	N	0.17278	0.47	0.09310	N	1	B	0.24576	0.106	B	0.30401	0.115	T	0.41945	-0.9480	9	0.17832	T	0.49	.	3.6573	0.08225	0.2285:0.4412:0.3302:0.0	.	49	O75677	RFPL1_HUMAN	N	49	ENSP00000346342:K49N	ENSP00000346342:K49N	K	+	3	2	RFPL1	28164927	0.259000	0.24043	0.001000	0.08648	0.049000	0.14656	-0.952000	0.03881	-1.111000	0.02988	-0.519000	0.04390	AAA		0.512	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		69	11	0	0	0	0.00361	0	69	11				
TBC1D10A	83874	broad.mit.edu	37	22	30688566	30688566	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:30688566C>A	ENST00000215790.7	-	9	1489	c.1325G>T	c.(1324-1326)aGa>aTa	p.R442I	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R354I|RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000407689.3_5'Flank|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R449I|GATSL3_ENST00000404953.3_5'Flank	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	442					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGCTGCCCTCTCCCCTTCAT	0.647																																							uc011akt.1		NA																	0				ovary(1)	1						c.(1324-1326)AGA>ATA		TBC1 domain family, member 10A							74.0	75.0	74.0					22																	30688566		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688566C>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1325G>T	22.37:g.30688566C>A	ENSP00000215790:p.Arg442Ile					GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R354I|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R449I|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R442I	p.R442I	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			11	1349	-			442					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1325G>T	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127170	0.20959	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.05139	3.49;3.49;3.49	5.18	4.14	0.48551	.	0.597033	0.18508	N	0.139147	T	0.05686	0.0149	N	0.22421	0.69	0.24874	N	0.992266	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24728	-1.0152	10	0.48119	T	0.1	.	13.5195	0.61559	0.0:0.9182:0.0:0.0818	.	442;449;442	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	I	442;449;354	ENSP00000215790:R442I;ENSP00000384996:R449I;ENSP00000385050:R354I	ENSP00000215790:R442I	R	-	2	0	TBC1D10A	29018566	0.047000	0.20315	0.229000	0.23960	0.114000	0.19823	1.602000	0.36783	2.595000	0.87683	0.561000	0.74099	AGA		0.647	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		88	11	1	0	3.90494e-43	0.00361	6.97982e-43	88	11				
APOL3	80833	broad.mit.edu	37	22	36556832	36556832	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:36556832T>C	ENST00000349314.2	-	1	145	c.108A>G	c.(106-108)atA>atG	p.I36M	APOL3_ENST00000424878.2_Intron|APOL3_ENST00000397293.2_De_novo_Start_OutOfFrame|APOL3_ENST00000397287.2_De_novo_Start_InFrame|APOL3_ENST00000361710.2_De_novo_Start_InFrame	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	36					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GGCTCTGAGATATACCCTGGA	0.517																																							uc003aot.2		NA																	0					0						c.(106-108)ATA>ATG		apolipoprotein L3 isoform 1							131.0	106.0	115.0					22																	36556832		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36556832T>C	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.108A>G	22.37:g.36556832T>C	ENSP00000344577:p.Ile36Met					APOL3_uc003aoq.2_Translation_Start_Site|APOL3_uc003aor.2_Translation_Start_Site|APOL3_uc003aos.2_Translation_Start_Site|APOL3_uc003aou.2_Translation_Start_Site|APOL3_uc003aov.2_Translation_Start_Site	p.I36M	NM_145640	NP_663615	O95236	APOL3_HUMAN			1	146	-			36					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.108A>G	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	T	6.903	0.536157	0.13188	.	.	ENSG00000128284	ENST00000349314	T	0.04809	3.55	2.62	-1.31	0.09230	.	2.641770	0.03910	U	0.281802	T	0.02688	0.0081	N	0.08118	0	0.09310	N	0.999998	P	0.34724	0.465	B	0.30646	0.118	T	0.36407	-0.9749	10	0.87932	D	0	.	4.0323	0.09714	0.0:0.1359:0.4313:0.4327	.	36	O95236	APOL3_HUMAN	M	36	ENSP00000344577:I36M	ENSP00000344577:I36M	I	-	3	3	APOL3	34886778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.782000	0.04643	-0.379000	0.07906	0.491000	0.48974	ATA		0.517	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		40	8	0	0	0	0.007835	0	40	8				
CSF2RB	1439	broad.mit.edu	37	22	37334022	37334022	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:37334022G>T	ENST00000403662.3	+	14	2394	c.2172G>T	c.(2170-2172)ggG>ggT	p.G724G	CSF2RB_ENST00000262825.5_Silent_p.G730G|CSF2RB_ENST00000406230.1_Silent_p.G730G|CSF2RB_ENST00000536485.1_Silent_p.G671G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	724					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAAACTCAGGGGCCTCGTCTG	0.632																																							uc003aqa.3		NA																	0				skin(2)|pancreas(1)	3						c.(2170-2172)GGG>GGT		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						77.0	87.0	83.0					22																	37334022		2203	4300	6503	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37334022G>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2172G>T	22.37:g.37334022G>T						CSF2RB_uc003aqc.3_Silent_p.G730G	p.G724G	NM_000395	NP_000386	P32927	IL3RB_HUMAN			14	2389	+			724			Cytoplasmic (Potential).		Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.2172G>T	CCDS13936.1																																																																																				0.632	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		83	18	1	0	5.01286e-43	0.00361	8.95186e-43	83	18				
TST	7263	broad.mit.edu	37	22	37407135	37407135	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:37407135C>A	ENST00000403892.3	-	2	1561	c.827G>T	c.(826-828)tGg>tTg	p.W276L	Y_RNA_ENST00000516603.1_RNA|TST_ENST00000249042.3_Missense_Mutation_p.W276L	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	276	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CCACTCGGACCAGGAGCCATC	0.642																																							uc003aqg.2		NA																	0					0						c.(826-828)TGG>TTG		thiosulfate sulfurtransferase							53.0	52.0	52.0					22																	37407135		2203	4300	6503	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407135C>A	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.827G>T	22.37:g.37407135C>A	ENSP00000385828:p.Trp276Leu					TST_uc003aqh.2_Missense_Mutation_p.W276L	p.W276L	NM_003312	NP_003303	Q16762	THTR_HUMAN			2	1527	-			276			Rhodanese 2.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.827G>T	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918378	0.92249	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.22134	1.97;1.97	5.08	5.08	0.68730	Rhodanese-like (5);Thiosulphate sulfurtransferase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75752	-0.3207	10	0.87932	D	0	-6.4768	18.6721	0.91516	0.0:1.0:0.0:0.0	.	276	Q16762	THTR_HUMAN	L	276;276;223	ENSP00000385828:W276L;ENSP00000249042:W276L	ENSP00000249042:W276L	W	-	2	0	TST	35737081	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.123000	0.77176	2.636000	0.89361	0.655000	0.94253	TGG		0.642	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			22	37	1	0	0.000295444	0.002299	0.000312234	22	37				
PLA2G6	8398	broad.mit.edu	37	22	38524306	38524306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:38524306G>A	ENST00000332509.3	-	9	1501	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	PLA2G6_ENST00000402064.1_Intron|PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000335539.3_Intron	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	440					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGTGGGGGCTGAGCTCTTTCC	0.652																																							uc003auy.1		NA																	0				ovary(1)	1						c.(1318-1320)CAG>TAG		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						105.0	98.0	101.0					22																	38524306		2203	4300	6503	SO:0001587	stop_gained	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38524306G>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1318C>T	22.37:g.38524306G>A	ENSP00000333142:p.Gln440*					PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Nonsense_Mutation_p.Q440*|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Nonsense_Mutation_p.Q405*	p.Q440*	NM_003560	NP_003551	O60733	PA2G6_HUMAN			9	1454	-	Melanoma(58;0.045)		440					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Nonsense_Mutation	SNP	ENST00000332509.3	37	c.1318C>T	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361535	0.95877	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335538;ENST00000396860;ENST00000451461	.	.	.	4.78	4.78	0.61160	.	1.823740	0.02519	N	0.092308	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-11.5792	10.9476	0.47310	0.0872:0.0:0.9128:0.0	.	.	.	.	X	440;301;368;440;405	.	ENSP00000333142:Q440X	Q	-	1	0	PLA2G6	36854252	0.997000	0.39634	0.999000	0.59377	0.967000	0.64934	2.572000	0.45999	2.373000	0.80994	0.563000	0.77884	CAG		0.652	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		14	18	0	0	0	0.003163	0	14	18				
TOMM22	56993	broad.mit.edu	37	22	39079772	39079772	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:39079772A>G	ENST00000216034.4	+	4	386	c.355A>G	c.(355-357)Ata>Gta	p.I119V	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	119					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					TCTTTTCCAGATACTTCTAGG	0.463																																							uc003awe.2		NA																	0					0						c.(355-357)ATA>GTA		mitochondrial import receptor Tom22							138.0	127.0	130.0					22																	39079772		2203	4300	6503	SO:0001630	splice_region_variant	56993				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity	g.chr22:39079772A>G	AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.355-1A>G	22.37:g.39079772A>G						uc003awd.2_5'Flank	p.I119V	NM_020243	NP_064628	Q9NS69	TOM22_HUMAN			4	385	+	Melanoma(58;0.04)		119			Mitochondrial intermembrane (Potential).			Missense_Mutation	SNP	ENST00000216034.4	37	c.355A>G	CCDS13975.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490496	0.44249	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.52	5.52	0.82312	.	0.045605	0.85682	D	0.000000	T	0.65386	0.2686	L	0.32530	0.975	0.80722	D	1	D	0.63046	0.992	D	0.81914	0.995	T	0.63576	-0.6606	8	.	.	.	-20.8174	14.2147	0.65786	1.0:0.0:0.0:0.0	.	119	Q9NS69	TOM22_HUMAN	V	119	.	.	I	+	1	0	TOMM22	37409718	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.582000	0.90791	2.094000	0.63399	0.460000	0.39030	ATA		0.463	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320842.1		Missense_Mutation	25	36	0	0	0	0.004656	0	25	36				
ENTHD1	150350	broad.mit.edu	37	22	40139884	40139884	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:40139884G>C	ENST00000325157.6	-	7	1874	c.1624C>G	c.(1624-1626)Cct>Gct	p.P542A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	542										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTTGCTTCAGGTTCCTGGGGG	0.438																																							uc003ayg.2		NA																	0				ovary(2)|skin(1)	3						c.(1624-1626)CCT>GCT		ENTH domain containing 1							82.0	76.0	78.0					22																	40139884		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40139884G>C	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1624C>G	22.37:g.40139884G>C	ENSP00000317431:p.Pro542Ala						p.P542A	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1875	-	Melanoma(58;0.0749)		542					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1624C>G	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	3.486	-0.104852	0.06967	.	.	ENSG00000176177	ENST00000325157	T	0.30448	1.53	5.75	0.101	0.14517	.	0.314081	0.25596	N	0.029592	T	0.24851	0.0603	L	0.57536	1.79	0.09310	N	1	B	0.24483	0.104	B	0.25140	0.058	T	0.18461	-1.0336	10	0.52906	T	0.07	-7.6947	5.1909	0.15209	0.1353:0.0:0.303:0.5616	.	542	Q8IYW4	ENTD1_HUMAN	A	542	ENSP00000317431:P542A	ENSP00000317431:P542A	P	-	1	0	ENTHD1	38469830	0.001000	0.12720	0.008000	0.14137	0.108000	0.19459	0.105000	0.15333	0.137000	0.18759	0.650000	0.86243	CCT		0.438	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		11	17	0	0	0	0.008291	0	11	17				
MPPED1	758	broad.mit.edu	37	22	43898595	43898595	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:43898595C>A	ENST00000417669.2	+	6	1264	c.820C>A	c.(820-822)Cgc>Agc	p.R274S	MPPED1_ENST00000542779.1_Missense_Mutation_p.R274S|MPPED1_ENST00000538182.1_Missense_Mutation_p.R307S|MPPED1_ENST00000443721.1_Missense_Mutation_p.R274S|MPPED1_ENST00000439548.1_Missense_Mutation_p.R116S|MPPED1_ENST00000414469.2_Missense_Mutation_p.R168S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	274							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGTGCAGAGGCGCGTCCAGCC	0.617																																							uc011apv.1		NA																	0					0						c.(820-822)CGC>AGC		metallophosphoesterase domain containing 1							81.0	94.0	90.0					22																	43898595		2189	4298	6487	SO:0001583	missense	758						hydrolase activity	g.chr22:43898595C>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.820C>A	22.37:g.43898595C>A	ENSP00000388137:p.Arg274Ser					MPPED1_uc011apw.1_Missense_Mutation_p.R168S|MPPED1_uc011apx.1_Missense_Mutation_p.R116S|MPPED1_uc011apy.1_Missense_Mutation_p.R274S|MPPED1_uc011apz.1_Missense_Mutation_p.R307S	p.R274S	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			6	1043	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	274					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.820C>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611629	0.46631	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	4.38	4.38	0.52667	Metallophosphoesterase domain (1);	.	.	.	.	T	0.64023	0.2561	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.985	T	0.67530	-0.5647	9	0.52906	T	0.07	.	12.4873	0.55881	0.1674:0.8326:0.0:0.0	.	307;274	B7Z2S9;O15442	.;MPPD1_HUMAN	S	274;274;252;168;116;274;307	ENSP00000388137:R274S;ENSP00000400686:R274S;ENSP00000388245:R168S;ENSP00000390379:R116S;ENSP00000444532:R274S;ENSP00000438335:R307S	ENSP00000388245:R168S	R	+	1	0	MPPED1	42229924	1.000000	0.71417	0.993000	0.49108	0.079000	0.17450	4.414000	0.59802	2.184000	0.69523	0.399000	0.26434	CGC		0.617	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		56	15	1	0	2.01871e-26	0.00361	3.25078e-26	56	15				
EFCAB6	64800	broad.mit.edu	37	22	44131757	44131757	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:44131757T>A	ENST00000262726.7	-	7	877	c.624A>T	c.(622-624)ttA>ttT	p.L208F	EFCAB6_ENST00000396231.2_Missense_Mutation_p.L56F|EFCAB6_ENST00000356087.4_Missense_Mutation_p.L102F|EFCAB6_ENST00000358439.4_Missense_Mutation_p.L102F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTCGTCTCTTAACTTCATAC	0.428																																							uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(622-624)TTA>TTT		CAP-binding protein complex interacting protein							148.0	138.0	142.0					22																	44131757		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44131757T>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.624A>T	22.37:g.44131757T>A	ENSP00000262726:p.Leu208Phe					EFCAB6_uc003bdz.1_Missense_Mutation_p.L56F|EFCAB6_uc010gzi.1_Missense_Mutation_p.L56F|EFCAB6_uc011aqa.1_Missense_Mutation_p.L102F|EFCAB6_uc003bea.1_Missense_Mutation_p.L205F|EFCAB6_uc003beb.3_Missense_Mutation_p.L102F	p.L208F	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			7	839	-		Ovarian(80;0.0247)|all_neural(38;0.025)	208					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.624A>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316337	0.40996	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.0	1.71	0.24356	EF-hand-like domain (1);	0.195812	0.37857	N	0.001916	T	0.29749	0.0743	L	0.29908	0.895	0.27924	N	0.938135	B;D;P;P	0.53462	0.004;0.96;0.935;0.956	B;P;P;P	0.49502	0.007;0.59;0.613;0.575	T	0.11494	-1.0585	10	0.62326	D	0.03	-27.2551	6.3803	0.21531	0.148:0.6872:0.0:0.1647	.	102;102;208;208	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	F	56;208;102;102	ENSP00000379533:L56F;ENSP00000262726:L208F;ENSP00000351219:L102F;ENSP00000348391:L102F	ENSP00000262726:L208F	L	-	3	2	EFCAB6	42463090	0.690000	0.27699	0.251000	0.24312	0.743000	0.42351	1.014000	0.29950	0.357000	0.24183	-0.669000	0.03829	TTA		0.428	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		60	12	0	0	0	0.00361	0	60	12				
FBLN1	2192	broad.mit.edu	37	22	45914600	45914600	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:45914600G>A	ENST00000327858.6	+	2	213	c.118G>A	c.(118-120)Gga>Aga	p.G40R	FBLN1_ENST00000340923.5_Missense_Mutation_p.G40R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G40R|FBLN1_ENST00000348697.2_Missense_Mutation_p.G40R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G40R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G40R	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	40	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGTGCGGACGGACACCGGAT	0.597																																							uc003bgj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(118-120)GGA>AGA		fibulin 1 isoform D							85.0	66.0	73.0					22																	45914600		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45914600G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.118G>A	22.37:g.45914600G>A	ENSP00000331544:p.Gly40Arg					FBLN1_uc003bgg.1_Missense_Mutation_p.G40R|FBLN1_uc003bgh.2_Missense_Mutation_p.G40R|FBLN1_uc010gzz.2_Missense_Mutation_p.G40R|FBLN1_uc003bgi.1_Missense_Mutation_p.G40R	p.G40R	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	265	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	40			Anaphylatoxin-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.118G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021931	0.54576	.	.	ENSG00000077942	ENST00000411478;ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000450975	T;T;T;D;T;T;T;T	0.96041	-1.23;-1.23;-1.23;-3.89;-1.23;-1.23;-1.23;-1.23	4.64	4.64	0.57946	Anaphylatoxin/fibulin (4);	0.000000	0.85682	D	0.000000	D	0.96021	0.8704	L	0.36672	1.1	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96476	0.9352	10	0.87932	D	0	.	14.529	0.67912	0.0:0.0:1.0:0.0	.	40;40;40;40	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	R	48;40;40;40;40;40;40;40;49	ENSP00000415289:G48R;ENSP00000402963:G40R;ENSP00000262723:G40R;ENSP00000385521:G40R;ENSP00000262722:G40R;ENSP00000331544:G40R;ENSP00000393812:G40R;ENSP00000342212:G40R	ENSP00000262722:G40R	G	+	1	0	FBLN1	44293264	1.000000	0.71417	0.525000	0.27900	0.029000	0.11900	4.870000	0.63035	2.414000	0.81942	0.655000	0.94253	GGA		0.597	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		3	8	0	0	0	0.009096	0	3	8				
CHL1	10752	broad.mit.edu	37	3	419519	419519	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:419519T>A	ENST00000256509.2	+	16	2412	c.1770T>A	c.(1768-1770)gcT>gcA	p.A590A	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Silent_p.A574A	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	376					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGATGGAGCTAATTTGACCA	0.338																																							uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1720-1722)GCT>GCA		cell adhesion molecule with homology to L1CAM							119.0	115.0	116.0					3																	419519		2202	4300	6502	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:419519T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1770T>A	3.37:g.419519T>A						CHL1_uc003bot.2_Silent_p.A590A|CHL1_uc003bow.1_Silent_p.A574A|CHL1_uc011asi.1_Silent_p.A590A|uc003box.1_Intron	p.A574A	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	15	1993	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	574			Ig-like C2-type 6.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.1722T>A	CCDS2556.1																																																																																				0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		42	4	0	0	0	0.00874	0	42	4				
CHL1	10752	broad.mit.edu	37	3	433372	433372	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:433372A>T	ENST00000256509.2	+	23	3448	c.2806A>T	c.(2806-2808)Act>Tct	p.T936S	CHL1_ENST00000397491.2_Missense_Mutation_p.T920S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAACAGCCAACTTTTCTAAA	0.294																																							uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2758-2760)ACT>TCT		cell adhesion molecule with homology to L1CAM							83.0	85.0	84.0					3																	433372		2203	4299	6502	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:433372A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2806A>T	3.37:g.433372A>T	ENSP00000256509:p.Thr936Ser					CHL1_uc003bot.2_Missense_Mutation_p.T936S|CHL1_uc003bow.1_Missense_Mutation_p.T920S|CHL1_uc011asi.1_Missense_Mutation_p.T936S	p.T920S	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	22	3029	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	920			Fibronectin type-III 4.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2758A>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.563|2.563	-0.301301|-0.301301	0.05495|0.05495	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|T;T	.|0.56776	.|0.44;0.44	5.62|5.62	-1.18|-1.18	0.09617|0.09617	.|Fibronectin, type III (5);Immunoglobulin-like fold (1);	.|0.593501	.|0.18078	.|N	.|0.152388	T|T	0.23094|0.23094	0.0558|0.0558	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.09022	.|0.001;0.001;0.002	.|B;B;B	.|0.10450	.|0.005;0.005;0.003	T|T	0.20874|0.20874	-1.0262|-1.0262	5|10	.|0.02654	.|T	.|1	.|.	0.9321|0.9321	0.01337|0.01337	0.3237:0.1542:0.311:0.2111|0.3237:0.1542:0.311:0.2111	.|.	.|920;920;936	.|B3KX75;O00533;O00533-2	.|.;CHL1_HUMAN;.	H|S	122|936;920	.|ENSP00000256509:T936S;ENSP00000380628:T920S	.|ENSP00000256509:T936S	Q|T	+|+	3|1	2|0	CHL1|CHL1	408372|408372	0.002000|0.002000	0.14202|0.14202	0.918000|0.918000	0.36340|0.36340	0.989000|0.989000	0.77384|0.77384	-0.395000|-0.395000	0.07287|0.07287	-0.445000|-0.445000	0.07159|0.07159	0.528000|0.528000	0.53228|0.53228	CAA|ACT		0.294	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		32	6	0	0	0	0.003271	0	32	6				
CHL1	10752	broad.mit.edu	37	3	447347	447347	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:447347G>A	ENST00000256509.2	+	28	4270	c.3628G>A	c.(3628-3630)Gtt>Att	p.V1210I	CHL1_ENST00000397491.2_Missense_Mutation_p.V1194I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAAGGGATCTGTTGAAAGCAA	0.453																																							uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(3580-3582)GTT>ATT		cell adhesion molecule with homology to L1CAM							135.0	126.0	129.0					3																	447347		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:447347G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3628G>A	3.37:g.447347G>A	ENSP00000256509:p.Val1210Ile					CHL1_uc003bot.2_Missense_Mutation_p.V1210I|CHL1_uc011asi.1_Missense_Mutation_p.V1157I	p.V1194I	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	27	3851	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1194			Cytoplasmic (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3580G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465707	0.43839	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.59502	0.26;0.27	5.72	5.72	0.89469	.	0.284392	0.29444	N	0.012126	T	0.52837	0.1759	L	0.47716	1.5	0.09310	N	1	B;B	0.32753	0.354;0.383	B;B	0.34722	0.188;0.124	T	0.55341	-0.8156	10	0.59425	D	0.04	.	13.114	0.59289	0.0731:0.0:0.9269:0.0	.	1194;1210	O00533;O00533-2	CHL1_HUMAN;.	I	1210;1194	ENSP00000256509:V1210I;ENSP00000380628:V1194I	ENSP00000256509:V1210I	V	+	1	0	CHL1	422347	0.834000	0.29399	0.105000	0.21289	0.973000	0.67179	4.015000	0.57152	2.685000	0.91497	0.655000	0.94253	GTT		0.453	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		35	7	0	0	0	0.005524	0	35	7				
GRM7	2917	broad.mit.edu	37	3	7494358	7494358	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:7494358C>T	ENST00000357716.4	+	6	1513	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	GRM7_ENST00000486284.1_Silent_p.D413D|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.D413D|GRM7_ENST00000389336.4_Silent_p.D413D|GRM7_ENST00000403881.1_Silent_p.D413D	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	413					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TCGTGATTGACGCAGTCTATG	0.493																																							uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.(1237-1239)GAC>GAT		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						129.0	109.0	116.0					3																	7494358		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7494358C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1239C>T	3.37:g.7494358C>T						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.D413D|GRM7_uc003bql.2_Silent_p.D413D|GRM7_uc003bqn.1_Translation_Start_Site|GRM7_uc010hch.1_Translation_Start_Site	p.D413D	NM_000844	NP_000835	Q14831	GRM7_HUMAN			6	1513	+			413			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.1239C>T	CCDS43042.1																																																																																				0.493	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		26	6	0	0	0	0.003954	0	26	6				
ATP2B2	491	broad.mit.edu	37	3	10392241	10392241	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:10392241C>A	ENST00000352432.4	-	14	2226	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N	ATP2B2_ENST00000383800.4_Missense_Mutation_p.K674N|ATP2B2_ENST00000360273.2_Missense_Mutation_p.K719N|ATP2B2_ENST00000397077.1_Missense_Mutation_p.K674N|ATP2B2_ENST00000343816.4_Missense_Mutation_p.K705N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	719					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCGCTGGCACTTGCGGATGG	0.647																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2155-2157)AAG>AAT		plasma membrane calcium ATPase 2 isoform 1							67.0	62.0	64.0					3																	10392241		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10392241C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2157G>T	3.37:g.10392241C>A	ENSP00000324172:p.Lys719Asn					ATP2B2_uc003bvv.2_Missense_Mutation_p.K674N|ATP2B2_uc003bvw.2_Missense_Mutation_p.K674N|ATP2B2_uc010hdo.2_Missense_Mutation_p.K424N	p.K719N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			15	2596	-			719			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.2157G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127238	0.77549	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	4.18	4.18	0.49190	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.048479	0.85682	D	0.000000	D	0.93465	0.7915	L	0.45698	1.435	0.80722	D	1	P;B;B	0.35272	0.493;0.056;0.274	B;B;B	0.36845	0.234;0.082;0.226	D	0.93862	0.7154	10	0.56958	D	0.05	-31.6513	16.8604	0.86016	0.0:1.0:0.0:0.0	.	654;686;719	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	N	719;674;674;719;705;654;575;719	ENSP00000324172:K719N;ENSP00000373311:K674N;ENSP00000380267:K674N;ENSP00000353414:K719N;ENSP00000344677:K705N;ENSP00000414854:K575N	ENSP00000342954:K719N	K	-	3	2	ATP2B2	10367241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.354000	0.52254	2.022000	0.59522	0.491000	0.48974	AAG		0.647	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		57	8	1	0	2.67592e-24	0.00361	4.20067e-24	57	8				
NUP210	23225	broad.mit.edu	37	3	13401954	13401954	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:13401954C>A	ENST00000254508.5	-	15	2052	c.1970G>T	c.(1969-1971)gGc>gTc	p.G657V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	657					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTTGAGGAGCCCAGGGTTAC	0.572																																							uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(1969-1971)GGC>GTC		nucleoporin 210 precursor							50.0	43.0	46.0					3																	13401954		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13401954C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1970G>T	3.37:g.13401954C>A	ENSP00000254508:p.Gly657Val					NUP210_uc003bxx.2_Missense_Mutation_p.G329V	p.G657V	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			15	2053	-	all_neural(104;0.187)		657			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.1970G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721008	0.89205	.	.	ENSG00000132182	ENST00000254508	T	0.21734	1.99	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.59521	-0.7439	10	0.66056	D	0.02	-30.7637	19.4017	0.94632	0.0:1.0:0.0:0.0	.	657;657	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	V	657	ENSP00000254508:G657V	ENSP00000254508:G657V	G	-	2	0	NUP210	13376954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.584000	0.87258	0.650000	0.86243	GGC		0.572	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		16	6	1	0	1.15088e-07	0.004007	1.32252e-07	16	6				
KCNH8	131096	broad.mit.edu	37	3	19479673	19479673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:19479673G>T	ENST00000328405.2	+	8	1461	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*	KCNH8_ENST00000537696.1_Nonsense_Mutation_p.G40*	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	399					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCATGAGTTGGGAAAGAGACT	0.443																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(1195-1197)GGA>TGA		potassium voltage-gated channel, subfamily H,							183.0	192.0	189.0					3																	19479673		2203	4300	6503	SO:0001587	stop_gained	131096					integral to membrane	two-component sensor activity	g.chr3:19479673G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1195G>T	3.37:g.19479673G>T	ENSP00000328813:p.Gly399*					KCNH8_uc011awe.1_Nonsense_Mutation_p.G399*|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Nonsense_Mutation_p.G30*	p.G399*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			8	1390	+			399			Extracellular (Potential).		B7Z2I7|Q59GQ6	Nonsense_Mutation	SNP	ENST00000328405.2	37	c.1195G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723853	0.98929	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	.	.	.	5.78	5.78	0.91487	.	0.000000	0.31246	U	0.007991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.017	0.97481	0.0:0.0:1.0:0.0	.	.	.	.	X	399;40	.	.	G	+	1	0	KCNH8	19454677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.761000	0.98940	2.732000	0.93576	0.555000	0.69702	GGA		0.443	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		186	32	1	0	1.2754e-92	0.00361	2.41117e-92	186	32				
NEK10	152110	broad.mit.edu	37	3	27233735	27233735	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:27233735T>A	ENST00000429845.2	-	27	2654		c.e27-2		NEK10_ENST00000498182.1_Splice_Site|NEK10_ENST00000295720.6_Splice_Site|NEK10_ENST00000383771.4_Splice_Site|NEK10_ENST00000383770.3_Splice_Site|NEK10_ENST00000357467.2_Splice_Site			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10						positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTGAGGCACCTAAGATAACAT	0.413																																							uc010hfk.2		NA																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.e5-1		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							73.0	67.0	69.0					3																	27233735		2203	4300	6503	SO:0001630	splice_region_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27233735T>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2292-2A>T	3.37:g.27233735T>A						NEK10_uc003cds.1_Splice_Site_p.R161_splice|NEK10_uc010hfj.2_Splice_Site_p.R76_splice	p.R76_splice			Q6ZWH5	NEK10_HUMAN			5	457	-								A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Splice_Site	SNP	ENST00000429845.2	37	c.228_splice		.	.	.	.	.	.	.	.	.	.	T	17.36	3.370205	0.61624	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7638	0.78110	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK10	27208739	1.000000	0.71417	0.969000	0.41365	0.684000	0.39900	4.400000	0.59709	2.254000	0.74563	0.533000	0.62120	.		0.413	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	Intron	10	19	0	0	0	0.008291	0	10	19				
TRANK1	9881	broad.mit.edu	37	3	36897117	36897117	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:36897117C>A	ENST00000429976.2	-	12	4211	c.3964G>T	c.(3964-3966)Ggg>Tgg	p.G1322W	TRANK1_ENST00000301807.6_Missense_Mutation_p.G772W|TRANK1_ENST00000428977.2_Missense_Mutation_p.G772W	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1322							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTGAGTCTCCCATGGGGACAG	0.448																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2314-2316)GGG>TGG		lupus brain antigen 1							92.0	91.0	92.0					3																	36897117		1824	4073	5897	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897117C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3964G>T	3.37:g.36897117C>A	ENSP00000416168:p.Gly1322Trp						p.G772W	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2616	-			1322					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2314G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730328	0.48939	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.39406	1.08;1.5;1.08	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	T	0.68081	0.2962	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.70637	-0.4817	10	0.72032	D	0.01	.	19.6889	0.95989	0.0:1.0:0.0:0.0	.	1322	O15050	TRNK1_HUMAN	W	772;1322;772	ENSP00000416826:G772W;ENSP00000416168:G1322W;ENSP00000301807:G772W	ENSP00000301807:G772W	G	-	1	0	TRANK1	36872121	0.999000	0.42202	0.968000	0.41197	0.498000	0.33706	6.025000	0.70864	2.735000	0.93741	0.561000	0.74099	GGG		0.448	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		107	15	1	0	2.01602e-52	0.00361	3.69572e-52	107	15				
TRANK1	9881	broad.mit.edu	37	3	36897470	36897470	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:36897470T>A	ENST00000429976.2	-	12	3858	c.3611A>T	c.(3610-3612)cAg>cTg	p.Q1204L	TRANK1_ENST00000301807.6_Missense_Mutation_p.Q654L|TRANK1_ENST00000428977.2_Missense_Mutation_p.Q654L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1204							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGAAGCAGCTGCTTGGAAGT	0.468																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1960-1962)CAG>CTG		lupus brain antigen 1							180.0	180.0	180.0					3																	36897470		1956	4153	6109	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897470T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3611A>T	3.37:g.36897470T>A	ENSP00000416168:p.Gln1204Leu						p.Q654L	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2263	-			1204					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1961A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755503	0.69648	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35789	1.29;1.7;1.29	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000028	T	0.58963	0.2159	M	0.65498	2.005	0.52501	D	0.999957	D	0.69078	0.997	D	0.78314	0.991	T	0.62950	-0.6745	10	0.87932	D	0	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	1204	O15050	TRNK1_HUMAN	L	654;1204;654	ENSP00000416826:Q654L;ENSP00000416168:Q1204L;ENSP00000301807:Q654L	ENSP00000301807:Q654L	Q	-	2	0	TRANK1	36872474	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.158000	0.71851	2.171000	0.68590	0.459000	0.35465	CAG		0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		164	19	0	0	0	0.00361	0	164	19				
LRRFIP2	9209	broad.mit.edu	37	3	37170591	37170591	+	Missense_Mutation	SNP	T	T	A	rs527627116	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:37170591T>A	ENST00000336686.4	-	3	220	c.140A>T	c.(139-141)gAt>gTt	p.D47V	LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D47V|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D47V|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D47V|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.D47V|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D47V			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	47	DVL3-binding.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CATGCGTATATCTCTTGCTTC	0.413																																							uc003cgp.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(1)	1						c.(139-141)GAT>GTT		leucine rich repeat (in FLII) interacting							164.0	165.0	164.0					3																	37170591		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37170591T>A	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.140A>T	3.37:g.37170591T>A	ENSP00000338727:p.Asp47Val					LRRFIP2_uc011ayf.1_Missense_Mutation_p.D47V|LRRFIP2_uc003cgr.2_Missense_Mutation_p.D47V|LRRFIP2_uc003cgs.3_Missense_Mutation_p.D47V|LRRFIP2_uc003cgt.3_Missense_Mutation_p.D47V	p.D47V	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN			4	563	-			47			DVL3-binding.|Potential.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.140A>T	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	35	5.421619	0.96111	.	.	ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230;ENST00000416425;ENST00000438374;ENST00000434749;ENST00000436858;ENST00000452742	T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.47	5.47	0.80525	.	0.045241	0.85682	D	0.000000	T	0.56775	0.2008	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.976;0.999	D;P;P;D	0.71656	0.974;0.714;0.843;0.974	T	0.59742	-0.7397	10	0.87932	D	0	-4.3881	15.5144	0.75812	0.0:0.0:0.0:1.0	.	47;47;47;47	A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608	.;.;.;LRRF2_HUMAN	V	47	ENSP00000392217:D47V;ENSP00000346349:D47V;ENSP00000338727:D47V;ENSP00000416364:D47V;ENSP00000379705:D47V;ENSP00000405480:D47V;ENSP00000409574:D47V;ENSP00000412206:D47V;ENSP00000416907:D47V;ENSP00000416013:D47V;ENSP00000391360:D47V	ENSP00000338727:D47V	D	-	2	0	LRRFIP2	37145595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.658000	0.83755	2.203000	0.70933	0.533000	0.62120	GAT		0.413	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		100	20	0	0	0	0.00361	0	100	20				
C3orf35	339883	broad.mit.edu	37	3	37458927	37458927	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:37458927G>T	ENST00000328376.5	+	5	1149	c.170G>T	c.(169-171)gGc>gTc	p.G57V	C3orf35_ENST00000425932.1_Missense_Mutation_p.G57V|C3orf35_ENST00000426078.1_Missense_Mutation_p.G57V|C3orf35_ENST00000425564.2_Missense_Mutation_p.G57V|C3orf35_ENST00000452017.2_Missense_Mutation_p.G57V|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	57						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GAGCAGATGGGCCTGCAGGGC	0.453																																							uc003cha.3		NA																	0				central_nervous_system(1)	1						c.(169-171)GGC>GTC		AP20 region protein isoform B							112.0	108.0	110.0					3																	37458927		1895	4110	6005	SO:0001583	missense	339883					integral to membrane		g.chr3:37458927G>T	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.170G>T	3.37:g.37458927G>T	ENSP00000331625:p.Gly57Val					C3orf35_uc003chb.2_Missense_Mutation_p.G57V	p.G57V	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN			5	834	+			57					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.170G>T	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696316	0.30052	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.59083	0.29	4.08	1.14	0.20703	.	.	.	.	.	T	0.53367	0.1792	N	0.08118	0	0.36089	D	0.843356	D;D	0.71674	0.998;0.998	P;D	0.66847	0.83;0.947	T	0.63659	-0.6587	9	0.87932	D	0	.	11.8449	0.52378	0.0:0.4651:0.5349:0.0	.	57;57	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	V	57	ENSP00000331625:G57V	ENSP00000331625:G57V	G	+	2	0	C3orf35	37433931	0.876000	0.30132	0.323000	0.25347	0.994000	0.84299	1.069000	0.30641	0.242000	0.21303	0.563000	0.77884	GGC		0.453	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		50	8	1	0	3.39706e-21	0.00361	5.12873e-21	50	8				
OXSR1	9943	broad.mit.edu	37	3	38266060	38266060	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:38266060A>G	ENST00000446845.1	+	8	1074		c.e8-1		OXSR1_ENST00000311806.3_Splice_Site					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAATTCTTGCAGGTTTTAATG	0.343																																							uc003chy.2		NA																	0				skin(1)	1						c.e8-2		oxidative-stress responsive 1							51.0	54.0	53.0					3																	38266060		2200	4297	6497	SO:0001630	splice_region_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38266060A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.703-1A>G	3.37:g.38266060A>G						OXSR1_uc010hhb.2_Splice_Site_p.V169_splice|OXSR1_uc010hha.1_Splice_Site_p.V167_splice	p.V235_splice	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	1045	+									Splice_Site	SNP	ENST00000446845.1	37	c.703_splice		.	.	.	.	.	.	.	.	.	.	A	21.0	4.076961	0.76415	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3659	0.66805	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OXSR1	38241064	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	9.094000	0.94168	2.144000	0.66660	0.482000	0.46254	.		0.343	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	Intron	41	6	0	0	0	0.009718	0	41	6				
SCN5A	6331	broad.mit.edu	37	3	38592067	38592067	+	Silent	SNP	C	C	A	rs200594132	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:38592067C>A	ENST00000333535.4	-	28	5945	c.5796G>T	c.(5794-5796)gcG>gcT	p.A1932A	SCN5A_ENST00000450102.2_Silent_p.A1878A|SCN5A_ENST00000451551.2_Silent_p.A1878A|SCN5A_ENST00000443581.1_Silent_p.A1931A|SCN5A_ENST00000413689.1_Silent_p.A1932A|SCN5A_ENST00000414099.2_Silent_p.A1914A|SCN5A_ENST00000425664.1_Silent_p.A1914A|SCN5A_ENST00000449557.2_Silent_p.A1878A|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000423572.2_Silent_p.A1931A|SCN5A_ENST00000455624.2_Silent_p.A1899A			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1932					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCGCTGCCCGCCTGCTGAC	0.622																																							uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5794-5796)GCG>GCT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						47.0	55.0	52.0					3																	38592067		2073	4187	6260	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592067C>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5796G>T	3.37:g.38592067C>A						SCN5A_uc003cin.2_Silent_p.A1931A|SCN5A_uc003cil.3_Silent_p.A1932A|SCN5A_uc010hhi.2_Silent_p.A1914A|SCN5A_uc010hhk.2_Silent_p.A1899A|SCN5A_uc011ayr.1_Silent_p.A1878A	p.A1932A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5990	-	Medulloblastoma(35;0.163)		1932					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.5796G>T	CCDS46796.1																																																																																				0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		48	12	1	0	1.00953e-15	0.003214	1.37495e-15	48	12				
SCN10A	6336	broad.mit.edu	37	3	38766770	38766770	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:38766770G>T	ENST00000449082.2	-	17	3122	c.3123C>A	c.(3121-3123)gaC>gaA	p.D1041E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1041					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTGTCAGGTGGTCCCCACACC	0.577																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(3121-3123)GAC>GAA		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						63.0	59.0	61.0					3																	38766770		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38766770G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3123C>A	3.37:g.38766770G>T	ENSP00000390600:p.Asp1041Glu						p.D1041E	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3123	-			1041					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3123C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	3.154	-0.173494	0.06421	.	.	ENSG00000185313	ENST00000449082	D	0.95272	-3.66	4.47	1.33	0.21861	Sodium ion transport-associated (1);	4.283470	0.00628	N	0.000460	D	0.87229	0.6125	N	0.08118	0	0.09310	N	1	B	0.20164	0.042	B	0.22152	0.038	T	0.78671	-0.2113	10	0.40728	T	0.16	.	3.8922	0.09123	0.1959:0.0:0.6126:0.1915	.	1041	Q9Y5Y9	SCNAA_HUMAN	E	1041	ENSP00000390600:D1041E	ENSP00000390600:D1041E	D	-	3	2	SCN10A	38741774	0.054000	0.20591	0.121000	0.21740	0.022000	0.10575	0.402000	0.20965	0.577000	0.29470	0.555000	0.69702	GAC		0.577	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		34	4	1	0	5.8336e-16	0.003271	7.97892e-16	34	4				
ZNF445	353274	broad.mit.edu	37	3	44488673	44488673	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:44488673C>A	ENST00000396077.2	-	8	2837	c.2490G>T	c.(2488-2490)gaG>gaT	p.E830D	ZNF445_ENST00000425708.2_Missense_Mutation_p.E830D	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	830					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGATTTTTGGCTCCACATTTG	0.403																																							uc003cnf.2		NA																	0				ovary(1)	1						c.(2488-2490)GAG>GAT		zinc finger protein 445							114.0	118.0	117.0					3																	44488673		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488673C>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2490G>T	3.37:g.44488673C>A	ENSP00000379387:p.Glu830Asp					ZNF445_uc011azv.1_Missense_Mutation_p.E818D|ZNF445_uc011azw.1_Missense_Mutation_p.E830D	p.E830D	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	2838	-			830					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2490G>T	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	c	2.553	-0.303657	0.05495	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05925	3.37;3.37	3.75	0.898	0.19264	.	0.678778	0.12926	N	0.427747	T	0.03220	0.0094	N	0.12569	0.235	0.09310	N	1	B;B	0.19073	0.018;0.033	B;B	0.12156	0.007;0.007	T	0.41698	-0.9494	10	0.72032	D	0.01	.	2.1871	0.03890	0.1559:0.5087:0.1521:0.1834	.	818;830	B7ZKX2;P59923	.;ZN445_HUMAN	D	830	ENSP00000413073:E830D;ENSP00000379387:E830D	ENSP00000379387:E830D	E	-	3	2	ZNF445	44463677	0.000000	0.05858	0.072000	0.20136	0.029000	0.11900	-0.341000	0.07811	0.180000	0.19960	-0.251000	0.11542	GAG		0.403	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		85	18	1	0	1.52804e-57	0.00361	2.81987e-57	85	18				
DHX30	22907	broad.mit.edu	37	3	47890012	47890012	+	Silent	SNP	C	C	T	rs79236789		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:47890012C>T	ENST00000445061.1	+	16	2954	c.2547C>T	c.(2545-2547)gaC>gaT	p.D849D	DHX30_ENST00000348968.4_Silent_p.D821D|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Silent_p.D877D|DHX30_ENST00000446256.2_Silent_p.D810D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	849						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGCAGTGGACGAGGCTGTGA	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14157	0.0		0.0	False		,,,				2504	0.0						uc003cru.2		NA																	0				ovary(2)|skin(2)	4						c.(2545-2547)GAC>GAT		DEAH (Asp-Glu-Ala-His) box polypeptide 30							112.0	115.0	114.0					3																	47890012		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47890012C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2547C>T	3.37:g.47890012C>T						DHX30_uc003crt.2_Silent_p.D810D|MIR1226_hsa-mir-1226|MI0006313_5'Flank	p.D849D	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2973	+			849					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.2547C>T	CCDS2759.1																																																																																				0.622	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		46	103	0	0	0	0.00361	0	46	103				
USP19	10869	broad.mit.edu	37	3	49148462	49148462	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:49148462C>A	ENST00000398888.2	-	22	3475	c.3157G>T	c.(3157-3159)Gcc>Tcc	p.A1053S	USP19_ENST00000417901.1_Missense_Mutation_p.A1156S|USP19_ENST00000434032.2_Missense_Mutation_p.A1154S|USP19_ENST00000398898.2_Missense_Mutation_p.A1093S|USP19_ENST00000398896.1_Missense_Mutation_p.A861S|USP19_ENST00000453664.1_Missense_Mutation_p.A1144S|USP19_ENST00000398892.3_Missense_Mutation_p.A1093S	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1053	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGCCCGGGCAGCCTCACCG	0.622																																							uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(3157-3159)GCC>TCC		ubiquitin thioesterase 19							55.0	65.0	62.0					3																	49148462		1986	4166	6152	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49148462C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3157G>T	3.37:g.49148462C>A	ENSP00000381863:p.Ala1053Ser					USP19_uc003cwa.2_Missense_Mutation_p.A861S|USP19_uc003cvz.3_Missense_Mutation_p.A1156S|USP19_uc011bcg.1_Missense_Mutation_p.A1144S|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.A811S|USP19_uc011bch.1_Missense_Mutation_p.A1154S	p.A1053S	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	22	3318	-			1053			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.3157G>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502193	0.64298	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.19938	2.13;2.11;2.21;2.2;2.12;2.24;2.21	5.76	5.76	0.90799	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.188792	0.56097	D	0.000027	T	0.34948	0.0915	N	0.21194	0.64	0.51767	D	0.999935	D;D;P;D;B	0.76494	0.984;0.972;0.91;0.999;0.295	P;P;P;D;B	0.83275	0.721;0.721;0.508;0.996;0.289	T	0.03840	-1.0999	10	0.31617	T	0.26	-15.8251	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1154;1144;1053;1093;861	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	S	861;1093;1156;1144;1093;1053;1154	ENSP00000381870:A861S;ENSP00000381872:A1093S;ENSP00000395260:A1156S;ENSP00000400090:A1144S;ENSP00000381867:A1093S;ENSP00000381863:A1053S;ENSP00000401197:A1154S	ENSP00000381863:A1053S	A	-	1	0	USP19	49123466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.358000	0.59442	2.706000	0.92434	0.655000	0.94253	GCC		0.622	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		60	11	1	0	1.19403e-26	0.00361	1.9276e-26	60	11				
HYAL1	3373	broad.mit.edu	37	3	50338129	50338129	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:50338129C>T	ENST00000266031.4	-	3	1708	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S	HYAL1_ENST00000320295.8_Missense_Mutation_p.G365S|HYAL1_ENST00000447605.2_Missense_Mutation_p.G106S|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.G335S|HYAL3_ENST00000513170.1_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL1_ENST00000457214.2_Missense_Mutation_p.G183S|HYAL1_ENST00000395144.2_Missense_Mutation_p.G365S|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|NAT6_ENST00000443094.2_5'Flank|NAT6_ENST00000443842.1_5'Flank|HYAL3_ENST00000450982.1_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	365	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGGCCATGGCCGGAGCACAGG	0.617																																							uc003czp.2		NA																	0				lung(1)	1						c.(1093-1095)GGC>AGC		hyaluronoglucosaminidase 1 isoform 1	Hyaluronidase(DB00070)						57.0	64.0	62.0					3																	50338129		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50338129C>T	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1093G>A	3.37:g.50338129C>T	ENSP00000266031:p.Gly365Ser					HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.G183S|HYAL1_uc003czo.2_Missense_Mutation_p.G106S|HYAL1_uc003czq.2_Missense_Mutation_p.G335S|HYAL1_uc003czr.2_Missense_Mutation_p.G365S|HYAL1_uc003czn.2_Missense_Mutation_p.G26S|HYAL1_uc003czs.2_Missense_Mutation_p.G365S|HYAL1_uc003czt.2_3'UTR	p.G365S	NM_033159	NP_149349	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	1225	-			365			EGF-like.		Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.1093G>A	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987058	0.35036	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.32272	2.2;2.2;2.2;1.88;1.47;1.46	5.15	3.34	0.38264	Epidermal growth factor-like (1);	0.387132	0.28425	N	0.015391	T	0.28034	0.0691	L	0.60012	1.86	0.34325	D	0.687012	P;B	0.41188	0.741;0.239	B;B	0.34779	0.189;0.077	T	0.35450	-0.9788	10	0.41790	T	0.15	-13.8343	12.9192	0.58222	0.0:0.849:0.0:0.151	.	335;365	Q12794-2;Q12794	.;HYAL1_HUMAN	S	365;365;365;335;183;106	ENSP00000378576:G365S;ENSP00000266031:G365S;ENSP00000346068:G365S;ENSP00000378575:G335S;ENSP00000393358:G183S;ENSP00000390149:G106S	ENSP00000266031:G365S	G	-	1	0	HYAL1	50313133	0.001000	0.12720	0.254000	0.24359	0.100000	0.18952	0.400000	0.20932	0.212000	0.20703	-1.598000	0.00824	GGC		0.617	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			15	3	0	0	0	0.00245	0	15	3				
PARP3	10039	broad.mit.edu	37	3	51979203	51979203	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:51979203C>A	ENST00000417220.2	+	7	1312	c.824C>A	c.(823-825)tCc>tAc	p.S275Y	PARP3_ENST00000431474.1_Missense_Mutation_p.S275Y|PARP3_ENST00000398755.3_Missense_Mutation_p.S282Y			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	275	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCATCAATTCCCCTGAGCTT	0.642																																							uc003dby.2		NA																	0				ovary(1)	1						c.(823-825)TCC>TAC		poly (ADP-ribose) polymerase family, member 3							59.0	68.0	65.0					3																	51979203		2050	4196	6246	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51979203C>A	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.824C>A	3.37:g.51979203C>A	ENSP00000395951:p.Ser275Tyr					PARP3_uc003dbz.2_Missense_Mutation_p.S282Y	p.S275Y	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	6	1195	+			275			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.824C>A	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433093	0.43224	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.2	5.2	0.72013	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.577874	0.20446	N	0.092190	T	0.47284	0.1437	M	0.87097	2.86	0.09310	N	0.999999	D;D	0.60575	0.988;0.971	P;P	0.61940	0.709;0.896	T	0.45175	-0.9279	10	0.87932	D	0	-23.8435	18.5299	0.90987	0.0:1.0:0.0:0.0	.	282;275	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	Y	275;275;282;275	ENSP00000395951:S275Y;ENSP00000401511:S275Y;ENSP00000381740:S282Y;ENSP00000417625:S275Y	ENSP00000381740:S282Y	S	+	2	0	PARP3	51954243	0.001000	0.12720	0.972000	0.41901	0.345000	0.29048	1.390000	0.34464	2.722000	0.93159	0.655000	0.94253	TCC		0.642	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		66	18	1	0	1.19759e-16	0.00361	1.65675e-16	66	18				
FLNB	2317	broad.mit.edu	37	3	58140568	58140568	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:58140568G>T	ENST00000295956.4	+	40	6850	c.6685G>T	c.(6685-6687)Gct>Tct	p.A2229S	FLNB_ENST00000358537.3_Missense_Mutation_p.A2205S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.A2188S|FLNB_ENST00000429972.2_Missense_Mutation_p.A2218S|FLNB_ENST00000419752.2_Missense_Mutation_p.A2049S|FLNB_ENST00000490882.1_Missense_Mutation_p.A2260S|FLNB_ENST00000493452.1_Missense_Mutation_p.A2036S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2229	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTCTCCATCGCTGTTGAGGG	0.537																																							uc003djj.2		NA																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(6685-6687)GCT>TCT		filamin B isoform 2							75.0	75.0	75.0					3																	58140568		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58140568G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6685G>T	3.37:g.58140568G>T	ENSP00000295956:p.Ala2229Ser					FLNB_uc010hne.2_Missense_Mutation_p.A2260S|FLNB_uc003djk.2_Missense_Mutation_p.A2218S|FLNB_uc010hnf.2_Missense_Mutation_p.A2205S|FLNB_uc003djl.2_Missense_Mutation_p.A2049S|FLNB_uc003djm.2_Missense_Mutation_p.A2036S	p.A2229S	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	40	6850	+			2229			Interaction with INPPL1.|Filamin 21.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6685G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326461	0.81690	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	N	0.12663	0.25	0.80722	D	1	B;B;P;B;P;P	0.37122	0.01;0.181;0.583;0.041;0.583;0.583	B;P;P;B;P;P	0.57152	0.132;0.594;0.814;0.324;0.701;0.701	T	0.80665	-0.1281	10	0.18276	T	0.48	.	19.8408	0.96685	0.0:0.0:1.0:0.0	.	2205;2260;2036;2049;2218;2229	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	S	2229;2260;2205;2218;2188;2036;2049	ENSP00000295956:A2229S;ENSP00000420213:A2260S;ENSP00000351339:A2205S;ENSP00000415599:A2218S;ENSP00000232447:A2188S;ENSP00000418510:A2036S;ENSP00000414532:A2049S	ENSP00000295956:A2229S	A	+	1	0	FLNB	58115608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	GCT		0.537	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		54	8	1	0	2.12129e-23	0.00361	3.28468e-23	54	8				
CADPS	8618	broad.mit.edu	37	3	62860663	62860663	+	Missense_Mutation	SNP	G	G	C	rs201514742		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:62860663G>C	ENST00000383710.4	-	1	391	c.42C>G	c.(40-42)atC>atG	p.I14M	CADPS_ENST00000357948.3_Missense_Mutation_p.I14M|CADPS_ENST00000283269.9_Missense_Mutation_p.I14M|CADPS_ENST00000490353.2_Missense_Mutation_p.I14M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	14					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCTCCTCCACGATCTCATCCG	0.706																																							uc003dll.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(40-42)ATC>ATG		Ca2+-dependent secretion activator isoform 1							9.0	10.0	10.0					3																	62860663		1792	3964	5756	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62860663G>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.42C>G	3.37:g.62860663G>C	ENSP00000373215:p.Ile14Met					CADPS_uc003dlm.2_Missense_Mutation_p.I14M|CADPS_uc003dln.2_Missense_Mutation_p.I14M	p.I14M	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	1	402	-		Lung SC(41;0.0452)	14					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.42C>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792992	0.31685	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.47177	0.91;0.9;0.9;0.85	5.49	3.69	0.42338	.	0.357181	0.26149	N	0.026057	T	0.39937	0.1097	L	0.53249	1.67	0.29293	N	0.869247	B;B;B	0.32425	0.371;0.371;0.255	B;B;B	0.35312	0.2;0.2;0.098	T	0.35101	-0.9802	10	0.35671	T	0.21	.	5.541	0.17038	0.2411:0.1554:0.6035:0.0	.	14;14;14	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	M	14	ENSP00000373215:I14M;ENSP00000350632:I14M;ENSP00000283269:I14M;ENSP00000418736:I14M	ENSP00000283269:I14M	I	-	3	3	CADPS	62835703	0.970000	0.33590	0.998000	0.56505	0.999000	0.98932	0.276000	0.18716	0.698000	0.31739	0.650000	0.86243	ATC		0.706	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		7	2	0	0	0	0.00308	0	7	2				
EOGT	285203	broad.mit.edu	37	3	69058943	69058943	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:69058943G>C	ENST00000383701.3	-	4	797	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	EOGT_ENST00000540764.1_5'Flank|EOGT_ENST00000295571.5_Missense_Mutation_p.Q19E|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	19					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GCTTCATTCTGACCACTCAGT	0.428																																							uc003dnl.2		NA																	0				ovary(1)	1						c.(55-57)CAG>GAG		AER61 glycosyltransferase							118.0	106.0	110.0					3																	69058943		2203	4300	6503	SO:0001583	missense	285203					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:69058943G>C	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.55C>G	3.37:g.69058943G>C	ENSP00000373206:p.Gln19Glu					C3orf64_uc003dnk.2_Missense_Mutation_p.Q19E|C3orf64_uc011bfw.1_RNA|C3orf64_uc003dnm.1_RNA	p.Q19E	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)	4	460	-		Lung NSC(201;0.126)	19					A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.55C>G		.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173131	0.01646	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000424374;ENST00000456376	.	.	.	5.83	5.83	0.93111	.	0.598419	0.18419	N	0.141805	T	0.31263	0.0791	L	0.31664	0.95	0.26195	N	0.979535	B;B	0.25904	0.0;0.137	B;B	0.25140	0.0;0.058	T	0.13710	-1.0499	9	0.30078	T	0.28	-18.4545	11.3098	0.49358	0.0:0.1163:0.6924:0.1913	.	19;19	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	E	19	.	ENSP00000295571:Q19E	Q	-	1	0	C3orf64	69141633	0.998000	0.40836	0.406000	0.26421	0.059000	0.15707	2.867000	0.48428	2.763000	0.94921	0.585000	0.79938	CAG		0.428	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		24	3	0	0	0	0.004656	0	24	3				
LMOD3	56203	broad.mit.edu	37	3	69168080	69168080	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:69168080G>A	ENST00000420581.2	-	2	1605	c.1426C>T	c.(1426-1428)Ccg>Tcg	p.P476S	LMOD3_ENST00000475434.1_Missense_Mutation_p.P476S|LMOD3_ENST00000489031.1_Missense_Mutation_p.P476S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	476						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTGTACTTCGGGGCCTGCGAT	0.552																																							uc003dns.2		NA																	0				ovary(1)	1						c.(1426-1428)CCG>TCG		leiomodin 3 (fetal)							67.0	72.0	70.0					3																	69168080		2049	4210	6259	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168080G>A	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1426C>T	3.37:g.69168080G>A	ENSP00000414670:p.Pro476Ser					LMOD3_uc003dnt.2_Missense_Mutation_p.P476S	p.P476S	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1635	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	476					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1426C>T	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	6.805	0.517643	0.13005	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.12465	2.68;2.68;2.68	5.84	4.93	0.64822	.	0.282202	0.40302	N	0.001121	T	0.13884	0.0336	L	0.50333	1.59	0.22446	N	0.999091	B	0.29716	0.255	B	0.22152	0.038	T	0.23297	-1.0192	10	0.12766	T	0.61	-19.4327	18.597	0.91232	0.0:0.1265:0.8735:0.0	.	476	Q0VAK6	LMOD3_HUMAN	S	476	ENSP00000414670:P476S;ENSP00000417210:P476S;ENSP00000418645:P476S	ENSP00000414670:P476S	P	-	1	0	LMOD3	69250770	0.797000	0.28877	0.768000	0.31515	0.019000	0.09904	1.157000	0.31724	2.779000	0.95612	0.591000	0.81541	CCG		0.552	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		26	9	0	0	0	0.003954	0	26	9				
PDZRN3	23024	broad.mit.edu	37	3	73657747	73657747	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:73657747A>G	ENST00000263666.4	-	2	925		c.e2+1		PDZRN3_ENST00000308537.4_Splice_Site	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3						neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TAATTAACATACCACACTCGG	0.478																																							uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.e2+1		PDZ domain containing ring finger 3							51.0	52.0	51.0					3																	73657747		2203	4300	6503	SO:0001630	splice_region_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73657747A>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.810+1T>C	3.37:g.73657747A>G							p.V270_splice	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	2	906	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)						A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Splice_Site	SNP	ENST00000263666.4	37	c.810_splice	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434452	0.83776	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.469	0.75426	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDZRN3	73740437	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.697000	0.84279	2.030000	0.59900	0.533000	0.62120	.		0.478	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	Intron	5	3	0	0	0	0.001168	0	5	3				
EPHA3	2042	broad.mit.edu	37	3	89390085	89390085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:89390085C>A	ENST00000336596.2	+	4	1059	c.834C>A	c.(832-834)taC>taA	p.Y278*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Y278*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Y278*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	278	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Y278Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGGTTTCTACAAGGCATTGG	0.363										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(832-834)TAC>TAA		ephrin receptor EphA3 isoform a precursor							148.0	144.0	145.0					3																	89390085		2203	4300	6503	SO:0001587	stop_gained	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390085C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.834C>A	3.37:g.89390085C>A	ENSP00000337451:p.Tyr278*	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y278*|EPHA3_uc010hon.1_RNA	p.Y278*	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1059	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	278			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Nonsense_Mutation	SNP	ENST00000336596.2	37	c.834C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	36	5.762799	0.96906	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9457	0.79792	0.0:0.9343:0.0:0.0657	.	.	.	.	X	278	.	.	Y	+	3	2	EPHA3	89472775	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.554000	0.45845	2.941000	0.99782	0.655000	0.94253	TAC		0.363	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		58	15	1	0	1.14385e-22	0.00361	1.75433e-22	58	15				
PROS1	5627	broad.mit.edu	37	3	93603583	93603583	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:93603583T>G	ENST00000394236.3	-	12	1797	c.1481A>C	c.(1480-1482)cAc>cCc	p.H494P	PROS1_ENST00000407433.1_Missense_Mutation_p.H363P	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	494	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATAATCTATGTGAAATTGAGC	0.289																																							uc003drb.3		NA																	0				large_intestine(1)	1						c.(1480-1482)CAC>CCC		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						100.0	97.0	98.0					3																	93603583		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93603583T>G		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1481A>C	3.37:g.93603583T>G	ENSP00000377783:p.His494Pro					PROS1_uc010hoo.2_Missense_Mutation_p.H363P|PROS1_uc003dqz.3_Missense_Mutation_p.H363P	p.H494P	NM_000313	NP_000304	P07225	PROS_HUMAN			12	1822	-			494			Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1481A>C	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	0.028	-1.351393	0.01256	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.76968	-1.06;-1.06	3.15	-5.32	0.02722	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.985643	0.08296	N	0.967697	T	0.60104	0.2243	L	0.38175	1.15	0.09310	N	0.999999	B	0.17465	0.022	B	0.18263	0.021	T	0.43180	-0.9407	10	0.38643	T	0.18	.	1.9615	0.03387	0.2312:0.1295:0.1152:0.5241	.	494	P07225	PROS_HUMAN	P	494;363	ENSP00000377783:H494P;ENSP00000385794:H363P	ENSP00000377783:H494P	H	-	2	0	PROS1	95086273	0.185000	0.23213	0.005000	0.12908	0.084000	0.17831	-0.083000	0.11286	-1.382000	0.02109	-2.424000	0.00217	CAC		0.289	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		7	24	0	0	0	0.004482	0	7	24				
COL8A1	1295	broad.mit.edu	37	3	99514012	99514012	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:99514012G>A	ENST00000261037.3	+	5	1647	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G423R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	423	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGGCCACAGGGGCCACCAGG	0.607																																							uc003dtg.1		NA																	0					0						c.(1267-1269)GGG>AGG		alpha 1 type VIII collagen precursor							38.0	38.0	38.0					3																	99514012		2203	4299	6502	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514012G>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1267G>A	3.37:g.99514012G>A	ENSP00000261037:p.Gly423Arg					COL8A1_uc003dth.1_Missense_Mutation_p.G423R|COL8A1_uc003dti.1_Missense_Mutation_p.G424R	p.G423R	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	1512	+			423			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.1267G>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254517	0.59212	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.99537	-6.11;-6.11	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97390	0.9988	10	0.87932	D	0	.	17.6174	0.88071	0.0:0.0:1.0:0.0	.	424;423	E7EPK9;P27658	.;CO8A1_HUMAN	R	423	ENSP00000261037:G423R;ENSP00000273342:G423R	ENSP00000261037:G423R	G	+	1	0	COL8A1	100996702	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.819000	0.99357	2.746000	0.94184	0.563000	0.77884	GGG		0.607	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		17	40	0	0	0	0.006122	0	17	40				
ABI3BP	25890	broad.mit.edu	37	3	100621464	100621464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:100621464G>T	ENST00000284322.5	-	3	456	c.347C>A	c.(346-348)tCa>tAa	p.S116*	ABI3BP_ENST00000471714.1_Nonsense_Mutation_p.S116*|ABI3BP_ENST00000495063.1_Nonsense_Mutation_p.S116*|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	116					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GACTATACCTGAACATGACTT	0.398																																							uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(346-348)TCA>TAA		ABI gene family, member 3 (NESH) binding protein							82.0	78.0	79.0					3																	100621464		1876	4124	6000	SO:0001587	stop_gained	25890					extracellular space		g.chr3:100621464G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.347C>A	3.37:g.100621464G>T	ENSP00000284322:p.Ser116*					ABI3BP_uc003duo.2_Nonsense_Mutation_p.S109*|ABI3BP_uc003dup.3_Nonsense_Mutation_p.S109*	p.S116*	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			3	432	-			116					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Nonsense_Mutation	SNP	ENST00000284322.5	37	c.347C>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627416	0.96671	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258;ENST00000530539	.	.	.	5.79	5.79	0.91817	.	0.182166	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6638	13.7419	0.62853	0.0:0.0:0.8461:0.1539	.	.	.	.	X	116;116;116;35;56	.	ENSP00000284322:S116X	S	-	2	0	ABI3BP	102104154	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.123000	0.57917	2.739000	0.93911	0.655000	0.94253	TCA		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			7	11	1	0	2.0095e-06	0.001984	2.2374e-06	7	11				
SENP7	57337	broad.mit.edu	37	3	101047391	101047391	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:101047391C>A	ENST00000394095.2	-	22	2849		c.e22-1		SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394085.3_Splice_Site	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7							intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AATACATGGCCTATGAAAAGC	0.318																																							uc003dut.2		NA																	0				ovary(3)|lung(2)	5						c.e22-1		sentrin/SUMO-specific protease 7 isoform 1							100.0	111.0	107.0					3																	101047391		2203	4290	6493	SO:0001630	splice_region_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101047391C>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2796-1G>T	3.37:g.101047391C>A						SENP7_uc003duu.2_Splice_Site_p.R867_splice|SENP7_uc003duv.2_Splice_Site_p.R899_splice|SENP7_uc003duw.2_Splice_Site_p.R866_splice|SENP7_uc003dux.2_Splice_Site_p.R768_splice|SENP7_uc003dus.2_Splice_Site_p.R120_splice	p.R932_splice	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			22	2907	-								A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Splice_Site	SNP	ENST00000394095.2	37	c.2796_splice	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918698	0.73098	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2256	0.93816	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SENP7	102530081	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	4.768000	0.62293	2.543000	0.85770	0.591000	0.81541	.		0.318	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	Intron	31	97	1	0	7.11191e-15	0.002836	9.49891e-15	31	97				
CBLB	868	broad.mit.edu	37	3	105495359	105495359	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:105495359G>C	ENST00000264122.4	-	4	768	c.447C>G	c.(445-447)atC>atG	p.I149M	CBLB_ENST00000403724.1_Missense_Mutation_p.I149M|CBLB_ENST00000394027.3_Missense_Mutation_p.I171M|CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.I149M	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	149	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTGACTGAAGATAAGGGACA	0.373			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NA		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(445-447)ATC>ATG		Cas-Br-M (murine) ecotropic retroviral							117.0	114.0	115.0					3																	105495359		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105495359G>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.447C>G	3.37:g.105495359G>C	ENSP00000264122:p.Ile149Met					CBLB_uc011bhi.1_Missense_Mutation_p.I171M|CBLB_uc003dwd.1_Missense_Mutation_p.I149M|CBLB_uc003dwe.1_Missense_Mutation_p.I149M|CBLB_uc011bhj.1_Intron	p.I149M	NM_170662	NP_733762	Q13191	CBLB_HUMAN			4	769	-			149			Cbl-PTB.|4H.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.447C>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740463	0.69304	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.79	4.9	0.64082	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.048284	0.85682	D	0.000000	D	0.85483	0.5707	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.997	D	0.85987	0.1486	10	0.87932	D	0	-11.7177	9.9569	0.41673	0.0701:0.0:0.794:0.1359	.	171;149;149	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	M	149;171;149;149	ENSP00000264122:I149M;ENSP00000377595:I171M;ENSP00000384816:I149M;ENSP00000384938:I149M	ENSP00000264122:I149M	I	-	3	3	CBLB	106978049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.035000	0.57297	2.745000	0.94114	0.557000	0.71058	ATC		0.373	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		11	35	0	0	0	0.00245	0	11	35				
CCDC54	84692	broad.mit.edu	37	3	107096857	107096857	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:107096857A>G	ENST00000261058.1	+	1	670	c.423A>G	c.(421-423)acA>acG	p.T141T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	141										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGAAGGTGACAGAACTGGAAA	0.383																																							uc003dwi.1		NA																	0					0						c.(421-423)ACA>ACG		coiled-coil domain containing 54							60.0	52.0	55.0					3																	107096857		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107096857A>G	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.423A>G	3.37:g.107096857A>G							p.T141T	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	670	+			141			Potential.		Q96A43	Silent	SNP	ENST00000261058.1	37	c.423A>G	CCDS2949.1																																																																																				0.383	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		11	36	0	0	0	0.008291	0	11	36				
DZIP3	9666	broad.mit.edu	37	3	108363525	108363525	+	Missense_Mutation	SNP	G	G	T	rs145724685	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:108363525G>T	ENST00000361582.3	+	14	1886	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E552D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	552					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGTGAAGGAGAATCCCATTG	0.403													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22009	0.0		0.0	False		,,,				2504	0.0						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1654-1656)GAG>GAT		DAZ interacting protein 3, zinc finger							116.0	116.0	116.0					3																	108363525		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363525G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1656G>T	3.37:g.108363525G>T	ENSP00000355028:p.Glu552Asp					DZIP3_uc003dxf.1_Missense_Mutation_p.E552D|DZIP3_uc011bhm.1_Missense_Mutation_p.E3D|DZIP3_uc003dxe.1_Missense_Mutation_p.E552D|DZIP3_uc003dxg.1_Missense_Mutation_p.E275D	p.E552D	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			14	2078	+			552					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1656G>T	CCDS2952.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.99	1.508382	0.27036	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.18810	2.19;2.19	4.13	4.13	0.48395	.	0.122950	0.37012	N	0.002287	T	0.27027	0.0662	N	0.17082	0.46	0.32119	N	0.588219	D;D;D	0.61697	0.984;0.99;0.984	D;D;D	0.73380	0.956;0.98;0.956	T	0.08229	-1.0732	10	0.35671	T	0.21	-18.5268	12.2077	0.54361	0.0:0.0:1.0:0.0	.	170;552;552	D3DN61;C9J9M8;Q86Y13	.;.;DZIP3_HUMAN	D	552	ENSP00000355028:E552D;ENSP00000419981:E552D	ENSP00000355028:E552D	E	+	3	2	DZIP3	109846215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.621000	0.36986	2.590000	0.87494	0.655000	0.94253	GAG		0.403	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		25	58	1	0	1.1804e-14	0.003954	1.57224e-14	25	58				
CD96	10225	broad.mit.edu	37	3	111343206	111343206	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:111343206G>T	ENST00000283285.5	+	11	1455	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	CD96_ENST00000352690.4_Missense_Mutation_p.G426C	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	442	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GACTACCCGAGGCTTCAACTA	0.418									Opitz Trigonocephaly syndrome																														uc003dxw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1324-1326)GGC>TGC		CD96 antigen isoform 1 precursor							105.0	103.0	104.0					3																	111343206		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111343206G>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1324G>T	3.37:g.111343206G>T	ENSP00000283285:p.Gly442Cys					CD96_uc003dxx.2_Missense_Mutation_p.G426C|CD96_uc010hpy.1_Missense_Mutation_p.G426C	p.G442C	NM_198196	NP_937839	P40200	TACT_HUMAN			11	1494	+			442			Extracellular (Potential).|Pro/Ser/Thr-rich.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.1324G>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	8.895	0.954920	0.18431	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.66099	-0.18;-0.19	4.19	2.38	0.29361	.	0.788665	0.11276	N	0.580857	T	0.55832	0.1945	N	0.24115	0.695	0.21020	N	0.99981	D;D;D	0.57257	0.964;0.979;0.964	P;P;P	0.53062	0.525;0.717;0.65	T	0.43376	-0.9395	10	0.56958	D	0.05	-0.1218	6.7146	0.23296	0.2146:0.0:0.7854:0.0	.	426;426;442	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	C	426;442	ENSP00000342040:G426C;ENSP00000283285:G442C	ENSP00000283285:G442C	G	+	1	0	CD96	112825896	0.467000	0.25831	0.211000	0.23655	0.004000	0.04260	1.467000	0.35321	0.714000	0.32081	0.563000	0.77884	GGC		0.418	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			22	15	1	0	9.95505e-16	0.002299	1.35681e-15	22	15				
GCSAM	257144	broad.mit.edu	37	3	111845856	111845856	+	Missense_Mutation	SNP	C	C	A	rs150928109		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:111845856C>A	ENST00000308910.4	-	4	352	c.168G>T	c.(166-168)aaG>aaT	p.K56N	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.K58N	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	56					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										AATCTTGCCTCTTTTCAAAAA	0.303																																							uc003dys.1		NA																	0					0						c.(166-168)AAG>AAT		germinal center expressed transcript 2 isoform		C	ASN/LYS,ASN/LYS,ASN/LYS	0,4404		0,0,2202	68.0	76.0	73.0		174,123,168	-5.7	0.0	3	dbSNP_134	73	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	GCET2	NM_001190259.1,NM_001190260.1,NM_152785.4	94,94,94	0,1,6500	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	58/181,41/164,56/179	111845856	1,13001	2202	4299	6501	SO:0001583	missense	257144					mitochondrion		g.chr3:111845856C>A	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.168G>T	3.37:g.111845856C>A	ENSP00000309487:p.Lys56Asn					C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_5'UTR	p.K56N	NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN			4	318	-			56					C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	c.168G>T	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335632	0.24253	0.0	1.16E-4	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.79	-5.7	0.02421	.	1.068240	0.07336	N	0.879927	T	0.12689	0.0308	N	0.22421	0.69	0.09310	N	1	P	0.41265	0.744	B	0.32211	0.142	T	0.14727	-1.0462	9	0.49607	T	0.09	-0.0036	2.2587	0.04061	0.1139:0.2023:0.3832:0.3006	.	56	Q8N6F7	GCET2_HUMAN	N	56;58;41;39;39	.	ENSP00000309487:K56N	K	-	3	2	GCET2	113328546	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.326000	0.07965	-1.041000	0.03266	-0.140000	0.14226	AAG		0.303	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		12	23	1	0	1.49906e-05	0.00245	1.63796e-05	12	23				
CFAP44	55779	broad.mit.edu	37	3	113125860	113125860	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:113125860C>T	ENST00000295868.2	-	8	1081	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.G307S	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGCTTGAGACCGGTGAACGTA	0.403																																							uc003eae.1		NA																	0				central_nervous_system(1)	1						c.(919-921)GGT>AGT		WD repeat domain 52 isoform 2							145.0	131.0	136.0					3																	113125860		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113125860C>T																												ENST00000295868.2:c.919G>A	3.37:g.113125860C>T	ENSP00000295868:p.Gly307Ser						p.G307S	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			8	965	-			307			WD 2.			Missense_Mutation	SNP	ENST00000295868.2	37	c.919G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816874	0.90790	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.57107	5.21;0.42	4.18	4.18	0.49190	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.67382	0.2887	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.71652	-0.4528	9	0.59425	D	0.04	.	16.3077	0.82855	0.0:1.0:0.0:0.0	.	307	Q96MT7	WDR52_HUMAN	S	307	ENSP00000377428:G307S;ENSP00000295868:G307S	ENSP00000295868:G307S	G	-	1	0	WDR52	114608550	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.064000	0.76721	2.179000	0.69175	0.491000	0.48974	GGT		0.403	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			38	34	0	0	0	0.002522	0	38	34				
GRAMD1C	54762	broad.mit.edu	37	3	113563455	113563455	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:113563455G>T	ENST00000358160.4	+	2	625	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	45						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TAAAAAACAGGGGCCAAATTT	0.363																																							uc003eaq.3		NA																	0				ovary(2)|skin(1)	3						c.(133-135)GGG>TGG		GRAM domain containing 1C							123.0	128.0	127.0					3																	113563455		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113563455G>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.133G>T	3.37:g.113563455G>T	ENSP00000350881:p.Gly45Trp					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA	p.G45W	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			2	209	+			45					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.133G>T	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689851	0.68271	.	.	ENSG00000178075	ENST00000358160	T	0.32753	1.44	5.58	5.58	0.84498	.	0.318671	0.22745	N	0.056146	T	0.41488	0.1161	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33163	-0.9879	10	0.59425	D	0.04	.	15.0747	0.72069	0.0:0.0:1.0:0.0	.	45	Q8IYS0	GRM1C_HUMAN	W	45	ENSP00000350881:G45W	ENSP00000350881:G45W	G	+	1	0	GRAMD1C	115046145	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	2.269000	0.43346	2.638000	0.89438	0.655000	0.94253	GGG		0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		41	33	1	0	1.62957e-23	0.00874	2.5314e-23	41	33				
ZNF80	7634	broad.mit.edu	37	3	113955588	113955588	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:113955588T>C	ENST00000482457.2	-	1	837	c.334A>G	c.(334-336)Aag>Gag	p.K112E	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTGAAGACCTTCCCGCACTCC	0.547																																					GBM(23;986 1114 21716)	GBM(23;986 1114 21716)	uc010hqo.2		NA																	0					0						c.(334-336)AAG>GAG		zinc finger protein 80							61.0	55.0	57.0					3																	113955588		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955588T>C	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.334A>G	3.37:g.113955588T>C	ENSP00000417192:p.Lys112Glu					ZNF80_uc003ebf.2_RNA	p.K112E	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	838	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	112			C2H2-type 3; atypical.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.334A>G	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776652	0.70107	.	.	ENSG00000174255	ENST00000482457	T	0.27104	1.69	2.98	0.616	0.17613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47040	0.1424	M	0.80982	2.52	0.21355	N	0.999714	D	0.89917	1.0	D	0.87578	0.998	T	0.23190	-1.0195	9	0.87932	D	0	.	5.755	0.18168	0.0:0.2579:0.0:0.7421	.	112	P51504	ZNF80_HUMAN	E	112	ENSP00000417192:K112E	ENSP00000309812:K112E	K	-	1	0	ZNF80	115438278	0.661000	0.27430	0.009000	0.14445	0.242000	0.25591	1.702000	0.37836	0.116000	0.18110	0.533000	0.62120	AAG		0.547	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		16	29	0	0	0	0.007413	0	16	29				
TIGIT	201633	broad.mit.edu	37	3	114018486	114018486	+	Missense_Mutation	SNP	C	C	A	rs201218843		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:114018486C>A	ENST00000486257.1	+	4	691	c.434C>A	c.(433-435)gCc>gAc	p.A145D	TIGIT_ENST00000481065.1_Missense_Mutation_p.A212D|TIGIT_ENST00000383671.3_Missense_Mutation_p.A145D			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	145					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TTGCTTGGAGCCATGGCCGCG	0.572																																							uc003ebg.1		NA																	0				central_nervous_system(1)	1						c.(433-435)GCC>GAC		T cell immunoreceptor with Ig and ITIM domains							94.0	78.0	84.0					3																	114018486		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114018486C>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.434C>A	3.37:g.114018486C>A	ENSP00000419085:p.Ala145Asp						p.A145D	NM_173799	NP_776160	Q495A1	TIGIT_HUMAN			3	468	+			145			Helical; (Potential).		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.434C>A	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381929	0.42207	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.57107	0.47;0.42;0.46;0.46;0.47	4.38	1.6	0.23607	.	0.701948	0.13004	N	0.421397	T	0.48502	0.1503	L	0.29908	0.895	0.09310	N	0.999998	D	0.64830	0.994	P	0.55161	0.77	T	0.29397	-1.0013	10	0.51188	T	0.08	-9.815	5.8915	0.18915	0.0:0.6707:0.0:0.3293	.	145	Q495A1	TIGIT_HUMAN	D	124;212;145;145;124	ENSP00000418917:A124D;ENSP00000420552:A212D;ENSP00000419085:A145D;ENSP00000373167:A145D;ENSP00000419706:A124D	ENSP00000373167:A145D	A	+	2	0	TIGIT	115501176	0.094000	0.21725	0.205000	0.23548	0.015000	0.08874	0.653000	0.24902	0.586000	0.29626	-0.140000	0.14226	GCC		0.572	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		14	52	1	0	5.01169e-05	0.00499	5.42396e-05	14	52				
ZBTB20	26137	broad.mit.edu	37	3	114070047	114070047	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:114070047T>G	ENST00000474710.1	-	4	1056	c.878A>C	c.(877-879)gAg>gCg	p.E293A	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.E220A|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E220A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E220A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E220A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E220A|ZBTB20_ENST00000462705.1_Missense_Mutation_p.E220A|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	293						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGCGAGCGCTCATGGATGCG	0.657																																					NSCLC(69;748 1344 9802 11203 30933)	NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	0				ovary(4)|skin(1)	5						c.(877-879)GAG>GCG		zinc finger and BTB domain containing 20 isoform							64.0	63.0	63.0					3																	114070047		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070047T>G	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.878A>C	3.37:g.114070047T>G	ENSP00000419153:p.Glu293Ala					ZBTB20_uc003ebj.2_Missense_Mutation_p.E220A|ZBTB20_uc010hqp.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebk.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebl.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebm.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebn.2_Missense_Mutation_p.E220A|uc003ebo.1_5'Flank	p.E293A	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1058	-			293					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.878A>C	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765737	0.49574	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.12255	2.74;2.74;2.74;2.74;2.7;2.74;2.74	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	N	0.24115	0.695	0.58432	D	0.999999	B	0.33826	0.427	B	0.29176	0.099	T	0.07462	-1.0771	10	0.87932	D	0	.	15.8108	0.78561	0.0:0.0:0.0:1.0	.	293	Q9HC78	ZBT20_HUMAN	A	220;220;220;220;293;220;220	ENSP00000420324:E220A;ENSP00000377375:E220A;ENSP00000418092:E220A;ENSP00000419902:E220A;ENSP00000419153:E293A;ENSP00000349803:E220A;ENSP00000417307:E220A	ENSP00000349803:E220A	E	-	2	0	ZBTB20	115552737	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	GAG		0.657	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		64	31	0	0	0	0.00361	0	64	31				
LSAMP	4045	broad.mit.edu	37	3	115561343	115561343	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:115561343C>T	ENST00000490035.2	-	5	1231	c.732G>A	c.(730-732)gtG>gtA	p.V244V	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Silent_p.V241V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	244	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGGTGCAGGCACTGCCGAGG	0.547																																							uc003ebt.2		NA																	0					0						c.(730-732)GTG>GTA		limbic system-associated membrane protein							218.0	171.0	187.0					3																	115561343		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115561343C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.732G>A	3.37:g.115561343C>T						LSAMP_uc011bis.1_Silent_p.V244V	p.V244V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	5	1232	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	244			Ig-like C2-type 3.		Q8IV49	Silent	SNP	ENST00000490035.2	37	c.732G>A	CCDS2982.1																																																																																				0.547	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		22	22	0	0	0	0.00333	0	22	22				
IGSF11	152404	broad.mit.edu	37	3	118623535	118623535	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:118623535T>A	ENST00000393775.2	-	6	1119	c.814A>T	c.(814-816)Aat>Tat	p.N272Y	IGSF11_ENST00000489689.1_Missense_Mutation_p.N248Y|IGSF11_ENST00000354673.2_Missense_Mutation_p.N271Y|IGSF11_ENST00000441144.2_Missense_Mutation_p.N247Y|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244Y|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271Y	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTCTTTATTTTTGCTTCTC	0.343																																							uc003ebw.2		NA																	0					0						c.(814-816)AAT>TAT		immunoglobulin superfamily, member 11 isoform b							95.0	109.0	104.0					3																	118623535		2202	4299	6501	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623535T>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.814A>T	3.37:g.118623535T>A	ENSP00000377370:p.Asn272Tyr					IGSF11_uc011biv.1_Missense_Mutation_p.N244Y|IGSF11_uc003ebx.2_Missense_Mutation_p.N248Y|IGSF11_uc003eby.2_Missense_Mutation_p.N271Y|IGSF11_uc003ebz.2_Missense_Mutation_p.N247Y|IGSF11_uc010hqs.2_Missense_Mutation_p.N271Y	p.N272Y	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			6	1061	-			272			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.814A>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968510	0.53614	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.85013	-1.06;-1.28;-1.93;-1.06;-1.87;-1.81	5.28	4.11	0.48088	.	0.140928	0.64402	D	0.000006	T	0.78168	0.4241	L	0.29908	0.895	0.46203	D	0.998926	P;P;P;P;P	0.46512	0.664;0.879;0.741;0.808;0.808	B;B;B;B;B	0.42422	0.117;0.387;0.387;0.216;0.216	T	0.78942	-0.2005	10	0.72032	D	0.01	.	11.1053	0.48199	0.0:0.0:0.4472:0.5528	.	244;247;271;248;272	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	Y	271;272;248;271;247;244	ENSP00000406092:N271Y;ENSP00000377370:N272Y;ENSP00000420486:N248Y;ENSP00000346700:N271Y;ENSP00000401240:N247Y;ENSP00000417413:N244Y	ENSP00000346700:N271Y	N	-	1	0	IGSF11	120106225	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.115000	0.50391	1.016000	0.39470	0.533000	0.62120	AAT		0.343	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			49	251	0	0	0	0.00361	0	49	251				
IGSF11	152404	broad.mit.edu	37	3	118623538	118623538	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:118623538T>C	ENST00000393775.2	-	6	1116	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	IGSF11_ENST00000489689.1_Missense_Mutation_p.K247E|IGSF11_ENST00000354673.2_Missense_Mutation_p.K270E|IGSF11_ENST00000441144.2_Missense_Mutation_p.K246E|IGSF11_ENST00000491903.1_Missense_Mutation_p.K243E|IGSF11_ENST00000425327.2_Missense_Mutation_p.K270E	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	271					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCTTTATTTTTGCTTCTCCAG	0.353																																							uc003ebw.2		NA																	0					0						c.(811-813)AAA>GAA		immunoglobulin superfamily, member 11 isoform b							96.0	111.0	106.0					3																	118623538		2202	4299	6501	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623538T>C	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.811A>G	3.37:g.118623538T>C	ENSP00000377370:p.Lys271Glu					IGSF11_uc011biv.1_Missense_Mutation_p.K243E|IGSF11_uc003ebx.2_Missense_Mutation_p.K247E|IGSF11_uc003eby.2_Missense_Mutation_p.K270E|IGSF11_uc003ebz.2_Missense_Mutation_p.K246E|IGSF11_uc010hqs.2_Missense_Mutation_p.K270E	p.K271E	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			6	1058	-			271			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.811A>G	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483373	0.84854	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.84730	-1.08;-1.3;-1.89;-1.08;-1.87;-1.76	5.28	5.28	0.74379	.	0.045838	0.85682	D	0.000000	T	0.79667	0.4485	L	0.31476	0.935	0.58432	D	0.999999	P;D;P;P;P	0.55385	0.914;0.971;0.948;0.952;0.952	B;P;P;B;B	0.45276	0.283;0.475;0.475;0.368;0.368	T	0.78783	-0.2069	10	0.30078	T	0.28	.	14.56	0.68128	0.0:0.0:0.0:1.0	.	243;246;270;247;271	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	E	270;271;247;270;246;243	ENSP00000406092:K270E;ENSP00000377370:K271E;ENSP00000420486:K247E;ENSP00000346700:K270E;ENSP00000401240:K246E;ENSP00000417413:K243E	ENSP00000346700:K270E	K	-	1	0	IGSF11	120106228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.219000	0.78000	2.232000	0.73038	0.533000	0.62120	AAA		0.353	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			225	78	0	0	0	0.00361	0	225	78				
PLA1A	51365	broad.mit.edu	37	3	119336897	119336897	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:119336897G>T	ENST00000273371.4	+	7	858	c.786G>T	c.(784-786)agG>agT	p.R262S	PLA1A_ENST00000494440.1_Missense_Mutation_p.R246S|PLA1A_ENST00000488919.1_Missense_Mutation_p.R89S|PLA1A_ENST00000495992.1_Missense_Mutation_p.R246S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	262					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCACATGAGGGCTGTGCACC	0.468																																							uc003ecu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(784-786)AGG>AGT		phospholipase A1 member A precursor							234.0	231.0	232.0					3																	119336897		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336897G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.786G>T	3.37:g.119336897G>T	ENSP00000273371:p.Arg262Ser					PLA1A_uc003ecv.2_Missense_Mutation_p.R246S|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.R89S	p.R262S	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			7	825	+			262					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.786G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011500	0.35511	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27	5.26	2.02	0.26589	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.92169	3.28	0.43841	D	0.996426	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97931	1.0320	10	0.87932	D	0	-21.1284	9.4555	0.38751	0.3643:0.0:0.6357:0.0	.	246;262	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	262;89;246;246;128	ENSP00000273371:R262S;ENSP00000420625:R89S;ENSP00000417326:R246S;ENSP00000418793:R246S;ENSP00000417295:R128S	ENSP00000273371:R262S	R	+	3	2	PLA1A	120819587	1.000000	0.71417	0.999000	0.59377	0.084000	0.17831	1.664000	0.37439	0.238000	0.21222	-1.164000	0.01763	AGG		0.468	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			220	112	1	0	7.99439e-90	0.00361	1.50988e-89	220	112				
GTF2E1	2960	broad.mit.edu	37	3	120500084	120500084	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:120500084G>T	ENST00000283875.5	+	5	1180	c.1087G>T	c.(1087-1089)Gat>Tat	p.D363Y		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	363					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TGAGTCAGATGATGATTCTCC	0.532																																							uc003edz.3		NA																	0				ovary(1)	1						c.(1087-1089)GAT>TAT		general transcription factor IIE, polypeptide 1,							123.0	122.0	122.0					3																	120500084		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120500084G>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1087G>T	3.37:g.120500084G>T	ENSP00000283875:p.Asp363Tyr						p.D363Y	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	5	1201	+			363					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.1087G>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044064	0.75732	.	.	ENSG00000153767	ENST00000283875	T	0.46451	0.87	5.39	5.39	0.77823	.	0.204155	0.50627	D	0.000106	T	0.54208	0.1844	L	0.47716	1.5	0.53005	D	0.999965	D	0.60160	0.987	P	0.62298	0.9	T	0.52616	-0.8552	10	0.59425	D	0.04	-16.4511	13.9778	0.64284	0.0:0.1514:0.8486:0.0	.	363	P29083	T2EA_HUMAN	Y	363	ENSP00000283875:D363Y	ENSP00000283875:D363Y	D	+	1	0	GTF2E1	121982774	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.751000	0.68720	2.814000	0.96858	0.650000	0.86243	GAT		0.532	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		73	56	1	0	4.98926e-31	0.00361	8.38334e-31	73	56				
POLQ	10721	broad.mit.edu	37	3	121151258	121151258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121151258G>A	ENST00000264233.5	-	30	7794	c.7666C>T	c.(7666-7668)Cag>Tag	p.Q2556*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2556					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGACAATCTGAGCTACCTAA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(7666-7668)CAG>TAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							86.0	84.0	85.0					3																	121151258		2202	4299	6501	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121151258G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7666C>T	3.37:g.121151258G>A	ENSP00000264233:p.Gln2556*					POLQ_uc003eed.2_Nonsense_Mutation_p.Q1728*	p.Q2556*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	30	7795	-			2556					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.7666C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	48	14.192015	0.99784	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	4.81	4.81	0.61882	.	0.202580	0.45606	D	0.000360	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	16.8159	0.85733	0.0:0.0:1.0:0.0	.	.	.	.	X	2179;2556;2692	.	ENSP00000264233:Q2556X	Q	-	1	0	POLQ	122633948	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.200000	0.89733	2.503000	0.84419	0.467000	0.42956	CAG		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		24	17	0	0	0	0.002299	0	24	17				
SLC15A2	6565	broad.mit.edu	37	3	121643199	121643199	+	Splice_Site	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121643199G>C	ENST00000489711.1	+	12	1392	c.1004G>C	c.(1003-1005)gGg>gCg	p.G335A	SLC15A2_ENST00000295605.2_Splice_Site_p.G304A|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	335					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATGTTTCAGGGGTTTTTTGTG	0.368																																							uc003eep.2		NA																	0				skin(1)	1						c.(1003-1005)GGG>GCG		peptide transporter 2 isoform a	Cefadroxil(DB01140)						166.0	174.0	171.0					3																	121643199		2203	4300	6503	SO:0001630	splice_region_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121643199G>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1003-1G>C	3.37:g.121643199G>C						SLC15A2_uc011bjn.1_Missense_Mutation_p.G304A	p.G335A	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	12	1157	+			335					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1004G>C	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711427	0.68730	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.71579	-0.58;-0.58	5.5	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);	0.155915	0.56097	D	0.000021	D	0.84710	0.5532	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.79784	0.993;0.872	D	0.86351	0.1711	10	0.49607	T	0.09	-10.7096	14.4564	0.67418	0.0:0.1482:0.8518:0.0	.	304;335	B4E2A7;Q16348	.;S15A2_HUMAN	A	335;297;304	ENSP00000417085:G335A;ENSP00000295605:G304A	ENSP00000295605:G304A	G	+	2	0	SLC15A2	123125889	1.000000	0.71417	0.882000	0.34594	0.754000	0.42855	7.660000	0.83776	1.454000	0.47793	0.561000	0.74099	GGG		0.368	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	Missense_Mutation	36	109	0	0	0	0.007835	0	36	109				
CD86	942	broad.mit.edu	37	3	121822511	121822511	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121822511G>T	ENST00000330540.2	+	3	333	c.217G>T	c.(217-219)Gag>Tag	p.E73*	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Nonsense_Mutation_p.E67*	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	73	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CTTAGGCAAAGAGAAATTTGA	0.428																																					GBM(67;1379 1389 36064 39806)	GBM(67;1379 1389 36064 39806)	uc003eet.2		NA																	0				pancreas(1)|skin(1)	2						c.(217-219)GAG>TAG		CD86 antigen isoform 1	Abatacept(DB01281)						145.0	144.0	144.0					3																	121822511		2203	4300	6503	SO:0001587	stop_gained	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822511G>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.217G>T	3.37:g.121822511G>T	ENSP00000332049:p.Glu73*					CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Nonsense_Mutation_p.E67*	p.E73*	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	333	+			73			Ig-like V-type.|Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Nonsense_Mutation	SNP	ENST00000330540.2	37	c.217G>T	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.145763|2.145763	0.37923|0.37923	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	.|.	.|.	.|.	5.54|5.54	3.73|3.73	0.42828|0.42828	.|.	0.311919|.	0.28001|.	N|.	0.016984|.	.|T	.|0.34454	.|0.0898	.|.	.|.	.|.	0.27607|0.27607	N|N	0.948771|0.948771	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.21759	.|-1.0236	.|4	0.72032|.	D|.	0.01|.	-8.68|-8.68	6.6183|6.6183	0.22788|0.22788	0.0884:0.0:0.7342:0.1773|0.0884:0.0:0.7342:0.1773	.|.	.|.	.|.	.|.	X|I	73;67;67|68	.|.	ENSP00000332049:E73X|.	E|R	+|+	1|2	0|0	CD86|CD86	123305201|123305201	0.993000|0.993000	0.37304|0.37304	0.155000|0.155000	0.22561|0.22561	0.403000|0.403000	0.30841|0.30841	2.469000|2.469000	0.45110|0.45110	0.870000|0.870000	0.35726|0.35726	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.428	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		17	72	1	0	1.67942e-08	0.006122	1.97446e-08	17	72				
CASR	846	broad.mit.edu	37	3	121976194	121976194	+	Missense_Mutation	SNP	C	C	A	rs104893694		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:121976194C>A	ENST00000490131.1	+	3	824	c.452C>A	c.(451-453)aCg>aAg	p.T151K	CASR_ENST00000498619.1_Missense_Mutation_p.T151K|CASR_ENST00000296154.5_Missense_Mutation_p.T151K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	151			T -> M (in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor). {ECO:0000269|PubMed:8698326, ECO:0000269|PubMed:8813042}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCGTCTCCACGGCAGTGGCA	0.542																																							uc003eev.3		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7	GRCh37	CM055911|CM960242	CASR	M	rs104893694	c.(451-453)ACG>AAG		calcium-sensing receptor precursor	Cinacalcet(DB01012)						63.0	62.0	63.0					3																	121976194		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121976194C>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.452C>A	3.37:g.121976194C>A	ENSP00000418685:p.Thr151Lys					CASR_uc003eew.3_Missense_Mutation_p.T151K	p.T151K	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	824	+			151		T -> M (in FIH; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor).	Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.452C>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	34	5.352376	0.95830	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83163	-1.69;-1.69;-1.69	5.75	5.75	0.90469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88742	0.6519	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.977	D	0.89120	0.3502	10	0.72032	D	0.01	.	18.936	0.92586	0.0:1.0:0.0:0.0	.	151;151	E7ENE0;P41180	.;CASR_HUMAN	K	151	ENSP00000418685:T151K;ENSP00000420194:T151K;ENSP00000296154:T151K	ENSP00000296154:T151K	T	+	2	0	CASR	123458884	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.818000	0.86416	2.712000	0.92718	0.591000	0.81541	ACG		0.542	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		39	29	1	0	1.30998e-17	0.005524	1.84928e-17	39	29				
KALRN	8997	broad.mit.edu	37	3	123987871	123987871	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:123987871G>T	ENST00000240874.3	+	5	889	c.732G>T	c.(730-732)gaG>gaT	p.E244D	KALRN_ENST00000460856.1_Missense_Mutation_p.E244D|KALRN_ENST00000360013.3_Missense_Mutation_p.E244D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	244					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGTGGAGGAGCTGGACCGGG	0.627																																							uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(730-732)GAG>GAT		kalirin, RhoGEF kinase isoform 1							21.0	21.0	21.0					3																	123987871		2202	4299	6501	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987871G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.732G>T	3.37:g.123987871G>T	ENSP00000240874:p.Glu244Asp					KALRN_uc010hrv.1_Missense_Mutation_p.E244D|KALRN_uc003ehf.1_Missense_Mutation_p.E244D|KALRN_uc011bjy.1_Missense_Mutation_p.E244D	p.E244D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			5	859	+			244			Spectrin 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.732G>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.133|5.133	0.210159|0.210159	0.09757|0.09757	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.42131|.	0.98;0.98;0.98|.	5.46|5.46	4.59|4.59	0.56863|0.56863	.|.	0.062472|.	0.64402|.	D|.	0.000007|.	T|T	0.38772|0.38772	0.1053|0.1053	N|N	0.16368|0.16368	0.405|0.405	0.80722|0.80722	D|D	1|1	B;B;B|.	0.12013|.	0.001;0.005;0.002|.	B;B;B|.	0.15052|.	0.005;0.004;0.012|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.10377|.	T|.	0.69|.	.|.	8.7289|8.7289	0.34487|0.34487	0.2098:0.0:0.7902:0.0|0.2098:0.0:0.7902:0.0	.|.	244;244;244|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	D|I	244|222	ENSP00000418611:E244D;ENSP00000240874:E244D;ENSP00000353109:E244D|.	ENSP00000240874:E244D|.	E|S	+|+	3|2	2|0	KALRN|KALRN	125470561|125470561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.132000|1.132000	0.31418|0.31418	1.529000|1.529000	0.49120|0.49120	0.655000|0.655000	0.94253|0.94253	GAG|AGC		0.627	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		15	10	1	0	4.14922e-12	0.004007	5.25513e-12	15	10				
KALRN	8997	broad.mit.edu	37	3	124356145	124356145	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124356145A>C	ENST00000291478.5	+	4	728	c.565A>C	c.(565-567)Aag>Cag	p.K189Q	KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000360013.3_Missense_Mutation_p.K1886Q|KALRN_ENST00000459915.1_5'UTR	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1885					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTCAAAAACAAGCTGGTAAG	0.522																																							uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5656-5658)AAG>CAG		kalirin, RhoGEF kinase isoform 1							114.0	118.0	117.0					3																	124356145		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124356145A>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.565A>C	3.37:g.124356145A>C	ENSP00000291478:p.Lys189Gln					KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Missense_Mutation_p.K189Q|KALRN_uc011bjz.1_5'UTR|KALRN_uc003ehj.2_Intron	p.K1886Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			37	5783	+			1885					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.5656A>C	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.765506	0.69878	.	.	ENSG00000160145	ENST00000360013;ENST00000291478	T;T	0.62232	0.06;0.04	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76071	0.941;0.987	T	0.80077	-0.1533	10	0.54805	T	0.06	.	14.7805	0.69764	1.0:0.0:0.0:0.0	.	189;1885	C9JQ37;O60229	.;KALRN_HUMAN	Q	1886;189	ENSP00000353109:K1886Q;ENSP00000291478:K189Q	ENSP00000291478:K189Q	K	+	1	0	KALRN	125838835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.709000	0.91379	2.143000	0.66587	0.533000	0.62120	AAG		0.522	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		60	48	0	0	0	0.00361	0	60	48				
UMPS	7372	broad.mit.edu	37	3	124461062	124461062	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124461062A>T	ENST00000232607.2	+	5	1328	c.1222A>T	c.(1222-1224)Atg>Ttg	p.M408L	UMPS_ENST00000536109.1_Missense_Mutation_p.M316L|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Missense_Mutation_p.M230L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	408	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CCGAGTAAGCATGAAACCAGA	0.408																																							uc003ehl.3		NA																	0				kidney(1)	1						c.(1222-1224)ATG>TTG		uridine monophosphate synthase							183.0	184.0	184.0					3																	124461062		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124461062A>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1222A>T	3.37:g.124461062A>T	ENSP00000232607:p.Met408Leu					UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.M230L|UMPS_uc011bkb.1_Missense_Mutation_p.M316L|UMPS_uc011bkc.1_Missense_Mutation_p.M230L|UMPS_uc003ehn.3_Missense_Mutation_p.M230L|UMPS_uc011bkd.1_Intron	p.M408L	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	5	1328	+			408			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.1222A>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759699	0.31137	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242	T;T;T	0.61392	0.11;0.11;0.11	5.71	3.3	0.37823	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.887861	0.10183	N	0.705599	T	0.44644	0.1303	L	0.39898	1.24	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.15484	0.013;0.002	T	0.31806	-0.9930	10	0.27785	T	0.31	-5.0383	4.897	0.13755	0.6656:0.1666:0.1678:0.0	.	230;408	B5LY70;P11172	.;UMPS_HUMAN	L	408;316;230	ENSP00000232607:M408L;ENSP00000443577:M316L;ENSP00000444988:M230L	ENSP00000232607:M408L	M	+	1	0	UMPS	125943752	0.649000	0.27322	0.999000	0.59377	0.993000	0.82548	0.462000	0.21956	0.950000	0.37743	0.533000	0.62120	ATG		0.408	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		80	89	0	0	0	0.00361	0	80	89				
MUC13	56667	broad.mit.edu	37	3	124646687	124646687	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124646687G>T	ENST00000311075.3	-	2	241	c.203C>A	c.(202-204)cCt>cAt	p.P68H	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	69	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGGGGAGCAGGTGAAGTAGC	0.453																																							uc003ehq.1		NA																	0					0						c.(202-204)CCT>CAT		mucin 13, epithelial transmembrane							240.0	243.0	242.0					3																	124646687		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646687G>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.203C>A	3.37:g.124646687G>T	ENSP00000312235:p.Pro68His						p.P68H	NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN			2	227	-			68			Thr-rich.|Extracellular (Potential).		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.203C>A		.	.	.	.	.	.	.	.	.	.	g	8.816	0.936428	0.18206	.	.	ENSG00000173702	ENST00000311075	T	0.14893	2.47	2.82	0.929	0.19449	.	2.401790	0.02189	N	0.061181	T	0.20618	0.0496	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.56042	0.79	T	0.11767	-1.0574	10	0.72032	D	0.01	0.114	4.1425	0.10200	0.1422:0.2417:0.6161:0.0	.	68	Q9H3R2	MUC13_HUMAN	H	68	ENSP00000312235:P68H	ENSP00000312235:P68H	P	-	2	0	MUC13	126129377	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.300000	0.19156	0.237000	0.21200	0.508000	0.49915	CCT		0.453	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		58	187	1	0	4.88506e-25	0.00361	7.75037e-25	58	187				
HEG1	57493	broad.mit.edu	37	3	124746174	124746174	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:124746174A>T	ENST00000311127.4	-	3	855	c.788T>A	c.(787-789)cTt>cAt	p.L263H		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	263					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAAAGCAGGAAGAAAGGACGG	0.562																																							uc003ehs.3		NA																	0				ovary(2)	2						c.(787-789)CTT>CAT		HEG homolog 1 precursor							58.0	62.0	61.0					3																	124746174		1987	4155	6142	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746174A>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.788T>A	3.37:g.124746174A>T	ENSP00000311502:p.Leu263His					HEG1_uc011bke.1_Missense_Mutation_p.L263H	p.L263H	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			3	856	-			263			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.788T>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	5.438	0.265992	0.10294	.	.	ENSG00000173706	ENST00000311127	T	0.42131	0.98	4.37	-1.1	0.09872	.	.	.	.	.	T	0.27098	0.0664	L	0.41236	1.265	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.15052	0.012;0.005	T	0.31392	-0.9945	9	0.52906	T	0.07	.	0.8374	0.01142	0.3885:0.1744:0.0993:0.3378	.	263;263	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	H	263	ENSP00000311502:L263H	ENSP00000311502:L263H	L	-	2	0	HEG1	126228864	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-0.611000	0.05622	-0.046000	0.13446	0.528000	0.53228	CTT		0.562	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		18	8	0	0	0	0.002299	0	18	8				
ALDH1L1	10840	broad.mit.edu	37	3	125844477	125844477	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:125844477C>A	ENST00000393434.2	-	15	2131	c.1782G>T	c.(1780-1782)gtG>gtT	p.V594V	ALDH1L1_ENST00000452905.2_Silent_p.V493V|ALDH1L1_ENST00000472186.1_Silent_p.V594V|ALDH1L1_ENST00000273450.3_Silent_p.V604V|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	594	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGATCACCACTGTGTTCC	0.572																																							uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1780-1782)GTG>GTT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						90.0	82.0	85.0					3																	125844477		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125844477C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1782G>T	3.37:g.125844477C>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.V493V	p.V594V	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	15	1972	-			594			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.1782G>T	CCDS3034.1																																																																																				0.572	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		15	57	1	0	4.7546e-09	0.004007	5.65871e-09	15	57				
RPN1	6184	broad.mit.edu	37	3	128345673	128345673	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:128345673C>G	ENST00000296255.3	-	6	1087	c.1039G>C	c.(1039-1041)Gac>Cac	p.D347H	RPN1_ENST00000497289.1_Missense_Mutation_p.D175H|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	347					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GCATACTGGTCACCTGAAGGA	0.453			T	EVI1	AML																																		uc003ekr.1		NA		Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				ovary(2)|central_nervous_system(1)	3						c.(1039-1041)GAC>CAC		ribophorin I precursor							205.0	158.0	174.0					3																	128345673		2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128345673C>G		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1039G>C	3.37:g.128345673C>G	ENSP00000296255:p.Asp347His					RPN1_uc011bkq.1_Missense_Mutation_p.D175H	p.D347H	NM_002950	NP_002941	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	6	1115	-			347			Lumenal (Potential).		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.1039G>C	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913974	0.92178	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.86086	0.1547	9	0.52906	T	0.07	-10.8834	19.234	0.93850	0.0:1.0:0.0:0.0	.	347	P04843	RPN1_HUMAN	H	347;175;118;321	.	ENSP00000296255:D347H	D	-	1	0	RPN1	129828363	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.380000	0.79704	2.529000	0.85273	0.591000	0.81541	GAC		0.453	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		13	40	0	0	0	0.00245	0	13	40				
COL6A5	256076	broad.mit.edu	37	3	130188172	130188172	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:130188172G>T	ENST00000432398.2	+	38	7818	c.7324G>T	c.(7324-7326)Gtg>Ttg	p.V2442L	COL6A5_ENST00000265379.6_Missense_Mutation_p.V2442L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2442	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCCATATTTGTGTTTTCCTT	0.438																																							uc010htj.1		NA																	0					0						c.(7324-7326)GTG>TTG		collagen, type XXIX, alpha 1							73.0	60.0	64.0					3																	130188172		1887	4117	6004	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130188172G>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7324G>T	3.37:g.130188172G>T	ENSP00000390895:p.Val2442Leu					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.V481L	p.V2442L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			38	7818	+			2442			VWFA 10.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7324G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.744087|2.744087	0.49151|0.49151	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;D;D	.|0.86097	.|-2.07;-2.07;-2.07;-2.07	5.13|5.13	5.13|5.13	0.70059|0.70059	.|von Willebrand factor, type A (3);	.|0.000000	.|0.45606	.|D	.|0.000341	D|D	0.93298|0.93298	0.7864|0.7864	M|M	0.87827|0.87827	2.91|2.91	0.27488|0.27488	N|N	0.952368|0.952368	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.994	D|D	0.88609|0.88609	0.3155|0.3155	5|10	.|0.72032	.|D	.|0.01	.|.	17.3437|17.3437	0.87304|0.87304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2442;2442	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	F|L	693|2442;2442;385;277	.|ENSP00000390895:V2442L;ENSP00000265379:V2442L;ENSP00000362250:V385L;ENSP00000424968:V277L	.|ENSP00000265379:V2442L	C|V	+|+	2|1	0|0	COL6A5|COL6A5	131670862|131670862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.704000|0.704000	0.40688|0.40688	3.334000|3.334000	0.52097|0.52097	2.388000|2.388000	0.81334|0.81334	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		16	32	1	0	6.72482e-11	0.003163	8.32105e-11	16	32				
COL6A6	131873	broad.mit.edu	37	3	130284285	130284285	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:130284285C>T	ENST00000358511.6	+	3	1140	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A370V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	370	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.		A -> T (in dbSNP:rs9830253).		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATAGAGGGCGCCAGCGACACC	0.547																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1108-1110)GCC>GTC		collagen type VI alpha 6 precursor							117.0	131.0	126.0					3																	130284285		2049	4205	6254	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284285C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1109C>T	3.37:g.130284285C>T	ENSP00000351310:p.Ala370Val						p.A370V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			3	1140	+			370			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1109C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764188	0.49574	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78003	-1.14;-1.14	5.01	5.01	0.66863	von Willebrand factor, type A (3);	0.103399	0.42821	D	0.000652	T	0.80281	0.4594	L	0.54323	1.7	0.42336	D	0.992312	P	0.52692	0.955	P	0.57204	0.815	T	0.76550	-0.2918	10	0.23302	T	0.38	.	11.035	0.47795	0.0:0.9126:0.0:0.0874	.	370	A6NMZ7	CO6A6_HUMAN	V	370	ENSP00000351310:A370V;ENSP00000399236:A370V	ENSP00000351310:A370V	A	+	2	0	COL6A6	131766975	0.998000	0.40836	0.551000	0.28230	0.043000	0.13939	4.381000	0.59587	2.492000	0.84095	0.561000	0.74099	GCC		0.547	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		43	85	0	0	0	0.009718	0	43	85				
MRPL3	11222	broad.mit.edu	37	3	131181700	131181700	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:131181700G>A	ENST00000264995.3	-	10	1061	c.914C>T	c.(913-915)cCt>cTt	p.P305L	MRPL3_ENST00000425847.2_Missense_Mutation_p.P332L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	305					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTATATGCAGGCAGTTTAGA	0.348																																							uc003eoh.2		NA																	0					0						c.(913-915)CCT>CTT		mitochondrial ribosomal protein L3							83.0	85.0	85.0					3																	131181700		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131181700G>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.914C>T	3.37:g.131181700G>A	ENSP00000264995:p.Pro305Leu					MRPL3_uc011blo.1_Missense_Mutation_p.P200L|MRPL3_uc011blp.1_Missense_Mutation_p.P332L	p.P305L	NM_007208	NP_009139	P09001	RM03_HUMAN			10	1078	-			305					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.914C>T	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711419	0.30322	.	.	ENSG00000114686	ENST00000264995;ENST00000425847	T;T	0.44482	0.92;0.92	5.26	5.26	0.73747	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.106321	0.64402	D	0.000004	T	0.50240	0.1604	M	0.79693	2.465	0.80722	D	1	B;B	0.32939	0.222;0.391	B;B	0.38712	0.204;0.28	T	0.53823	-0.8384	10	0.48119	T	0.1	-15.862	12.7144	0.57107	0.0:0.0:0.8351:0.1649	.	332;305	E7ETU7;P09001	.;RM03_HUMAN	L	305;332	ENSP00000264995:P305L;ENSP00000398536:P332L	ENSP00000264995:P305L	P	-	2	0	MRPL3	132664390	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	4.605000	0.61119	2.442000	0.82660	0.585000	0.79938	CCT		0.348	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		28	21	0	0	0	0.002445	0	28	21				
MRPL3	11222	broad.mit.edu	37	3	131208896	131208896	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:131208896C>A	ENST00000264995.3	-	5	644	c.497G>T	c.(496-498)cGg>cTg	p.R166L	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Missense_Mutation_p.R193L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	166					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCAAGTTCCCGGTAAAATTC	0.363																																							uc003eoh.2		NA																	0					0						c.(496-498)CGG>CTG		mitochondrial ribosomal protein L3							65.0	64.0	64.0					3																	131208896		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131208896C>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.497G>T	3.37:g.131208896C>A	ENSP00000264995:p.Arg166Leu					MRPL3_uc011blo.1_Missense_Mutation_p.R61L|MRPL3_uc011blp.1_Missense_Mutation_p.R193L	p.R166L	NM_007208	NP_009139	P09001	RM03_HUMAN			5	661	-			166					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.497G>T	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636200	0.47049	.	.	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669;ENST00000512877	T;T;T;T	0.43688	1.93;1.93;1.93;0.94	5.31	-0.531	0.11894	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.446138	0.24691	N	0.036387	T	0.44074	0.1276	M	0.73598	2.24	0.44036	D	0.996764	B;B	0.22276	0.015;0.067	B;B	0.32342	0.061;0.144	T	0.37244	-0.9714	10	0.39692	T	0.17	-0.0849	12.5056	0.55979	0.0:0.7842:0.0:0.2158	.	193;166	E7ETU7;P09001	.;RM03_HUMAN	L	166;193;61;133	ENSP00000264995:R166L;ENSP00000398536:R193L;ENSP00000422419:R61L;ENSP00000422035:R133L	ENSP00000264995:R166L	R	-	2	0	MRPL3	132691586	0.823000	0.29233	0.987000	0.45799	0.926000	0.56050	-0.104000	0.10923	-0.405000	0.07599	0.462000	0.41574	CGG		0.363	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		15	15	1	0	8.60227e-14	0.004007	1.12183e-13	15	15				
TF	7018	broad.mit.edu	37	3	133485178	133485178	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:133485178C>A	ENST00000402696.3	+	12	1872	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M	TF_ENST00000264998.3_Missense_Mutation_p.L336M	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	463	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CTGGGACAATCTGAAAGGCAA	0.488																																							uc003epu.1		NA																	0				ovary(1)|skin(1)	2						c.(1387-1389)CTG>ATG		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						199.0	194.0	196.0					3																	133485178		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133485178C>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1387C>A	3.37:g.133485178C>A	ENSP00000385834:p.Leu463Met					TF_uc011blt.1_Missense_Mutation_p.L336M|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.L463M	p.L463M	NM_001063	NP_001054	P02787	TRFE_HUMAN			17	3115	+			463			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1387C>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934696	0.34189	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.26223	1.75;1.75	4.87	1.07	0.20283	.	0.061993	0.64402	N	0.000002	T	0.52041	0.1710	M	0.92268	3.29	0.41412	D	0.987748	P	0.50943	0.94	D	0.67900	0.954	T	0.50988	-0.8762	10	0.72032	D	0.01	-15.5239	6.3095	0.21156	0.1325:0.6622:0.0:0.2053	.	463	P02787	TRFE_HUMAN	M	463;336	ENSP00000385834:L463M;ENSP00000264998:L336M	ENSP00000264998:L336M	L	+	1	2	TF	134967868	0.983000	0.35010	0.002000	0.10522	0.416000	0.31233	2.592000	0.46171	0.079000	0.16929	-0.448000	0.05591	CTG		0.488	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		65	139	1	0	7.82978e-24	0.00361	1.22218e-23	65	139				
EPHB1	2047	broad.mit.edu	37	3	134967287	134967287	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:134967287A>C	ENST00000398015.3	+	14	2996	c.2626A>C	c.(2626-2628)Aac>Cac	p.N876H	EPHB1_ENST00000493838.1_Missense_Mutation_p.N437H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	876	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAGATTGTCAACACCCTAGA	0.567																																							uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2626-2628)AAC>CAC		ephrin receptor EphB1 precursor							31.0	37.0	35.0					3																	134967287		2195	4299	6494	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967287A>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2626A>C	3.37:g.134967287A>C	ENSP00000381097:p.Asn876His					EPHB1_uc003equ.2_Missense_Mutation_p.N437H	p.N876H	NM_004441	NP_004432	P54762	EPHB1_HUMAN			14	2846	+			876			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2626A>C	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452722	0.84209	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.82711	-1.64;-1.64	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047493	0.85682	D	0.000000	T	0.82268	0.5000	N	0.21448	0.665	0.58432	D	0.999991	P	0.51240	0.943	P	0.53912	0.737	D	0.85031	0.0917	10	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	876	P54762	EPHB1_HUMAN	H	876;437	ENSP00000381097:N876H;ENSP00000419574:N437H	ENSP00000381097:N876H	N	+	1	0	EPHB1	136449977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.371000	0.80710	0.533000	0.62120	AAC		0.567	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		7	30	0	0	0	0.001984	0	7	30				
A4GNT	51146	broad.mit.edu	37	3	137843458	137843458	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:137843458C>A	ENST00000236709.3	-	3	872	c.671G>T	c.(670-672)gGc>gTc	p.G224V		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	224					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CAACTCAGGGCCTTGGTTGCC	0.468																																							uc003ers.2		NA																	0				central_nervous_system(1)	1						c.(670-672)GGC>GTC		alpha-1,4-N-acetylglucosaminyltransferase							81.0	89.0	86.0					3																	137843458		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843458C>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.671G>T	3.37:g.137843458C>A	ENSP00000236709:p.Gly224Val						p.G224V	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	873	-			224			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.671G>T	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838960	0.71373	.	.	ENSG00000118017	ENST00000236709	D	0.82081	-1.57	5.0	5.0	0.66597	Alpha 1,4-glycosyltransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.93070	0.7794	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94375	0.7599	10	0.62326	D	0.03	-23.4907	18.3008	0.90163	0.0:1.0:0.0:0.0	.	224	Q9UNA3	A4GCT_HUMAN	V	224	ENSP00000236709:G224V	ENSP00000236709:G224V	G	-	2	0	A4GNT	139326148	0.999000	0.42202	1.000000	0.80357	0.862000	0.49288	5.267000	0.65530	2.308000	0.77769	0.563000	0.77884	GGC		0.468	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		21	83	1	0	8.34094e-07	0.008871	9.35694e-07	21	83				
PRR23B	389151	broad.mit.edu	37	3	138738889	138738889	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:138738889A>G	ENST00000329447.5	-	1	879	c.615T>C	c.(613-615)agT>agC	p.S205S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	205	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCTCTCTGAACTGGGGTTGG	0.627																																							uc003esy.1		NA																	0				breast(1)	1						c.(613-615)AGT>AGC		proline rich 23B							39.0	45.0	43.0					3																	138738889		2203	4300	6503	SO:0001819	synonymous_variant	389151							g.chr3:138738889A>G	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.615T>C	3.37:g.138738889A>G							p.S205S	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	880	-			205			Pro-rich.		B2RNV9	Silent	SNP	ENST00000329447.5	37	c.615T>C	CCDS33868.1																																																																																				0.627	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		20	47	0	0	0	0.010504	0	20	47				
COPB2	9276	broad.mit.edu	37	3	139087022	139087022	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:139087022C>T	ENST00000333188.5	-	13	1691	c.1510G>A	c.(1510-1512)Gga>Aga	p.G504R	COPB2_ENST00000507777.1_Missense_Mutation_p.G475R	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	504					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCAGTAACTCCCTCATGTGTT	0.383																																							uc003etf.3		NA																	0				ovary(2)	2						c.(1510-1512)GGA>AGA		coatomer protein complex, subunit beta 2 (beta							130.0	123.0	125.0					3																	139087022		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139087022C>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1510G>A	3.37:g.139087022C>T	ENSP00000329419:p.Gly504Arg					COPB2_uc011bmv.1_Missense_Mutation_p.G475R|COPB2_uc010hui.2_Missense_Mutation_p.G475R	p.G504R	NM_004766	NP_004757	P35606	COPB2_HUMAN			13	1640	-			504					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1510G>A	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231129	0.58777	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D	0.90385	0.03;-2.66	5.97	5.97	0.96955	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	L	0.55103	1.725	0.80722	D	1	B	0.23249	0.082	B	0.28553	0.091	D	0.84410	0.0565	10	0.16420	T	0.52	-19.5879	20.4062	0.99009	0.0:1.0:0.0:0.0	.	504	P35606	COPB2_HUMAN	R	504;475;127	ENSP00000329419:G504R;ENSP00000422295:G475R	ENSP00000329419:G504R	G	-	1	0	COPB2	140569712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.831000	0.97527	0.655000	0.94253	GGA		0.383	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		11	50	0	0	0	0.001855	0	11	50				
COPB2	9276	broad.mit.edu	37	3	139098004	139098004	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:139098004C>T	ENST00000333188.5	-	4	421	c.240G>A	c.(238-240)caG>caA	p.Q80Q	COPB2_ENST00000507777.1_Silent_p.Q51Q|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	80					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACACTCTAATCTGCATGTCAT	0.353																																							uc003etf.3		NA																	0				ovary(2)	2						c.(238-240)CAG>CAA		coatomer protein complex, subunit beta 2 (beta							86.0	84.0	84.0					3																	139098004		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139098004C>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.240G>A	3.37:g.139098004C>T						COPB2_uc011bmv.1_Silent_p.Q51Q|COPB2_uc010hui.2_Silent_p.Q51Q|COPB2_uc011bmw.1_Silent_p.Q80Q	p.Q80Q	NM_004766	NP_004757	P35606	COPB2_HUMAN			4	370	-			80			WD 2.		B4DZI8	Silent	SNP	ENST00000333188.5	37	c.240G>A	CCDS3108.1																																																																																				0.353	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		10	19	0	0	0	0.006214	0	10	19				
CLSTN2	64084	broad.mit.edu	37	3	140185544	140185544	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:140185544C>A	ENST00000458420.3	+	8	1505	c.1315C>A	c.(1315-1317)Ccc>Acc	p.P439T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	439					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						CACCTTTCGCCCCGCGGAGTT	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1315-1317)CCC>ACC		calsyntenin 2 precursor							65.0	58.0	60.0					3																	140185544		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140185544C>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.1315C>A	3.37:g.140185544C>A	ENSP00000402460:p.Pro439Thr	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.P439T	p.P439T	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			8	1505	+			439			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1315C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550453	0.86127	.	.	ENSG00000158258	ENST00000458420	T	0.72505	-0.66	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.83912	0.5357	M	0.82517	2.595	0.80722	D	1	D	0.63880	0.993	D	0.63113	0.911	D	0.86211	0.1625	10	0.87932	D	0	-25.5784	16.2868	0.82725	0.0:1.0:0.0:0.0	.	439	Q9H4D0	CSTN2_HUMAN	T	439	ENSP00000402460:P439T	ENSP00000402460:P439T	P	+	1	0	CLSTN2	141668234	1.000000	0.71417	0.996000	0.52242	0.807000	0.45602	7.651000	0.83577	2.706000	0.92434	0.655000	0.94253	CCC		0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		15	39	1	0	1.5739e-10	0.004007	1.93387e-10	15	39				
CLSTN2	64084	broad.mit.edu	37	3	140251199	140251199	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:140251199A>T	ENST00000458420.3	+	9	1568	c.1378A>T	c.(1378-1380)Aat>Tat	p.N460Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	460					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						CTATGTCATCAATGTGGAGTT	0.383										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1378-1380)AAT>TAT		calsyntenin 2 precursor							146.0	132.0	137.0					3																	140251199		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140251199A>T	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.1378A>T	3.37:g.140251199A>T	ENSP00000402460:p.Asn460Tyr	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.N460Y	p.N460Y	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			9	1568	+			460			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1378A>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517940	0.85495	.	.	ENSG00000158258	ENST00000458420	T	0.73575	-0.76	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85923	0.5810	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86849	0.2022	9	.	.	.	1.0734	13.8675	0.63598	1.0:0.0:0.0:0.0	.	460	Q9H4D0	CSTN2_HUMAN	Y	460	ENSP00000402460:N460Y	.	N	+	1	0	CLSTN2	141733889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.178000	0.69098	0.533000	0.62120	AAT		0.383	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		54	47	0	0	0	0.00361	0	54	47				
RASA2	5922	broad.mit.edu	37	3	141272715	141272715	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:141272715G>T	ENST00000452898.1	+	6	579	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	RASA2_ENST00000286364.3_Missense_Mutation_p.G182W	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	182	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GGCATGCCATGGGTTGCCTCT	0.323																																							uc003etz.1		NA																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(544-546)GGG>TGG		RAS p21 protein activator 2							118.0	119.0	119.0					3																	141272715		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141272715G>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.544G>T	3.37:g.141272715G>T	ENSP00000391677:p.Gly182Trp					RASA2_uc010huq.1_Missense_Mutation_p.G182W|RASA2_uc003eua.1_Missense_Mutation_p.G182W|RASA2_uc011bnc.1_5'UTR	p.G182W	NM_006506	NP_006497	Q15283	RASA2_HUMAN			6	544	+			182			C2 2.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.544G>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.120029	0.77323	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.73681	-0.77;-0.77	5.44	5.44	0.79542	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059586	0.64402	D	0.000003	D	0.89291	0.6673	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.91040	0.4870	10	0.72032	D	0.01	.	19.2583	0.93955	0.0:0.0:1.0:0.0	.	182;182;182	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	W	182	ENSP00000286364:G182W;ENSP00000391677:G182W	ENSP00000286364:G182W	G	+	1	0	RASA2	142755405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.041000	0.89428	2.550000	0.86006	0.557000	0.71058	GGG		0.323	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		27	76	1	0	7.16026e-08	0.002445	8.3071e-08	27	76				
ATR	545	broad.mit.edu	37	3	142232433	142232433	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:142232433C>T	ENST00000350721.4	-	26	4672	c.4551G>A	c.(4549-4551)atG>atA	p.M1517I	ATR_ENST00000383101.3_Missense_Mutation_p.M1453I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1517					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATGCTTCATCATAATGCTAC	0.363								Other conserved DNA damage response genes																															uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(4549-4551)ATG>ATA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							117.0	105.0	109.0					3																	142232433		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142232433C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4551G>A	3.37:g.142232433C>T	ENSP00000343741:p.Met1517Ile						p.M1517I	NM_001184	NP_001175	Q13535	ATR_HUMAN			26	4673	-			1517					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4551G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.997014	0.19043	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.14022	2.54;2.54	5.19	5.19	0.71726	.	0.045586	0.85682	D	0.000000	T	0.08492	0.0211	N	0.12746	0.255	0.52501	D	0.999955	B	0.12630	0.006	B	0.08055	0.003	T	0.14172	-1.0482	10	0.06891	T	0.86	-18.5795	18.6937	0.91593	0.0:1.0:0.0:0.0	.	1517	Q13535	ATR_HUMAN	I	1517;1453	ENSP00000343741:M1517I;ENSP00000372581:M1453I	ENSP00000343741:M1517I	M	-	3	0	ATR	143715123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.302000	0.59092	2.415000	0.81967	0.491000	0.48974	ATG		0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		10	27	0	0	0	0.006214	0	10	27				
ATR	545	broad.mit.edu	37	3	142281082	142281082	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:142281082C>T	ENST00000350721.4	-	4	1283	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	ATR_ENST00000383101.3_Missense_Mutation_p.D388N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	388					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACCTCTGCATCTACCTCAATT	0.313								Other conserved DNA damage response genes																															uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(1162-1164)GAT>AAT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							66.0	67.0	66.0					3																	142281082		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281082C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1162G>A	3.37:g.142281082C>T	ENSP00000343741:p.Asp388Asn						p.D388N	NM_001184	NP_001175	Q13535	ATR_HUMAN			4	1284	-			388					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1162G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121265	0.20877	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.03181	4.02;4.02	5.67	1.86	0.25419	Armadillo-type fold (1);	0.570969	0.18760	N	0.131930	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	10	0.44086	T	0.13	-0.1462	5.6687	0.17711	0.0:0.5807:0.1353:0.284	.	388	Q13535	ATR_HUMAN	N	388;388;69	ENSP00000343741:D388N;ENSP00000372581:D388N	ENSP00000343741:D388N	D	-	1	0	ATR	143763772	0.141000	0.22595	0.001000	0.08648	0.991000	0.79684	0.373000	0.20484	0.060000	0.16281	0.591000	0.81541	GAT		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		6	31	0	0	0	0.001984	0	6	31				
PLSCR4	57088	broad.mit.edu	37	3	145924363	145924363	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:145924363C>A	ENST00000354952.2	-	4	544	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	PLSCR4_ENST00000446574.2_Missense_Mutation_p.G102W|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G102W|PLSCR4_ENST00000493382.1_Missense_Mutation_p.G102W|PLSCR4_ENST00000433593.2_Missense_Mutation_p.G87W	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	102					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GGAGTTGGCCCTGGCATCCAT	0.448																																							uc010huy.2		NA																	0					0						c.(304-306)GGG>TGG		phospholipid scramblase 4 isoform a							128.0	121.0	124.0					3																	145924363		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145924363C>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.304G>T	3.37:g.145924363C>A	ENSP00000347038:p.Gly102Trp					PLSCR4_uc010huz.2_Missense_Mutation_p.G102W|PLSCR4_uc003evt.3_Missense_Mutation_p.G102W|PLSCR4_uc010hva.2_Missense_Mutation_p.G102W|PLSCR4_uc003evu.3_Missense_Mutation_p.G87W	p.G102W	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			4	633	-			102			SH3-binding 3 (Potential).|Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.304G>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815933	0.50527	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000460885;ENST00000476202;ENST00000481701	T;T;T;T;T;T;T;T;T	0.45668	1.84;1.49;1.52;1.84;1.84;1.84;0.89;1.84;1.84	4.33	2.37	0.29283	.	1.178500	0.06136	N	0.671514	T	0.51822	0.1697	L	0.44542	1.39	0.23953	N	0.99637	P;D	0.65815	0.947;0.995	P;P	0.62649	0.541;0.905	T	0.29852	-0.9998	10	0.62326	D	0.03	.	5.3851	0.16215	0.0:0.64:0.1647:0.1952	.	102;102	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	W	102;102;87;102;102;102;102;102;102	ENSP00000347038:G102W;ENSP00000372561:G102W;ENSP00000415605:G87W;ENSP00000399315:G102W;ENSP00000419040:G102W;ENSP00000417896:G102W;ENSP00000420385:G102W;ENSP00000418173:G102W;ENSP00000418419:G102W	ENSP00000347038:G102W	G	-	1	0	PLSCR4	147407053	0.051000	0.20477	0.614000	0.29051	0.938000	0.57974	0.165000	0.16564	0.479000	0.27511	0.650000	0.86243	GGG		0.448	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		49	51	1	0	1.4374e-25	0.00361	2.28989e-25	49	51				
PLSCR4	57088	broad.mit.edu	37	3	145924375	145924375	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:145924375T>A	ENST00000354952.2	-	4	532	c.292A>T	c.(292-294)Aca>Tca	p.T98S	PLSCR4_ENST00000446574.2_Missense_Mutation_p.T98S|PLSCR4_ENST00000383083.2_Missense_Mutation_p.T98S|PLSCR4_ENST00000493382.1_Missense_Mutation_p.T98S|PLSCR4_ENST00000433593.2_Missense_Mutation_p.T83S	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	98	Proline-rich domain (PRD). {ECO:0000250}.				cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GGCATCCATGTTATTGGAACA	0.453																																							uc010huy.2		NA																	0					0						c.(292-294)ACA>TCA		phospholipid scramblase 4 isoform a							130.0	121.0	124.0					3																	145924375		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145924375T>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.292A>T	3.37:g.145924375T>A	ENSP00000347038:p.Thr98Ser					PLSCR4_uc010huz.2_Missense_Mutation_p.T98S|PLSCR4_uc003evt.3_Missense_Mutation_p.T98S|PLSCR4_uc010hva.2_Missense_Mutation_p.T98S|PLSCR4_uc003evu.3_Missense_Mutation_p.T83S	p.T98S	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			4	621	-			98			SH3-binding 3 (Potential).|Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.292A>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	T	0.218	-1.030648	0.02045	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000460885;ENST00000476202;ENST00000481701	T;T;T;T;T;T;T;T;T	0.40225	2.33;1.62;1.62;2.33;2.33;2.02;1.04;2.02;1.04	4.33	-7.31	0.01441	.	1.320840	0.04848	N	0.441834	T	0.17323	0.0416	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.06405	0.001;0.002	T	0.22836	-1.0205	10	0.07644	T	0.81	.	0.9376	0.01348	0.2186:0.3158:0.2219:0.2437	.	98;98	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	S	98;98;83;98;98;98;98;98;98	ENSP00000347038:T98S;ENSP00000372561:T98S;ENSP00000415605:T83S;ENSP00000399315:T98S;ENSP00000419040:T98S;ENSP00000417896:T98S;ENSP00000420385:T98S;ENSP00000418173:T98S;ENSP00000418419:T98S	ENSP00000347038:T98S	T	-	1	0	PLSCR4	147407065	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.408000	0.07169	-1.044000	0.03254	-0.911000	0.02809	ACA		0.453	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		29	67	0	0	0	0.002096	0	29	67				
PLSCR5	389158	broad.mit.edu	37	3	146318153	146318153	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:146318153T>A	ENST00000443512.1	-	2	1114	c.111A>T	c.(109-111)gcA>gcT	p.A37A	PLSCR5_ENST00000492200.1_Silent_p.A37A|PLSCR5_ENST00000482567.1_Silent_p.A37A	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	37	Proline-rich domain (PRD). {ECO:0000250}.									endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCAGCTGCCATGCTTGGTTCC	0.502																																							uc003ewb.2		NA																	0					0						c.(109-111)GCA>GCT		phospholipid scramblase family, member 5							48.0	52.0	50.0					3																	146318153		1869	4103	5972	SO:0001819	synonymous_variant	389158							g.chr3:146318153T>A	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.111A>T	3.37:g.146318153T>A						PLSCR5_uc010hvb.2_Silent_p.A37A|PLSCR5_uc010hvc.2_Silent_p.A37A	p.A37A	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN			2	1115	-			37					B2RXK5	Silent	SNP	ENST00000443512.1	37	c.111A>T	CCDS46931.1																																																																																				0.502	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		5	11	0	0	0	0.000602	0	5	11				
ZIC4	84107	broad.mit.edu	37	3	147108855	147108855	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:147108855C>A	ENST00000383075.3	-	4	1379	c.867G>T	c.(865-867)ggG>ggT	p.G289G	ZIC4_ENST00000473123.1_Silent_p.G289G|ZIC4_ENST00000484399.1_Silent_p.G289G|ZIC4_ENST00000525172.2_Silent_p.G339G|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Silent_p.G327G|ZIC4_ENST00000491672.1_Silent_p.G83G	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGGCGAGCGCCCGTGCACCT	0.662																																							uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(865-867)GGG>GGT		zinc finger protein of the cerebellum 4							31.0	40.0	37.0					3																	147108855		2191	4292	6483	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108855C>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.867G>T	3.37:g.147108855C>A						ZIC4_uc003ewc.1_Silent_p.G219G|ZIC4_uc011bno.1_Silent_p.G339G	p.G289G	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1140	-			289					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.867G>T	CCDS43160.1																																																																																				0.662	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			14	53	1	0	0.000308642	0.003163	0.000326004	14	53				
ZIC1	7545	broad.mit.edu	37	3	147131139	147131139	+	Splice_Site	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:147131139A>C	ENST00000282928.4	+	3	1875		c.e3-1			NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1						adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTATTCCTGCAGGTCCACGAA	0.632																																							uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e3-2		zinc finger protein of the cerebellum 1							66.0	66.0	66.0					3																	147131139		2203	4300	6503	SO:0001630	splice_region_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131139A>C	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1147-1A>C	3.37:g.147131139A>C							p.V383_splice	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			3	1866	+								Q2M3N1	Splice_Site	SNP	ENST00000282928.4	37	c.1147_splice	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007941	0.75046	.	.	ENSG00000152977	ENST00000488404;ENST00000282928	.	.	.	3.37	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8056	0.52152	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZIC1	148613829	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	8.500000	0.90498	1.175000	0.42826	0.379000	0.24179	.		0.632	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	Intron	12	59	0	0	0	0.000978	0	12	59				
COMMD2	51122	broad.mit.edu	37	3	149470067	149470067	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:149470067G>A	ENST00000473414.1	-	2	129	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	25										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCCAAACTCGGCGACCACTG	0.617																																							uc003exk.2		NA																	0					0						c.(73-75)GCC>GCT		COMM domain containing 2							84.0	93.0	90.0					3																	149470067		2203	4300	6503	SO:0001819	synonymous_variant	51122						protein binding	g.chr3:149470067G>A	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.75C>T	3.37:g.149470067G>A							p.A25A	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	122	-			25					Q561V4|Q9H3L5|Q9Y5V1	Silent	SNP	ENST00000473414.1	37	c.75C>T	CCDS3145.1																																																																																				0.617	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		77	54	0	0	0	0.00361	0	77	54				
P2RY14	9934	broad.mit.edu	37	3	150931951	150931952	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:150931951_150931952TG>CT	ENST00000309170.3	-	3	465_466	c.153_154CA>AG	c.(151-156)ccCAgc>ccAGgc	p.S52G	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.S52G	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	52					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTTAGAGCTGGGCACGTAAA	0.436																																							uc003eyr.1		NA																	0				large_intestine(2)|ovary(1)|lung(1)	4						c.(151-156)CCCAGC>CCAGGC		P2Y14 receptor																																				SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931951_150931952TG>CT	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.153_154delinsCT	3.37:g.150931951_150931952delinsCT	ENSP00000308361:p.Ser52Gly					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.S52G	p.S52G	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	631_632	-			52			Cytoplasmic (Potential).		Q8IYT7	Missense_Mutation	DNP	ENST00000309170.3	37	c.153_154CA>AG	CCDS3156.1																																																																																				0.436	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		43	38	0	0	0	0.004672	0	43	38				
MED12L	116931	broad.mit.edu	37	3	151105894	151105894	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:151105894C>T	ENST00000474524.1	+	35	5318	c.5280C>T	c.(5278-5280)acC>acT	p.T1760T	MED12L_ENST00000273432.4_Silent_p.T1620T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1760						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGGAAAAACCACAACAGATG	0.488																																							uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5278-5280)ACC>ACT		mediator of RNA polymerase II transcription,							54.0	51.0	52.0					3																	151105894		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151105894C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5280C>T	3.37:g.151105894C>T						MED12L_uc011bnz.1_Silent_p.T1620T|MED12L_uc003eyy.1_Silent_p.T923T	p.T1760T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		35	5318	+			1760					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5280C>T	CCDS33876.1																																																																																				0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		16	13	0	0	0	0.004007	0	16	13				
SLITRK3	22865	broad.mit.edu	37	3	164907028	164907028	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:164907028G>C	ENST00000475390.1	-	2	2034	c.1591C>G	c.(1591-1593)Cgg>Ggg	p.R531G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R531G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	531					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGGTTGAGCCGGGCCAGGGAT	0.507										HNSCC(40;0.11)																													uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1591-1593)CGG>GGG		slit and trk like 3 protein precursor							56.0	59.0	58.0					3																	164907028		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907028G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1591C>G	3.37:g.164907028G>C	ENSP00000420091:p.Arg531Gly	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R531G	p.R531G	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2035	-			531			Extracellular (Potential).|LRR 12.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1591C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941894	0.34283	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53206	0.63;0.63	5.28	2.31	0.28768	.	0.000000	0.34484	N	0.003923	T	0.59514	0.2199	L	0.43757	1.38	0.46678	D	0.999159	D	0.69078	0.997	D	0.81914	0.995	T	0.61023	-0.7146	10	0.62326	D	0.03	-15.5892	14.842	0.70233	0.0:0.0:0.3572:0.6428	.	531	O94933	SLIK3_HUMAN	G	531	ENSP00000420091:R531G;ENSP00000241274:R531G	ENSP00000241274:R531G	R	-	1	2	SLITRK3	166389722	0.993000	0.37304	0.960000	0.40013	0.994000	0.84299	1.304000	0.33482	0.367000	0.24454	-0.274000	0.10170	CGG		0.507	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		8	26	0	0	0	0.004482	0	8	26				
WDR49	151790	broad.mit.edu	37	3	167319990	167319990	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:167319990C>A	ENST00000308378.3	-	3	482	c.177G>T	c.(175-177)tgG>tgT	p.W59C	WDR49_ENST00000479765.1_Missense_Mutation_p.W400C|WDR49_ENST00000453925.2_Missense_Mutation_p.W112C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	59										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGAGTGGCCCCAAAGGACAC	0.373																																							uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(175-177)TGG>TGT		WD repeat domain 49							80.0	78.0	79.0					3																	167319990		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167319990C>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.177G>T	3.37:g.167319990C>A	ENSP00000311343:p.Trp59Cys					WDR49_uc011bpd.1_Missense_Mutation_p.W112C|WDR49_uc003few.1_Missense_Mutation_p.W400C	p.W59C	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			3	483	-			59					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.177G>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.332371|3.332371	0.60853|0.60853	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000479765;ENST00000453925	.|T;T;T	.|0.59772	.|0.24;0.24;0.24	5.4|5.4	4.51|4.51	0.55191|0.55191	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.485643	.|0.21362	.|N	.|0.075789	T|T	0.50429|0.50429	0.1615|0.1615	N|N	0.01874|0.01874	-0.695|-0.695	0.49915|0.49915	D|D	0.999833|0.999833	.|D;D;D	.|0.76494	.|0.992;0.984;0.999	.|P;P;D	.|0.65443	.|0.899;0.869;0.935	T|T	0.65940|0.65940	-0.6046|-0.6046	5|10	.|0.54805	.|T	.|0.06	.|.	14.9304|14.9304	0.70911|0.70911	0.0:0.8557:0.1443:0.0|0.0:0.8557:0.1443:0.0	.|.	.|112;400;59	.|E7EQK3;E9PDB0;Q8IV35	.|.;.;WDR49_HUMAN	V|C	124|59;400;112	.|ENSP00000311343:W59C;ENSP00000419749:W400C;ENSP00000410863:W112C	.|ENSP00000311343:W59C	G|W	-|-	2|3	0|0	WDR49|WDR49	168802684|168802684	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.893000|0.893000	0.52053|0.52053	1.998000|1.998000	0.40796|0.40796	1.234000|1.234000	0.43709|0.43709	0.557000|0.557000	0.71058|0.71058	GGG|TGG		0.373	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		11	39	1	0	1.58986e-06	0.008291	1.77324e-06	11	39				
GOLIM4	27333	broad.mit.edu	37	3	167747580	167747580	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:167747580T>A	ENST00000470487.1	-	10	2110	c.1421A>T	c.(1420-1422)cAg>cTg	p.Q474L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q446L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	474	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGCTGCTCCTGGTGCTGCGG	0.557																																							uc003ffe.2		NA																	0				breast(4)|skin(1)	5						c.(1420-1422)CAG>CTG		golgi integral membrane protein 4							34.0	38.0	36.0					3																	167747580		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747580T>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1421A>T	3.37:g.167747580T>A	ENSP00000417354:p.Gln474Leu					GOLIM4_uc011bpe.1_Missense_Mutation_p.Q474L|GOLIM4_uc011bpf.1_Missense_Mutation_p.Q446L|GOLIM4_uc011bpg.1_Missense_Mutation_p.Q446L	p.Q474L	NM_014498	NP_055313	O00461	GOLI4_HUMAN			10	1765	-			474			Glu-rich.|Gln-rich.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.1421A>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432470	0.25813	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.06	2.7	0.31948	.	0.959374	0.08761	N	0.897711	T	0.41026	0.1141	L	0.39898	1.24	0.09310	N	1	B;B	0.19073	0.033;0.033	B;B	0.23275	0.045;0.045	T	0.32587	-0.9901	9	0.25751	T	0.34	-1.1795	11.9183	0.52778	0.0:0.0:0.5179:0.4821	.	446;474	F8W785;O00461	.;GOLI4_HUMAN	L	474;446	.	ENSP00000309893:Q446L	Q	-	2	0	GOLIM4	169230274	0.222000	0.23652	0.005000	0.12908	0.004000	0.04260	0.607000	0.24209	0.293000	0.22520	-0.477000	0.04895	CAG		0.557	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			28	37	0	0	0	0.009535	0	28	37				
PRKCI	5584	broad.mit.edu	37	3	170009707	170009707	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:170009707A>T	ENST00000295797.4	+	13	1574	c.1269A>T	c.(1267-1269)gaA>gaT	p.E423D		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TTGCTCCTGAAATTTTAAGAG	0.343																																							uc003fgs.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1267-1269)GAA>GAT		protein kinase C, iota							50.0	51.0	51.0					3																	170009707		2203	4299	6502	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170009707A>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1269A>T	3.37:g.170009707A>T	ENSP00000295797:p.Glu423Asp					PRKCI_uc003fgt.2_5'UTR	p.E423D	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		13	1507	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		423			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1269A>T	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892435	0.72524	.	.	ENSG00000163558	ENST00000295797	T	0.64085	-0.08	5.2	2.84	0.33178	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78157	-0.2313	9	.	.	.	.	7.711	0.28677	0.672:0.0:0.328:0.0	.	423	P41743	KPCI_HUMAN	D	423	ENSP00000295797:E423D	.	E	+	3	2	PRKCI	171492401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.998000	0.29744	0.400000	0.25396	0.477000	0.44152	GAA		0.343	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		19	19	0	0	0	0.010504	0	19	19				
PLD1	5337	broad.mit.edu	37	3	171406666	171406666	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:171406666C>A	ENST00000351298.4	-	14	1465	c.1339G>T	c.(1339-1341)Gtg>Ttg	p.V447L	PLD1_ENST00000340989.4_Splice_Site_p.V447L|PLD1_ENST00000356327.5_Splice_Site_p.V447L|PLD1_ENST00000342215.6_Splice_Site_p.V447L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	447					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTCTCATCACCTTGAGAGGG	0.438																																					NSCLC(149;2174 3517 34058)	NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(1339-1341)GTG>TTG		phospholipase D1 isoform a	Choline(DB00122)						72.0	62.0	65.0					3																	171406666		2203	4300	6503	SO:0001630	splice_region_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171406666C>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1339-1G>T	3.37:g.171406666C>A						PLD1_uc003fht.2_Missense_Mutation_p.V447L	p.V447L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1455	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		447						Missense_Mutation	SNP	ENST00000351298.4	37	c.1339G>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560961	0.86335	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.80746	2.51	0.80722	D	1	P;P	0.45044	0.849;0.772	P;B	0.47206	0.541;0.432	T	0.36359	-0.9751	10	0.56958	D	0.05	-17.6746	19.3161	0.94215	0.0:1.0:0.0:0.0	.	470;447	Q59EA4;Q13393	.;PLD1_HUMAN	L	447	ENSP00000348681:V447L;ENSP00000342793:V447L;ENSP00000339936:V447L;ENSP00000340326:V447L	ENSP00000340326:V447L	V	-	1	0	PLD1	172889360	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	7.752000	0.85141	2.635000	0.89317	0.655000	0.94253	GTG		0.438	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	Missense_Mutation	10	23	1	0	0.000673444	0.008291	0.000705548	10	23				
NLGN1	22871	broad.mit.edu	37	3	173999053	173999053	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:173999053C>A	ENST00000457714.1	+	7	2861	c.2432C>A	c.(2431-2433)cCc>cAc	p.P811H	NLGN1_ENST00000361589.4_Missense_Mutation_p.P811H|NLGN1_ENST00000545397.1_Missense_Mutation_p.P811H|NLGN1_ENST00000401917.3_Missense_Mutation_p.P851H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	828					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGCCCCATCCCCATCCCCAC	0.423																																							uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2431-2433)CCC>CAC		neuroligin 1							84.0	78.0	80.0					3																	173999053		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173999053C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2432C>A	3.37:g.173999053C>A	ENSP00000392500:p.Pro811His					NLGN1_uc003fip.1_Missense_Mutation_p.P811H	p.P811H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2855	+	Ovarian(172;0.0025)		828			Cytoplasmic (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2432C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620208	0.46736	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.6	5.6	0.85130	.	0.137928	0.49305	D	0.000158	T	0.59729	0.2215	N	0.08118	0	0.54753	D	0.999989	D	0.58268	0.982	P	0.50490	0.642	T	0.67473	-0.5662	10	0.59425	D	0.04	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	811	Q8N2Q7-2	.	H	811;811;811;851	ENSP00000392500:P811H;ENSP00000354541:P811H;ENSP00000441108:P811H;ENSP00000385750:P851H	ENSP00000354541:P811H	P	+	2	0	NLGN1	175481747	0.999000	0.42202	0.854000	0.33618	0.977000	0.68977	5.460000	0.66691	2.793000	0.96121	0.591000	0.81541	CCC		0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		22	13	1	0	1.50039e-11	0.001882	1.88181e-11	22	13				
NAALADL2	254827	broad.mit.edu	37	3	175184802	175184802	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:175184802G>T	ENST00000454872.1	+	8	1491	c.1363G>T	c.(1363-1365)Gca>Tca	p.A455S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	455						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCATCACACTGCACACAGTTA	0.388																																							uc003fit.2		NA																	0				pancreas(1)	1						c.(1363-1365)GCA>TCA		N-acetylated alpha-linked acidic dipeptidase 2							212.0	207.0	208.0					3																	175184802		1977	4164	6141	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184802G>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1363G>T	3.37:g.175184802G>T	ENSP00000404705:p.Ala455Ser					NAALADL2_uc003fiu.1_Missense_Mutation_p.A448S|NAALADL2_uc010hwy.1_Missense_Mutation_p.A229S|NAALADL2_uc010hwz.1_Missense_Mutation_p.A49S	p.A455S	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	8	1450	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	455			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1363G>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	5.607	0.296757	0.10622	.	.	ENSG00000177694	ENST00000454872	T	0.39787	1.06	5.58	-2.49	0.06403	Peptidase M28 (1);	0.873151	0.10133	N	0.711861	T	0.22820	0.0551	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.22103	-1.0226	10	0.31617	T	0.26	-0.0096	1.1183	0.01719	0.2985:0.0991:0.1813:0.4211	.	455	Q58DX5	NADL2_HUMAN	S	455	ENSP00000404705:A455S	ENSP00000404705:A455S	A	+	1	0	NAALADL2	176667496	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	-0.629000	0.05508	-0.194000	0.10399	0.585000	0.79938	GCA		0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		41	149	1	0	2.77807e-22	0.003214	4.24726e-22	41	149				
TTC14	151613	broad.mit.edu	37	3	180324138	180324138	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:180324138G>A	ENST00000296015.4	+	8	1159	c.1027G>A	c.(1027-1029)Gct>Act	p.A343T	TTC14_ENST00000382584.4_Missense_Mutation_p.A343T|TTC14_ENST00000412756.2_Missense_Mutation_p.A343T	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	343							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAACGTGGAAGCTTTGGTAGC	0.368																																							uc003fkk.2		NA																	0				ovary(1)	1						c.(1027-1029)GCT>ACT		tetratricopeptide repeat domain 14 isoform a							130.0	127.0	128.0					3																	180324138		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324138G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1027G>A	3.37:g.180324138G>A	ENSP00000296015:p.Ala343Thr					TTC14_uc003fkl.2_Missense_Mutation_p.A343T|TTC14_uc003fkm.2_Missense_Mutation_p.A343T	p.A343T	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1159	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		343			TPR 3.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1027G>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063604	0.93898	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.62105	0.05;0.05;0.05	5.71	4.82	0.62117	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.992;0.992;0.972	T	0.82822	-0.0267	10	0.72032	D	0.01	-12.9029	16.5083	0.84278	0.0:0.1311:0.8689:0.0	.	343;343;343	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	T	343	ENSP00000296015:A343T;ENSP00000413743:A343T;ENSP00000372027:A343T	ENSP00000296015:A343T	A	+	1	0	TTC14	181806832	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.859000	0.99545	1.370000	0.46153	0.655000	0.94253	GCT		0.368	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		19	48	0	0	0	0.007413	0	19	48				
SOX2	6657	broad.mit.edu	37	3	181430578	181430578	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:181430578G>C	ENST00000325404.1	+	1	857	c.430G>C	c.(430-432)Ggg>Cgg	p.G144R	SOX2_ENST00000431565.2_Missense_Mutation_p.G144R	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	144					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GAGCGGGGTCGGGGTGGGCGC	0.677			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																uc003fkx.2		NA		Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			NSCLC|oesophageal squamous carcinoma		0					0						c.(430-432)GGG>CGG		sex-determining region Y-box 2							8.0	10.0	9.0					3																	181430578		2169	4246	6415	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430578G>C	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.430G>C	3.37:g.181430578G>C	ENSP00000323588:p.Gly144Arg					SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	p.G144R	NM_003106	NP_003097	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	857	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		144					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.430G>C	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947071	0.73672	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.86769	-2.17;-2.17	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.92818	0.7716	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.91188	0.4981	10	0.30854	T	0.27	.	18.2299	0.89931	0.0:0.0:1.0:0.0	.	144	P48431	SOX2_HUMAN	R	144	ENSP00000439111:G144R;ENSP00000323588:G144R	ENSP00000323588:G144R	G	+	1	0	SOX2	182913272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.190000	0.72057	2.597000	0.87782	0.585000	0.79938	GGG		0.677	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		7	14	0	0	0	0.00308	0	7	14				
MCF2L2	23101	broad.mit.edu	37	3	183014772	183014772	+	Missense_Mutation	SNP	C	C	T	rs200226889		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183014772C>T	ENST00000328913.3	-	12	1786	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000414362.2_Missense_Mutation_p.D497N|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D497N|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D497N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	497							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTTTGCATCGAGGGTGAGC	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21883	0.0		0.0	False		,,,				2504	0.0						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(1489-1491)GAT>AAT		Rho family guanine-nucleotide exchange factor							87.0	76.0	80.0					3																	183014772		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183014772C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1489G>A	3.37:g.183014772C>T	ENSP00000328118:p.Asp497Asn					MCF2L2_uc003flj.1_Missense_Mutation_p.D497N|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank	p.D497N	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		12	1579	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		497					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1489G>A	CCDS3243.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	35	5.437264	0.96168	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.05996	4.54;4.54;3.69;3.36	4.66	4.66	0.58398	.	0.130811	0.50627	D	0.000114	T	0.23649	0.0572	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.64506	0.75;0.926	T	0.01001	-1.1485	10	0.87932	D	0	.	17.7581	0.88456	0.0:1.0:0.0:0.0	.	497;497	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	N	497	ENSP00000328118:D497N;ENSP00000420070:D497N;ENSP00000388190:D497N;ENSP00000414131:D497N	ENSP00000328118:D497N	D	-	1	0	MCF2L2	184497466	1.000000	0.71417	0.065000	0.19835	0.313000	0.28021	6.526000	0.73799	2.421000	0.82119	0.655000	0.94253	GAT		0.512	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		11	48	0	0	0	0.000978	0	11	48				
ABCC5	10057	broad.mit.edu	37	3	183696421	183696421	+	Missense_Mutation	SNP	C	C	A	rs370934485		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183696421C>A	ENST00000334444.6	-	9	1406	c.1166G>T	c.(1165-1167)cGt>cTt	p.R389L	ABCC5_ENST00000265586.6_Missense_Mutation_p.R389L|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	389	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CAATATCCGACGCTCCTCCTC	0.473																																							uc003fmg.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1165-1167)CGT>CTT		ATP-binding cassette, sub-family C, member 5							78.0	90.0	86.0					3																	183696421		1985	4170	6155	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183696421C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1166G>T	3.37:g.183696421C>A	ENSP00000333926:p.Arg389Leu					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.R389L	p.R389L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1331	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		389			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1166G>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295814	0.81025	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89681	-2.55;-2.55	5.7	4.81	0.61882	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.051945	0.85682	N	0.000000	D	0.84388	0.5461	L	0.27053	0.805	0.80722	D	1	P;B	0.41345	0.746;0.001	P;B	0.47603	0.551;0.013	T	0.80937	-0.1159	10	0.02654	T	1	-9.3184	15.7663	0.78128	0.1375:0.8625:0.0:0.0	.	389;389	Q86UX3;O15440	.;MRP5_HUMAN	L	389;325;389	ENSP00000333926:R389L;ENSP00000265586:R389L	ENSP00000265586:R389L	R	-	2	0	ABCC5	185179115	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	5.995000	0.70631	1.351000	0.45789	0.650000	0.86243	CGT		0.473	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		12	35	1	0	6.40141e-05	0.000978	6.88944e-05	12	35				
AP2M1	1173	broad.mit.edu	37	3	183896818	183896818	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183896818A>G	ENST00000292807.5	+	3	396	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	AP2M1_ENST00000411763.2_Missense_Mutation_p.Y108C|AP2M1_ENST00000439647.1_Missense_Mutation_p.Y83C|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.Y83C	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	83					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAATTCCTCTATAAGATGTGT	0.483																																							uc011bqx.1		NA																	0					0						c.(247-249)TAT>TGT		adaptor-related protein complex 2, mu 1 subunit							136.0	139.0	138.0					3																	183896818		2079	4225	6304	SO:0001583	missense	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183896818A>G	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.248A>G	3.37:g.183896818A>G	ENSP00000292807:p.Tyr83Cys					AP2M1_uc003fmw.2_Missense_Mutation_p.Y83C|AP2M1_uc003fmx.2_Missense_Mutation_p.Y83C|AP2M1_uc003fmy.2_Missense_Mutation_p.Y83C|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank	p.Y83C	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	405	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		83					A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.248A>G	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357451	0.82243	.	.	ENSG00000161203	ENST00000382456;ENST00000427072;ENST00000411763;ENST00000292807;ENST00000539646;ENST00000448139;ENST00000455925;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.64991	-0.12;-0.13;-0.11;-0.12	5.65	5.65	0.86999	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	L	0.45581	1.43	0.80722	D	1	D;P;P	0.53151	0.958;0.915;0.877	P;P;P	0.58873	0.847;0.592;0.762	T	0.73307	-0.4024	10	0.66056	D	0.02	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	83;108;83	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	C	83;106;108;83;70;85;83;83;83;83	ENSP00000371894:Y83C;ENSP00000403362:Y108C;ENSP00000292807:Y83C;ENSP00000409081:Y83C	ENSP00000292807:Y83C	Y	+	2	0	AP2M1	185379512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.371000	0.80710	0.533000	0.62120	TAT		0.483	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		44	94	0	0	0	0.002852	0	44	94				
AP2M1	1173	broad.mit.edu	37	3	183899836	183899836	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:183899836G>A	ENST00000292807.5	+	9	1111		c.e9+1		AP2M1_ENST00000411763.2_Splice_Site|AP2M1_ENST00000461733.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Splice_Site|AP2M1_ENST00000382456.3_Splice_Site	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGATCGAGGTGAGGACAGG	0.532																																							uc011bqx.1		NA																	0					0						c.e9+1		adaptor-related protein complex 2, mu 1 subunit							44.0	46.0	46.0					3																	183899836		2011	4175	6186	SO:0001630	splice_region_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183899836G>A	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.963+1G>A	3.37:g.183899836G>A						AP2M1_uc003fmw.2_Splice_Site_p.E319_splice|AP2M1_uc003fmx.2_Splice_Site_p.E249_splice|AP2M1_uc003fmy.2_Splice_Site_p.E319_splice|AP2M1_uc011bqy.1_Splice_Site_p.E191_splice|AP2M1_uc011bqz.1_Splice_Site_p.E137_splice	p.E321_splice	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1120	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)							A6NE12|D3DNT1|P20172|P53679	Splice_Site	SNP	ENST00000292807.5	37	c.963_splice	CCDS43177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.79|18.79	3.698737|3.698737	0.68501|0.68501	.|.	.|.	ENSG00000161203|ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000442686|ENST00000432591	.|T	.|0.27256	.|1.68	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49029	.|0.1533	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10520	.|-1.0626	.|5	.|.	.|.	.|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|M	-1|251	.|ENSP00000395438:V251M	.|.	.|V	+|+	.|1	.|0	AP2M1|AP2M1	185382530|185382530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	7.654000|7.654000	0.83653|0.83653	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	.|GTG		0.532	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068	Intron	5	23	0	0	0	0.000602	0	5	23				
EIF4G1	1981	broad.mit.edu	37	3	184045040	184045040	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:184045040A>T	ENST00000346169.2	+	24	3736	c.3465A>T	c.(3463-3465)ggA>ggT	p.G1155G	EIF4G1_ENST00000319274.6_Silent_p.G1155G|EIF4G1_ENST00000411531.1_Silent_p.G1116G|EIF4G1_ENST00000382330.3_Silent_p.G1162G|EIF4G1_ENST00000392537.2_Silent_p.G1068G|EIF4G1_ENST00000414031.1_Silent_p.G1115G|EIF4G1_ENST00000435046.2_Silent_p.G959G|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000342981.4_Silent_p.G1156G|EIF4G1_ENST00000441154.1_Silent_p.G992G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.G960G|EIF4G1_ENST00000352767.3_Silent_p.G1162G|EIF4G1_ENST00000350481.5_Silent_p.G991G|EIF4G1_ENST00000424196.1_Silent_p.G1162G|EIF4G1_ENST00000427845.1_Silent_p.G1069G	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1155					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|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)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAAGCTGGAGACCGAGGAG	0.577																																							uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3463-3465)GGA>GGT		eukaryotic translation initiation factor 4							52.0	56.0	54.0					3																	184045040		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045040A>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3465A>T	3.37:g.184045040A>T						EIF4G1_uc003fnt.2_Silent_p.G866G|EIF4G1_uc003fnq.2_Silent_p.G1068G|EIF4G1_uc003fnr.2_Silent_p.G991G|EIF4G1_uc010hxx.2_Silent_p.G1162G|EIF4G1_uc003fns.2_Silent_p.G1115G|EIF4G1_uc010hxy.2_Silent_p.G1162G|EIF4G1_uc003fnv.3_Silent_p.G1156G|EIF4G1_uc003fnu.3_Silent_p.G1155G|EIF4G1_uc003fnw.2_Silent_p.G1162G|EIF4G1_uc003fnx.2_Silent_p.G960G|EIF4G1_uc003fny.3_Silent_p.G959G|EIF4G1_uc003foa.2_5'Flank	p.G1155G	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		24	3663	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1155					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.3465A>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496391	0.26861	.	.	ENSG00000114867	ENST00000448284	.	.	.	5.2	4.33	0.51752	.	.	.	.	.	T	0.59390	0.2190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57112	-0.7867	4	.	.	.	-20.1304	8.7763	0.34765	0.0794:0.1502:0.7704:0.0	.	.	.	.	V	209	.	.	E	+	2	0	EIF4G1	185527734	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.488000	0.22371	1.423000	0.47198	-0.132000	0.14878	GAG		0.577	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		21	48	0	0	0	0.008871	0	21	48				
C3orf70	285382	broad.mit.edu	37	3	184801010	184801010	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:184801010G>T	ENST00000335012.2	-	2	728	c.538C>A	c.(538-540)Cac>Aac	p.H180N		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	180										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GAAGAGCAGTGATCTATTTTT	0.498																																							uc003fpd.2		NA																	0					0						c.(538-540)CAC>AAC		hypothetical protein LOC285382							115.0	112.0	113.0					3																	184801010		2203	4300	6503	SO:0001583	missense	285382							g.chr3:184801010G>T		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.538C>A	3.37:g.184801010G>T	ENSP00000334974:p.His180Asn						p.H180N	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			2	729	-			180					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.538C>A	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117716	0.77323	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.37	4.5	0.54988	.	0.093381	0.64402	D	0.000001	T	0.47229	0.1434	L	0.27053	0.805	0.58432	D	0.999995	P	0.46912	0.886	P	0.46825	0.528	T	0.52426	-0.8577	9	0.87932	D	0	-22.8636	13.7515	0.62910	0.0749:0.0:0.9251:0.0	.	180	A6NLC5	CC070_HUMAN	N	180	.	ENSP00000334974:H180N	H	-	1	0	C3orf70	186283704	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	1.285000	0.44548	-0.140000	0.14226	CAC		0.498	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		35	33	1	0	2.20474e-14	0.003755	2.90857e-14	35	33				
CRYGS	1427	broad.mit.edu	37	3	186257313	186257313	+	Missense_Mutation	SNP	G	G	T	rs148842396		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:186257313G>T	ENST00000392499.2	-	3	434	c.95C>A	c.(94-96)aCa>aAa	p.T32K	CRYGS_ENST00000307944.5_Missense_Mutation_p.T32K	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	32	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.			T -> M (in Ref. 2; AA sequence). {ECO:0000305}.	lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		ACTTAGGTATGTGTGGAAATC	0.453																																							uc003fqe.2		NA																	0					0						c.(94-96)ACA>AAA		crystallin, gamma S							109.0	97.0	101.0					3																	186257313		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186257313G>T		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.95C>A	3.37:g.186257313G>T	ENSP00000376287:p.Thr32Lys					CRYGS_uc003fqf.2_Missense_Mutation_p.T32K	p.T32K	NM_017541	NP_060011	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	2	147	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		32	T -> M (in Ref. 2; AA sequence).		Beta/gamma crystallin 'Greek key' 1.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.95C>A	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228849	0.39399	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.75477	-0.94;-0.94	6.17	2.16	0.27623	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.227351	0.20745	U	0.086478	T	0.71178	0.3309	M	0.81341	2.54	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.60120	-0.7325	10	0.35671	T	0.21	.	8.2737	0.31860	0.3033:0.0:0.6967:0.0	.	32	P22914	CRBS_HUMAN	K	32	ENSP00000376287:T32K;ENSP00000312099:T32K	ENSP00000312099:T32K	T	-	2	0	CRYGS	187740007	0.990000	0.36364	0.040000	0.18447	0.958000	0.62258	3.466000	0.53071	0.071000	0.16664	0.655000	0.94253	ACA		0.453	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		31	74	1	0	3.99451e-17	0.009535	5.57789e-17	31	74				
KNG1	3827	broad.mit.edu	37	3	186457126	186457126	+	Missense_Mutation	SNP	G	G	A	rs375543420		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:186457126G>A	ENST00000265023.4	+	9	1260	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	KNG1_ENST00000447445.1_Missense_Mutation_p.D314N|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.D350N|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	350	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GCAAAGCCTAGATTGCAACGC	0.383																																							uc011bsa.1		NA																	0				skin(1)	1						c.(1048-1050)GAT>AAT		kininogen 1 isoform 1	Ouabain(DB01092)						106.0	101.0	103.0					3																	186457126		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186457126G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1048G>A	3.37:g.186457126G>A	ENSP00000265023:p.Asp350Asn					KNG1_uc003fqr.2_Missense_Mutation_p.D350N	p.D350N	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1260	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		350			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1048G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	4.122	0.020953	0.08006	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.25579	1.79;1.79;1.79	4.54	-9.09	0.00717	Proteinase inhibitor I25, cystatin (2);	3.140220	0.00531	N	0.000208	T	0.07143	0.0181	N	0.00841	-1.15	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.22591	-1.0212	10	0.14656	T	0.56	9.2441	8.546	0.33421	0.1181:0.2498:0.5495:0.0826	.	350;350	P01042;P01042-2	KNG1_HUMAN;.	N	350;350;314;338	ENSP00000287611:D350N;ENSP00000265023:D350N;ENSP00000396025:D314N	ENSP00000265023:D350N	D	+	1	0	KNG1	187939820	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-2.539000	0.00937	-4.487000	0.00046	0.557000	0.71058	GAT		0.383	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		14	34	0	0	0	0.003163	0	14	34				
RTP2	344892	broad.mit.edu	37	3	187416361	187416361	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:187416361C>A	ENST00000358241.1	-	2	1031	c.603G>T	c.(601-603)tgG>tgT	p.W201C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	201					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGAAGAGGCACCAGCGAAGAG	0.587																																							uc003fro.1		NA																	0					0						c.(601-603)TGG>TGT		receptor transporting protein 2							88.0	93.0	91.0					3																	187416361		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416361C>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.603G>T	3.37:g.187416361C>A	ENSP00000350976:p.Trp201Cys						p.W201C	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	1032	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		201			Helical; (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.603G>T	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795131	0.50208	.	.	ENSG00000198471	ENST00000358241	T	0.26957	1.7	3.93	3.93	0.45458	.	0.139826	0.34676	N	0.003778	T	0.38453	0.1041	L	0.36672	1.1	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.12319	-1.0552	10	0.62326	D	0.03	-17.48	11.7599	0.51896	0.0:1.0:0.0:0.0	.	201	Q5QGT7	RTP2_HUMAN	C	201	ENSP00000350976:W201C	ENSP00000350976:W201C	W	-	3	0	RTP2	188899055	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.060000	0.41394	2.494000	0.84150	0.462000	0.41574	TGG		0.587	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		29	21	1	0	3.80469e-20	0.009535	5.61701e-20	29	21				
TMEM207	131920	broad.mit.edu	37	3	190147424	190147424	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:190147424C>G	ENST00000354905.2	-	5	467	c.401G>C	c.(400-402)gGc>gCc	p.G134A		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	134						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGGTGGGGAGCCTAAAGGGCC	0.408																																							uc003fsj.2		NA																	0					0						c.(400-402)GGC>GCC		transmembrane protein 207 precursor							123.0	118.0	120.0					3																	190147424		2203	4300	6503	SO:0001583	missense	131920					integral to membrane		g.chr3:190147424C>G	BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.401G>C	3.37:g.190147424C>G	ENSP00000346981:p.Gly134Ala						p.G134A	NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)	5	468	-	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		134						Missense_Mutation	SNP	ENST00000354905.2	37	c.401G>C	CCDS3297.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395051	0.42512	.	.	ENSG00000198398	ENST00000354905	T	0.45668	0.89	5.72	2.98	0.34508	.	0.619156	0.14260	N	0.330895	T	0.40619	0.1124	L	0.47716	1.5	0.09310	N	1	P	0.51351	0.944	P	0.48270	0.572	T	0.14783	-1.0460	10	0.39692	T	0.17	-4.7929	7.7776	0.29046	0.0:0.7406:0.0:0.2594	.	134	Q6UWW9	TM207_HUMAN	A	134	ENSP00000346981:G134A	ENSP00000346981:G134A	G	-	2	0	TMEM207	191630118	0.001000	0.12720	0.001000	0.08648	0.070000	0.16714	0.457000	0.21875	0.355000	0.24131	-0.140000	0.14226	GGC		0.408	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343515.1	NM_207316		36	18	0	0	0	0.004878	0	36	18				
OSTN	344901	broad.mit.edu	37	3	190936625	190936625	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:190936625T>A	ENST00000339051.1	+	2	192	c.192T>A	c.(190-192)ctT>ctA	p.L64L	OSTN-AS1_ENST00000430375.1_RNA|OSTN_ENST00000445281.1_Silent_p.L64L	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	64					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AACTCTTGCTTCTTGATGAAT	0.458																																							uc011bsn.1		NA																	0				pancreas(1)|skin(1)	2						c.(190-192)CTT>CTA		osteocrin precursor							148.0	137.0	141.0					3																	190936625		2203	4300	6503	SO:0001819	synonymous_variant	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190936625T>A	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.192T>A	3.37:g.190936625T>A							p.L64L	NM_198184	NP_937827	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	2	192	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		64					A1A4U3	Silent	SNP	ENST00000339051.1	37	c.192T>A	CCDS3299.1																																																																																				0.458	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		20	42	0	0	0	0.010504	0	20	42				
TNK2	10188	broad.mit.edu	37	3	195594441	195594441	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:195594441G>A	ENST00000333602.6	-	12	3300	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	TNK2_ENST00000428187.1_Missense_Mutation_p.P927S|TNK2_ENST00000381916.2_Missense_Mutation_p.P973S|TNK2_ENST00000392400.1_Missense_Mutation_p.P895S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	895	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ctgggtgggggcagcagcaga	0.716																																							uc003fvu.1		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(2683-2685)CCC>TCC		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						7.0	9.0	8.0					3																	195594441		2082	4111	6193	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195594441G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2683C>T	3.37:g.195594441G>A	ENSP00000329425:p.Pro895Ser					TNK2_uc003fvq.1_Missense_Mutation_p.P302S|TNK2_uc003fvr.1_Missense_Mutation_p.P420S|TNK2_uc003fvs.1_Missense_Mutation_p.P927S|TNK2_uc003fvt.1_Missense_Mutation_p.P973S|TNK2_uc010hzw.1_RNA	p.P895S	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	3226	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	895	Missing (in Ref. 4; AAH08884).		Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.2683C>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951595	0.34471	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.73681	-0.76;-0.77;2.97;-0.75;-0.76	4.66	3.75	0.43078	.	0.448977	0.20295	N	0.095143	T	0.66819	0.2828	N	0.03608	-0.345	0.80722	D	1	D;B;B;P	0.63880	0.993;0.009;0.002;0.7	D;B;B;B	0.72982	0.979;0.009;0.004;0.135	T	0.63341	-0.6659	10	0.20519	T	0.43	.	10.891	0.46996	0.0:0.0:0.8115:0.1885	.	895;973;927;420	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	S	895;973;462;927;895	ENSP00000329425:P895S;ENSP00000371341:P973S;ENSP00000398614:P462S;ENSP00000392546:P927S;ENSP00000376201:P895S	ENSP00000329425:P895S	P	-	1	0	TNK2	197078838	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.082000	0.50128	1.090000	0.41315	0.462000	0.41574	CCC		0.716	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		7	20	0	0	0	0.001984	0	7	20				
CEP19	84984	broad.mit.edu	37	3	196434644	196434644	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:196434644C>A	ENST00000399942.4	-	2	459	c.165G>T	c.(163-165)atG>atT	p.M55I	CEP19_ENST00000409690.3_Missense_Mutation_p.M94I|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	90						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						GAATTTGTTCCATTGTTTCTG	0.433																																							uc011btw.1		NA																	0					0						c.(280-282)ATG>ATT		hypothetical protein LOC84984							210.0	192.0	197.0					3																	196434644		1902	4126	6028	SO:0001583	missense	84984					centriole|spindle pole		g.chr3:196434644C>A	BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.165G>T	3.37:g.196434644C>A	ENSP00000382823:p.Met55Ile						p.M94I	NM_032898	NP_116287	Q96LK0	CEP19_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00301)	3	664	-	all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		90					B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37	c.282G>T		.	.	.	.	.	.	.	.	.	.	C	10.67	1.416364	0.25552	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	4.69	0.59074	.	0.092545	0.85682	D	0.000000	T	0.50051	0.1593	L	0.47716	1.5	0.33605	D	0.602849	B	0.13594	0.008	B	0.09377	0.004	T	0.56872	-0.7907	9	0.23891	T	0.37	-10.9813	14.727	0.69351	0.0:0.9303:0.0:0.0697	.	90	Q96LK0	CEP19_HUMAN	I	94;55	.	ENSP00000382823:M55I	M	-	3	0	CEP19	197919041	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.983000	0.49345	1.490000	0.48466	0.655000	0.94253	ATG		0.433	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		84	69	1	0	6.16549e-39	0.00361	1.08302e-38	84	69				
PAK2	5062	broad.mit.edu	37	3	196547287	196547287	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:196547287G>C	ENST00000327134.3	+	13	1521	c.1199G>C	c.(1198-1200)cGc>cCc	p.R400P		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CAGAGCAAACGCAGTACCATG	0.483																																							uc003fwy.3		NA																	0				ovary(1)|lung(1)	2						c.(1198-1200)CGC>CCC		p21-activated kinase 2							125.0	113.0	117.0					3																	196547287		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196547287G>C	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1199G>C	3.37:g.196547287G>C	ENSP00000314067:p.Arg400Pro						p.R400P	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	13	1521	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		400			Protein kinase.		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.1199G>C	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.284598|4.284598	0.80803|0.80803	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000426668|ENST00000327134	.|T	.|0.64991	.|-0.13	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.056303	.|0.64402	.|D	.|0.000001	T|T	0.78898|0.78898	0.4356|0.4356	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.81295|0.81295	-0.0997|-0.0997	5|10	.|0.72032	.|D	.|0.01	.|.	18.1858|18.1858	0.89792|0.89792	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|400	.|Q13177	.|PAK2_HUMAN	P|P	143|400	.|ENSP00000314067:R400P	.|ENSP00000314067:R400P	A|R	+|+	1|2	0|0	PAK2|PAK2	198031684|198031684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.208000|9.208000	0.95075|0.95075	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.483	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		51	42	0	0	0	0.00361	0	51	42				
IQCG	84223	broad.mit.edu	37	3	197618359	197618359	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:197618359C>T	ENST00000265239.6	-	11	1579	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	IQCG_ENST00000455191.1_Silent_p.K385K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	385						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTTTTACCTTCTTCTTGCTCC	0.368																																							uc003fyo.2		NA																	0					0						c.(1153-1155)AAG>AAA		IQ motif containing G							236.0	226.0	229.0					3																	197618359		2203	4299	6502	SO:0001819	synonymous_variant	84223							g.chr3:197618359C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1155G>A	3.37:g.197618359C>T						IQCG_uc003fyn.2_Silent_p.K287K|IQCG_uc003fyp.2_Silent_p.K385K|IQCG_uc003fym.2_Silent_p.K86K	p.K385K	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	10	1301	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		385					Q9BST2|Q9HAG8	Silent	SNP	ENST00000265239.6	37	c.1155G>A	CCDS3331.1																																																																																				0.368	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		18	25	0	0	0	0.001882	0	18	25				
ZNF595	152687	broad.mit.edu	37	4	59446	59446	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:59446C>A	ENST00000509152.2	+	2	312	c.127C>A	c.(127-129)Ctg>Atg	p.L43M	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.L43M			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CCTGGTCTCCCTGGGTGAGGA	0.428																																							uc003fzv.1		NA																	0					0						c.(127-129)CTG>ATG		zinc finger protein 595							358.0	389.0	379.0					4																	59446		2203	4300	6503	SO:0001583	missense	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59446C>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.127C>A	4.37:g.59446C>A	ENSP00000434858:p.Leu43Met					ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.L43M|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Translation_Start_Site|ZNF595_uc011but.1_Intron	p.L43M	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	283	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	43						Missense_Mutation	SNP	ENST00000509152.2	37	c.127C>A		.	.	.	.	.	.	.	.	.	.	C	14.98	2.696247	0.48202	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.02682	4.2;4.2	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.10981	0.0268	.	.	.	0.26227	N	0.979063	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.07290	-1.0780	8	0.87932	D	0	.	7.9738	0.30143	0.0:1.0:0.0:0.0	.	43;43	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	M	43	ENSP00000434858:L43M;ENSP00000437878:L43M	ENSP00000434858:L43M	L	+	1	2	ZNF595	49446	0.687000	0.27671	0.645000	0.29479	0.245000	0.25701	0.674000	0.25218	0.655000	0.30866	0.484000	0.47621	CTG		0.428	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		77	208	1	0	1.58458e-29	0.00361	2.62828e-29	77	208				
ZNF141	7700	broad.mit.edu	37	4	367427	367427	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:367427G>T	ENST00000240499.7	+	4	1350	c.1201G>T	c.(1201-1203)Ggc>Tgc	p.G401C	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	401					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAAGAATGTGGCAAAGCCTT	0.393																																							uc003gaa.2		NA																	0					0						c.(1201-1203)GGC>TGC		zinc finger protein 141							65.0	71.0	69.0					4																	367427		2203	4299	6502	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367427G>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1201G>T	4.37:g.367427G>T	ENSP00000240499:p.Gly401Cys					ZNF141_uc003gab.2_Intron	p.G401C	NM_003441	NP_003432	Q15928	ZN141_HUMAN			5	1379	+			401			C2H2-type 9.		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1201G>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844851	0.71603	.	.	ENSG00000131127	ENST00000240499	T	0.07800	3.16	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39384	0.1076	H	0.98155	4.16	0.27839	N	0.941183	D	0.89917	1.0	D	0.75020	0.985	T	0.25398	-1.0133	8	.	.	.	.	7.8922	0.29684	0.0:0.0:1.0:0.0	.	401	Q15928	ZN141_HUMAN	C	401	ENSP00000240499:G401C	.	G	+	1	0	ZNF141	357427	1.000000	0.71417	0.907000	0.35723	0.985000	0.73830	3.761000	0.55242	0.591000	0.29711	0.313000	0.20887	GGC		0.393	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		17	60	1	0	3.45872e-05	0.004007	3.74953e-05	17	60				
GAK	2580	broad.mit.edu	37	4	905555	905555	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:905555C>A	ENST00000314167.4	-	4	398	c.288G>T	c.(286-288)ccG>ccT	p.P96P	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGACAATGTTCGGGTGGCCGG	0.448																																							uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(286-288)CCG>CCT		cyclin G associated kinase							96.0	93.0	94.0					4																	905555		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:905555C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.288G>T	4.37:g.905555C>A						GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_5'UTR	p.P96P	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	4	487	-			96			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.288G>T	CCDS3340.1																																																																																				0.448	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		62	35	1	0	7.05995e-25	0.00361	1.11826e-24	62	35				
RNF212	285498	broad.mit.edu	37	4	1079701	1079701	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:1079701C>G	ENST00000433731.2	-	5	406	c.345G>C	c.(343-345)caG>caC	p.Q115H	RNF212_ENST00000382968.5_Missense_Mutation_p.Q115H			Q495C1	RN212_HUMAN	ring finger protein 212	115					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GTTGTTCTATCTGCAGCACTG	0.498																																							uc003gcj.2		NA																	0					0						c.(343-345)CAG>CAC		ring finger protein 212 isoform a							114.0	115.0	115.0					4																	1079701		2201	4300	6501	SO:0001583	missense	285498						zinc ion binding	g.chr4:1079701C>G	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.345G>C	4.37:g.1079701C>G	ENSP00000389709:p.Gln115His					RNF212_uc003gci.2_Missense_Mutation_p.Q115H|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_Missense_Mutation_p.Q115H	p.Q115H	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	5	675	-			115			Potential.		C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.345G>C	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492070	0.26774	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	D;D	0.98617	-5.03;-5.03	3.97	2.19	0.27852	.	.	.	.	.	D	0.97929	0.9319	L	0.47716	1.5	0.09310	N	0.999999	P;D;D	0.69078	0.828;0.997;0.994	P;P;P	0.62184	0.474;0.899;0.827	D	0.93479	0.6826	9	0.56958	D	0.05	.	5.7353	0.18063	0.0:0.7412:0.0:0.2588	.	115;115;115	Q495C1-2;Q495C1;Q495C1-5	.;RN212_HUMAN;.	H	115	ENSP00000372428:Q115H;ENSP00000389709:Q115H	ENSP00000372428:Q115H	Q	-	3	2	RNF212	1069701	0.225000	0.23685	0.017000	0.16124	0.345000	0.29048	0.618000	0.24373	0.326000	0.23384	-0.150000	0.13652	CAG		0.498	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		36	100	0	0	0	0.005524	0	36	100				
SH3BP2	6452	broad.mit.edu	37	4	2831327	2831327	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:2831327G>T	ENST00000356331.5	+	8	955	c.694G>T	c.(694-696)Ggt>Tgt	p.G232C	SH3BP2_ENST00000435136.2_Missense_Mutation_p.G232C|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G232C|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G289C|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G260C|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G232C	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	232					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CAAGGGCCCCGGTCCCCTACT	0.687									Cherubism																														uc003gfi.3		NA																	0				central_nervous_system(1)	1						c.(694-696)GGT>TGT		SH3-domain binding protein 2 isoform a							34.0	41.0	39.0					4																	2831327		2203	4299	6502	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831327G>T	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.694G>T	4.37:g.2831327G>T	ENSP00000348685:p.Gly232Cys					SH3BP2_uc011bvp.1_Missense_Mutation_p.G260C|SH3BP2_uc003gfj.3_Missense_Mutation_p.G289C|SH3BP2_uc003gfk.3_Missense_Mutation_p.G232C|SH3BP2_uc003gfl.3_Missense_Mutation_p.G165C|SH3BP2_uc003gfm.3_Missense_Mutation_p.G207C	p.G232C	NM_001122681	NP_001116153	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	814	+			232					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.694G>T	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	g	14.58	2.576798	0.45902	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.33	-7.73	0.01245	.	0.844140	0.10888	N	0.622983	D	0.93674	0.7979	L	0.48642	1.525	0.09310	N	0.999996	P;D;D;D;P	0.76494	0.953;0.999;0.999;0.993;0.941	P;P;D;P;P	0.65773	0.741;0.869;0.938;0.85;0.673	D	0.88823	0.3300	10	0.59425	D	0.04	-8.6249	9.3631	0.38208	0.6322:0.0:0.2689:0.0989	.	260;207;207;289;232	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	C	232;260;232;232;289;232	ENSP00000409746:G232C;ENSP00000388152:G260C;ENSP00000403231:G232C;ENSP00000424846:G232C;ENSP00000422168:G289C;ENSP00000348685:G232C	ENSP00000348685:G232C	G	+	1	0	SH3BP2	2801125	0.000000	0.05858	0.011000	0.14972	0.551000	0.35334	-0.541000	0.06099	-1.272000	0.02427	-0.298000	0.09462	GGT		0.687	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		12	56	1	0	6.40141e-05	0.000978	6.88944e-05	12	56				
HTT	3064	broad.mit.edu	37	4	3129315	3129315	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:3129315C>T	ENST00000355072.5	+	12	1872	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	576					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTTACCCCTTCAGACAGTTCT	0.532																																							uc011bvq.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1732-1734)TCA>TTA		huntingtin							46.0	47.0	47.0					4																	3129315		1933	4130	6063	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3129315C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1727C>T	4.37:g.3129315C>T	ENSP00000347184:p.Ser576Leu						p.S578L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	13	1878	+		all_epithelial(65;0.18)	576					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.1733C>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749264	0.89753	.	.	ENSG00000197386	ENST00000355072	T	0.11604	2.76	4.84	4.84	0.62591	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	L	0.38175	1.15	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	T	0.00986	-1.1490	10	0.66056	D	0.02	.	17.722	0.88355	0.0:1.0:0.0:0.0	.	576	P42858	HD_HUMAN	L	576	ENSP00000347184:S576L	ENSP00000347184:S576L	S	+	2	0	HTT	3099113	1.000000	0.71417	0.805000	0.32314	0.984000	0.73092	7.127000	0.77210	2.533000	0.85409	0.655000	0.94253	TCA		0.532	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		8	68	0	0	0	0.00308	0	8	68				
DOK7	285489	broad.mit.edu	37	4	3478232	3478232	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:3478232C>T	ENST00000340083.5	+	4	560	c.495C>T	c.(493-495)agC>agT	p.S165S	DOK7_ENST00000507039.1_Silent_p.S165S|DOK7_ENST00000389653.2_Silent_p.S165S	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	165	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGTGCCAAGCGGATTCATCT	0.627																																							uc003ghd.2		NA																	0				skin(1)	1						c.(493-495)AGC>AGT		downstream of tyrosine kinase 7 isoform 1							80.0	83.0	82.0					4																	3478232		2203	4299	6502	SO:0001819	synonymous_variant	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3478232C>T	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.495C>T	4.37:g.3478232C>T						DOK7_uc003ghe.2_Missense_Mutation_p.A31V	p.S165S	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	4	565	+			165			IRS-type PTB.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	c.495C>T	CCDS3370.2																																																																																				0.627	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		25	59	0	0	0	0.002096	0	25	59				
WFS1	7466	broad.mit.edu	37	4	6303877	6303877	+	Silent	SNP	C	C	T	rs201731358	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:6303877C>T	ENST00000226760.1	+	8	2525	c.2355C>T	c.(2353-2355)agC>agT	p.S785S	WFS1_ENST00000503569.1_Silent_p.S785S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	785					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CATTCAGCAGCGGCGCTGACG	0.627													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20636	0.001		0.0	False		,,,				2504	0.0						uc003giy.2		NA																	0				central_nervous_system(2)	2						c.(2353-2355)AGC>AGT		wolframin							32.0	33.0	33.0					4																	6303877		2184	4270	6454	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303877C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2355C>T	4.37:g.6303877C>T						WFS1_uc003gix.2_Silent_p.S785S|WFS1_uc003giz.2_Silent_p.S603S	p.S785S	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2521	+			785					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.2355C>T	CCDS3386.1																																																																																				0.627	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			11	26	0	0	0	0.003163	0	11	26				
SH3TC1	54436	broad.mit.edu	37	4	8229720	8229720	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:8229720C>T	ENST00000245105.3	+	12	2366	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y	SH3TC1_ENST00000539824.1_Missense_Mutation_p.H691Y	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	767										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAAACTTCCCACTACCTCAG	0.692																																					NSCLC(145;2298 2623 35616 37297)	NSCLC(145;2298 2623 35616 37297)	uc003gkv.3		NA																	0				large_intestine(2)|pancreas(1)	3						c.(2299-2301)CAC>TAC		SH3 domain and tetratricopeptide repeats 1							32.0	30.0	30.0					4																	8229720		2203	4297	6500	SO:0001583	missense	54436						binding	g.chr4:8229720C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2299C>T	4.37:g.8229720C>T	ENSP00000245105:p.His767Tyr					SH3TC1_uc003gkw.3_Missense_Mutation_p.H691Y|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.H767Y	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	2400	+			767					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2299C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.295442	0.00245	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75938	-0.34;-0.98	4.29	2.5	0.30297	.	0.468562	0.22524	N	0.058925	T	0.52757	0.1754	L	0.27053	0.805	0.09310	N	0.999994	B	0.02656	0.0	B	0.08055	0.003	T	0.35674	-0.9779	10	0.02654	T	1	-11.1423	7.6427	0.28303	0.0:0.6549:0.0:0.3451	.	767	Q8TE82	S3TC1_HUMAN	Y	505;767;691;596	ENSP00000245105:H767Y;ENSP00000441045:H691Y	ENSP00000245105:H767Y	H	+	1	0	SH3TC1	8280620	0.000000	0.05858	0.235000	0.24058	0.113000	0.19764	0.948000	0.29096	0.244000	0.21351	0.462000	0.41574	CAC		0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		23	12	0	0	0	0.00278	0	23	12				
Unknown	0	broad.mit.edu	37	4	8951509	8951509	+	IGR	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:8951509C>A								HMX1 (77966 upstream) : AC073648.1 (73549 downstream)																							GGAACCTCCTCAGTATCCTGG	0.592																																							uc011bwm.1		NA																	0					0						c.(31-33)CTC>CTA		seven transmembrane helix receptor							24.0	44.0	38.0					4																	8951509		681	1590	2271	SO:0001628	intergenic_variant	650293					integral to membrane	olfactory receptor activity	g.chr4:8951509C>A																													4.37:g.8951509C>A							p.L11L	NM_001040071	NP_001035160	Q8NGT4	Q8NGT4_HUMAN			1	33	+			11						Silent	SNP		37	c.33C>A																																																																																				0	0.592									4	11	1	0	0.000602214	0.000602	0.000632636	4	11				
DRD5	1816	broad.mit.edu	37	4	9783861	9783861	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:9783861C>A	ENST00000304374.2	+	1	604	c.208C>A	c.(208-210)Cac>Aac	p.H70N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	70					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCGGAGCCGCCACCTGCGCGC	0.647																																							uc003gmb.3		NA																	0				skin(1)	1						c.(208-210)CAC>AAC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						36.0	29.0	32.0					4																	9783861		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783861C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.208C>A	4.37:g.9783861C>A	ENSP00000306129:p.His70Asn						p.H70N	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	604	+			70			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.208C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	16.95	3.264608	0.59431	.	.	ENSG00000169676	ENST00000304374	T	0.71817	-0.6	4.01	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.053909	0.64402	D	0.000001	T	0.79317	0.4425	L	0.56396	1.775	0.49389	D	0.999785	D	0.76494	0.999	D	0.85130	0.997	T	0.79393	-0.1822	10	0.66056	D	0.02	.	10.669	0.45747	0.0:0.9058:0.0:0.0942	.	70	P21918	DRD5_HUMAN	N	70	ENSP00000306129:H70N	ENSP00000306129:H70N	H	+	1	0	DRD5	9392959	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	5.589000	0.67523	0.893000	0.36288	0.305000	0.20034	CAC		0.647	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			30	18	1	0	1.36615e-20	0.002836	2.03868e-20	30	18				
NKX3-2	579	broad.mit.edu	37	4	13544065	13544065	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:13544065C>A	ENST00000382438.5	-	2	1189	c.554G>T	c.(553-555)gGc>gTc	p.G185V		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	185	Poly-Gly.				determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						cccgctgccgcccccgccgcc	0.771																																							uc003gmx.2		NA																	0					0						c.(553-555)GGC>GTC		NK3 homeobox 2							4.0	5.0	5.0					4																	13544065		1297	2984	4281	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13544065C>A	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.554G>T	4.37:g.13544065C>A	ENSP00000371875:p.Gly185Val						p.G185V	NM_001189	NP_001180	P78367	NKX32_HUMAN			2	630	-			185			Poly-Gly.		Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.554G>T	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414679	0.42817	.	.	ENSG00000109705	ENST00000382438	D	0.92446	-3.04	4.98	-0.464	0.12160	.	0.522484	0.16239	N	0.223237	T	0.77731	0.4174	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.64609	-0.6367	10	0.30854	T	0.27	.	2.6054	0.04877	0.1355:0.3488:0.3521:0.1637	.	185	P78367	NKX32_HUMAN	V	185	ENSP00000371875:G185V	ENSP00000371875:G185V	G	-	2	0	NKX3-2	13153163	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-0.481000	0.06552	-0.121000	0.11787	-0.268000	0.10319	GGC		0.771	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			11	4	1	0	4.68919e-08	0.008291	5.45661e-08	11	4				
BOD1L1	259282	broad.mit.edu	37	4	13602333	13602333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:13602333C>A	ENST00000040738.5	-	10	6326	c.6191G>T	c.(6190-6192)gGt>gTt	p.G2064V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2064						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGATTTTTACCCCCTGCTAA	0.433																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(6190-6192)GGT>GTT		biorientation of chromosomes in cell division							95.0	93.0	94.0					4																	13602333		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602333C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6191G>T	4.37:g.13602333C>A	ENSP00000040738:p.Gly2064Val					BOD1L_uc010idr.1_Missense_Mutation_p.G1401V	p.G2064V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	6308	-			2064					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6191G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660893	0.29515	.	.	ENSG00000038219	ENST00000040738	T	0.07021	3.23	5.47	1.39	0.22231	.	0.940200	0.08962	N	0.868585	T	0.07279	0.0184	L	0.40543	1.245	0.09310	N	1	P	0.36616	0.561	B	0.34242	0.178	T	0.35674	-0.9779	10	0.45353	T	0.12	-2.7691	5.9986	0.19507	0.0:0.5255:0.2533:0.2212	.	2064	Q8NFC6	BOD1L_HUMAN	V	2064	ENSP00000040738:G2064V	ENSP00000040738:G2064V	G	-	2	0	BOD1L	13211431	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.028000	0.12350	0.531000	0.28639	0.555000	0.69702	GGT		0.433	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		10	52	1	0	1.58986e-06	0.008291	1.77324e-06	10	52				
LAP3	51056	broad.mit.edu	37	4	17584016	17584016	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:17584016G>A	ENST00000226299.4	+	4	653	c.379G>A	c.(379-381)Gcg>Acg	p.A127T	LAP3_ENST00000606142.1_Splice_Site_p.A96T	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	127					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGCTGTTGCAGGTTATTTCAC	0.463																																							uc003gph.1		NA																	0					0						c.(379-381)GCG>ACG		leucine aminopeptidase 3							65.0	66.0	66.0					4																	17584016		2203	4300	6503	SO:0001630	splice_region_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17584016G>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.379+1G>A	4.37:g.17584016G>A						LAP3_uc010ieg.2_Intron	p.A127T	NM_015907	NP_056991	P28838	AMPL_HUMAN			4	541	+			127					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.379G>A	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381282	0.95945	.	.	ENSG00000002549	ENST00000226299	T	0.46819	0.86	5.45	5.45	0.79879	Peptidase M17, leucyl aminopeptidase, N-terminal (1);	0.143860	0.64402	D	0.000007	T	0.56659	0.2000	L	0.52759	1.655	0.80722	D	1	P	0.45569	0.861	P	0.57468	0.821	T	0.46693	-0.9173	10	0.02654	T	1	-22.5989	19.6558	0.95837	0.0:0.0:1.0:0.0	.	127	P28838	AMPL_HUMAN	T	127	ENSP00000226299:A127T	ENSP00000226299:A127T	A	+	1	0	LAP3	17193114	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.942000	0.92970	2.719000	0.93026	0.655000	0.94253	GCG		0.463	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1		Missense_Mutation	4	12	0	0	0	0.009096	0	4	12				
GBA3	57733	broad.mit.edu	37	4	22737615	22737615	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:22737615G>A	ENST00000503442.1	+	0	161				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCTGGGATGCAGATGGAAA	0.438																																							uc003gqp.3		NA																	0					0						c.(70-72)GCA>ACA		cytosolic beta-glucosidase isoform a							86.0	88.0	88.0					4																	22737615		1916	4137	6053			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737615G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737615G>A						GBA3_uc010iep.2_Missense_Mutation_p.A24T|GBA3_uc011bxo.1_Missense_Mutation_p.A25T	p.A24T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			2	161	+			24					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.70G>A																																																																																					0.438	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			15	32	0	0	0	0.004007	0	15	32				
GBA3	57733	broad.mit.edu	37	4	22749119	22749119	+	RNA	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:22749119A>C	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGATCACCATAAATGAAGC	0.438																																							uc003gqp.3		NA																	0					0						c.(487-489)ATA>CTA		cytosolic beta-glucosidase isoform a							193.0	192.0	192.0					4																	22749119		1907	4125	6032			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749119A>C	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749119A>C						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.I164L	p.I163L	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	578	+			163					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.487A>C																																																																																					0.438	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			62	40	0	0	0	0.00361	0	62	40				
TBC1D19	55296	broad.mit.edu	37	4	26668003	26668003	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:26668003G>T	ENST00000264866.4	+	9	918	c.640G>T	c.(640-642)Gat>Tat	p.D214Y	TBC1D19_ENST00000511789.1_Missense_Mutation_p.D149Y	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	214							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ACTGGGTATAGATGATTCTAC	0.343																																							uc003gsf.3		NA																	0				breast(1)	1						c.(640-642)GAT>TAT		TBC1 domain family, member 19							160.0	164.0	163.0					4																	26668003		2203	4300	6503	SO:0001583	missense	55296					intracellular	Rab GTPase activator activity	g.chr4:26668003G>T	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.640G>T	4.37:g.26668003G>T	ENSP00000264866:p.Asp214Tyr					TBC1D19_uc010iew.2_Missense_Mutation_p.D214Y|TBC1D19_uc011bxu.1_Missense_Mutation_p.D149Y	p.D214Y	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			9	910	+		Breast(46;0.0503)	214					B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	37	c.640G>T	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630882	0.87660	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789	T;T;T;T	0.51325	0.75;1.26;0.71;1.27	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70716	0.97;0.97;0.97	T	0.69774	-0.5054	10	0.72032	D	0.01	-21.3398	20.0096	0.97446	0.0:0.0:1.0:0.0	.	149;214;214	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	Y	183;214;149;149	ENSP00000427033:D183Y;ENSP00000264866:D214Y;ENSP00000423097:D149Y;ENSP00000425569:D149Y	ENSP00000264866:D214Y	D	+	1	0	TBC1D19	26277101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.472000	0.80996	2.727000	0.93392	0.579000	0.79373	GAT		0.343	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		15	67	1	0	4.75885e-15	0.00499	6.3914e-15	15	67				
PGM2	55276	broad.mit.edu	37	4	37857304	37857304	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:37857304A>T	ENST00000381967.4	+	13	1778	c.1678A>T	c.(1678-1680)Agt>Tgt	p.S560C	PGM2_ENST00000537241.1_Missense_Mutation_p.S400C	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	560					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CATGCGCACCAGTGGGACAGA	0.488																																							uc011byb.1		NA																	0				ovary(1)	1						c.(1678-1680)AGT>TGT		phosphoglucomutase 2							103.0	92.0	96.0					4																	37857304		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37857304A>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1678A>T	4.37:g.37857304A>T	ENSP00000371393:p.Ser560Cys					PGM2_uc011byc.1_Missense_Mutation_p.S400C	p.S560C	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			13	1751	+			560					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1678A>T	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348400	0.82132	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	D;D	0.91124	-2.79;-2.79	5.73	4.54	0.55810	Alpha-D-phosphohexomutase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97355	0.9966	10	0.87932	D	0	-20.5495	13.1485	0.59477	0.8666:0.1334:0.0:0.0	.	560	Q96G03	PGM2_HUMAN	C	560;400	ENSP00000371393:S560C;ENSP00000437342:S400C	ENSP00000371393:S560C	S	+	1	0	PGM2	37533699	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.253000	0.95501	0.991000	0.38814	0.529000	0.55759	AGT		0.488	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		10	39	0	0	0	0.008291	0	10	39				
TLR1	7096	broad.mit.edu	37	4	38798645	38798645	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:38798645T>A	ENST00000502213.2	-	3	2037	c.1808A>T	c.(1807-1809)tAc>tTc	p.Y603F	TLR1_ENST00000308979.2_Missense_Mutation_p.Y603F|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	603					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CAGATCCAAGTAGCTGCAGAG	0.527																																					GBM(5;216 373 40795 46382)	GBM(5;216 373 40795 46382)	uc003gtl.2		NA																	0				lung(2)|skin(2)|prostate(1)	5						c.(1807-1809)TAC>TTC		toll-like receptor 1 precursor							63.0	86.0	78.0					4																	38798645		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798645T>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1808A>T	4.37:g.38798645T>A	ENSP00000421259:p.Tyr603Phe						p.Y603F	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	2082	-			603			Cytoplasmic (Potential).		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.1808A>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.319977	0.60634	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.01998	4.51;4.51	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000011	T	0.10121	0.0248	M	0.83012	2.62	0.26598	N	0.973061	P	0.52577	0.954	P	0.52793	0.709	T	0.01795	-1.1272	10	0.87932	D	0	.	15.7871	0.78315	0.0:0.0:0.0:1.0	.	603	Q15399	TLR1_HUMAN	F	603	ENSP00000354932:Y603F;ENSP00000421259:Y603F	ENSP00000354932:Y603F	Y	-	2	0	TLR1	38475040	0.008000	0.16893	0.462000	0.27118	0.614000	0.37383	0.395000	0.20850	2.197000	0.70478	0.533000	0.62120	TAC		0.527	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			67	52	0	0	0	0.00361	0	67	52				
RFC1	5981	broad.mit.edu	37	4	39343997	39343997	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:39343997C>G	ENST00000381897.1	-	4	432	c.299G>C	c.(298-300)cGg>cCg	p.R100P	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.R100P	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	100					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGATCCTGCCGTGAAATTTT	0.398																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(298-300)CGG>CCG		replication factor C large subunit							137.0	138.0	137.0					4																	39343997		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39343997C>G	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.299G>C	4.37:g.39343997C>G	ENSP00000371321:p.Arg100Pro					RFC1_uc003gtx.1_Missense_Mutation_p.R100P|RFC1_uc003gtz.1_5'UTR	p.R100P	NM_002913	NP_002904	P35251	RFC1_HUMAN			4	433	-			100					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.299G>C	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	c	9.920	1.211831	0.22289	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000503784	T;T	0.29397	1.57;1.57	5.51	2.76	0.32466	.	0.262155	0.41605	D	0.000860	T	0.30230	0.0758	L	0.54323	1.7	0.09310	N	1	P;P	0.42357	0.669;0.777	B;P	0.44772	0.271;0.46	T	0.08534	-1.0717	10	0.33940	T	0.23	-0.2483	7.753	0.28909	0.0:0.6458:0.0:0.3542	.	100;100	P35251;P35251-2	RFC1_HUMAN;.	P	100;100;72	ENSP00000371321:R100P;ENSP00000261424:R100P	ENSP00000261424:R100P	R	-	2	0	RFC1	39020392	0.038000	0.19896	0.002000	0.10522	0.139000	0.21198	0.471000	0.22100	0.336000	0.23639	-0.311000	0.09066	CGG		0.398	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		19	38	0	0	0	0.006122	0	19	38				
RHOH	399	broad.mit.edu	37	4	40245027	40245027	+	Nonsense_Mutation	SNP	C	C	A	rs373809098		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:40245027C>A	ENST00000381799.5	+	3	745	c.21C>A	c.(19-21)tgC>tgA	p.C7*	RHOH_ENST00000505618.1_Nonsense_Mutation_p.C7*	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	7					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCAAGTGCGTGTTGGTGG	0.577																																							uc003guz.2		NA																	0				ovary(1)|lung(1)	2						c.(19-21)TGC>TGA		ras homolog gene family, member H precursor							202.0	156.0	172.0					4																	40245027		2203	4300	6503	SO:0001587	stop_gained	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245027C>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.21C>A	4.37:g.40245027C>A	ENSP00000371219:p.Cys7*						p.C7*	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	745	+			7						Nonsense_Mutation	SNP	ENST00000381799.5	37	c.21C>A	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.510675	0.85389	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000508513;ENST00000503941;ENST00000381799	.	.	.	5.74	-2.69	0.06022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1416	0.65322	0.0:0.4706:0.0:0.5294	.	.	.	.	X	7	.	ENSP00000371219:C7X	C	+	3	2	RHOH	39921422	0.001000	0.12720	0.978000	0.43139	0.694000	0.40290	-1.703000	0.01900	-0.534000	0.06315	-0.751000	0.03497	TGC		0.577	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		30	30	1	0	2.70662e-09	0.009535	3.23523e-09	30	30				
KCTD8	386617	broad.mit.edu	37	4	44450425	44450425	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:44450425G>T	ENST00000360029.3	-	1	399	c.116C>A	c.(115-117)cCc>cAc	p.P39H	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	39					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GAAGGGCGAGGGTGCGCAggg	0.682										HNSCC(17;0.042)																													uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(115-117)CCC>CAC		potassium channel tetramerisation domain							17.0	14.0	15.0					4																	44450425		2088	4114	6202	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450425G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.116C>A	4.37:g.44450425G>T	ENSP00000353129:p.Pro39His	HNSCC(17;0.042)					p.P39H	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	400	-			39					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.116C>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223897	0.22457	.	.	ENSG00000183783	ENST00000360029	T	0.39056	1.1	4.01	2.27	0.28462	.	0.551916	0.16403	N	0.215927	T	0.19287	0.0463	N	0.14661	0.345	0.23769	N	0.996892	P	0.44734	0.842	B	0.31390	0.129	T	0.07888	-1.0749	10	0.54805	T	0.06	.	7.4734	0.27361	0.218:0.0:0.782:0.0	.	39	Q6ZWB6	KCTD8_HUMAN	H	39	ENSP00000353129:P39H	ENSP00000353129:P39H	P	-	2	0	KCTD8	44145182	0.981000	0.34729	0.583000	0.28640	0.405000	0.30901	0.923000	0.28757	0.349000	0.23975	0.467000	0.42956	CCC		0.682	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			15	5	1	0	4.75885e-15	0.00499	6.3914e-15	15	5				
GNPDA2	132789	broad.mit.edu	37	4	44720409	44720409	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:44720409C>A	ENST00000295448.3	-	3	299	c.143G>T	c.(142-144)tGc>tTc	p.C48F	GNPDA2_ENST00000507534.1_5'UTR|GNPDA2_ENST00000507917.1_Intron|GNPDA2_ENST00000509756.1_Missense_Mutation_p.C48F|GNPDA2_ENST00000511187.1_Intron	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	48					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TTTTTTATAGCATCCTAAAGG	0.244																																					Colon(54;743 1010 7604 16453 19544)	Colon(54;743 1010 7604 16453 19544)	uc003gwy.2		NA																	0				ovary(1)	1						c.(142-144)TGC>TTC		glucosamine-6-phosphate deaminase 2							47.0	52.0	50.0					4																	44720409		2128	4165	6293	SO:0001583	missense	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44720409C>A	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.143G>T	4.37:g.44720409C>A	ENSP00000295448:p.Cys48Phe					GNPDA2_uc010iga.2_Intron|GNPDA2_uc011bzb.1_5'UTR|GNPDA2_uc003gwz.1_Missense_Mutation_p.C48F	p.C48F	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			3	300	-			48					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Missense_Mutation	SNP	ENST00000295448.3	37	c.143G>T	CCDS3469.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326730	0.60743	.	.	ENSG00000163281	ENST00000295448;ENST00000509756	T;T	0.39056	1.1;1.1	6.16	6.16	0.99307	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.103457	0.64402	D	0.000002	T	0.30792	0.0776	N	0.04787	-0.16	0.80722	D	1	B;P	0.42735	0.007;0.788	B;B	0.41860	0.003;0.368	T	0.28138	-1.0053	10	0.66056	D	0.02	-13.2575	19.848	0.96722	0.0:1.0:0.0:0.0	.	48;48	Q8TDQ7-3;Q8TDQ7	.;GNPI2_HUMAN	F	48	ENSP00000295448:C48F;ENSP00000424061:C48F	ENSP00000295448:C48F	C	-	2	0	GNPDA2	44415166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.937000	0.99478	0.650000	0.86243	TGC		0.244	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		7	19	1	0	1.06961e-07	0.00308	1.23722e-07	7	19				
GABRA2	2555	broad.mit.edu	37	4	46252441	46252441	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46252441C>A	ENST00000510861.1	-	10	1413	c.1240G>T	c.(1240-1242)Gtt>Ttt	p.V414F	GABRA2_ENST00000514090.1_Missense_Mutation_p.V414F|GABRA2_ENST00000507069.1_Missense_Mutation_p.V474F|GABRA2_ENST00000356504.1_Missense_Mutation_p.V414F|GABRA2_ENST00000381620.4_Missense_Mutation_p.V414F|GABRA2_ENST00000540012.1_Missense_Mutation_p.V419F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	414					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATTTTGCTAACACTGTTGAAA	0.393																																							uc003gxc.3		NA																	0				ovary(2)|skin(2)	4						c.(1240-1242)GTT>TTT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						191.0	194.0	193.0					4																	46252441		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252441C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1240G>T	4.37:g.46252441C>A	ENSP00000421828:p.Val414Phe					GABRA2_uc010igc.2_Missense_Mutation_p.V414F|GABRA2_uc011bzc.1_Missense_Mutation_p.V419F	p.V414F	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	1913	-			414			Cytoplasmic (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1240G>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384300	0.82792	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.86230	-2.09;-2.09;-2.09;-2.09;-1.61;-0.79	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94046	0.8092	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94035	0.7304	10	0.87932	D	0	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	419;414	B7Z1H8;P47869	.;GBRA2_HUMAN	F	414;414;414;414;419;474	ENSP00000421828:V414F;ENSP00000421300:V414F;ENSP00000371033:V414F;ENSP00000348897:V414F;ENSP00000444409:V419F;ENSP00000427603:V474F	ENSP00000348897:V414F	V	-	1	0	GABRA2	45947198	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.827000	0.97445	0.655000	0.94253	GTT		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			56	166	1	0	2.76378e-25	0.00361	4.39208e-25	56	166				
GABRA2	2555	broad.mit.edu	37	4	46334653	46334653	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46334653G>T	ENST00000510861.1	-	4	407	c.234C>A	c.(232-234)ggC>ggA	p.G78G	GABRA2_ENST00000514090.1_Silent_p.G78G|GABRA2_ENST00000515082.1_Silent_p.G78G|GABRA2_ENST00000507069.1_Silent_p.G78G|GABRA2_ENST00000356504.1_Silent_p.G78G|GABRA2_ENST00000381620.4_Silent_p.G78G|GABRA2_ENST00000540012.1_Intron			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	78					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGAGACAGGGCCAAAACTGG	0.333																																							uc003gxc.3		NA																	0				ovary(2)|skin(2)	4						c.(232-234)GGC>GGA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						86.0	90.0	89.0					4																	46334653		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46334653G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.234C>A	4.37:g.46334653G>T						GABRA2_uc010igc.2_Silent_p.G78G|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Silent_p.G78G	p.G78G	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			3	907	-			78			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.234C>A	CCDS3471.1																																																																																				0.333	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			12	51	1	0	2.61681e-11	0.00245	3.26933e-11	12	51				
GABRA4	2557	broad.mit.edu	37	4	46930439	46930439	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46930439C>A	ENST00000264318.3	-	9	2450	c.1468G>T	c.(1468-1470)Gtt>Ttt	p.V490F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	490					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGTATTAACTGTGGTCTTT	0.473																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1468-1470)GTT>TTT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						153.0	143.0	146.0					4																	46930439		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930439C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1468G>T	4.37:g.46930439C>A	ENSP00000264318:p.Val490Phe						p.V490F	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1607	-			490			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1468G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027548	0.19512	.	.	ENSG00000109158	ENST00000264318	T	0.80909	-1.43	5.82	3.15	0.36227	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.705380	0.02498	N	0.090234	T	0.70509	0.3232	N	0.19112	0.55	0.09310	N	1	B	0.31413	0.322	B	0.33121	0.158	T	0.59521	-0.7439	10	0.34782	T	0.22	.	6.0324	0.19686	0.0:0.5134:0.3237:0.1629	.	490	P48169	GBRA4_HUMAN	F	490	ENSP00000264318:V490F	ENSP00000264318:V490F	V	-	1	0	GABRA4	46625196	0.992000	0.36948	0.209000	0.23619	0.076000	0.17211	1.584000	0.36589	0.801000	0.34066	0.650000	0.86243	GTT		0.473	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			30	70	1	0	7.01153e-11	0.007291	8.67027e-11	30	70				
GABRA4	2557	broad.mit.edu	37	4	46930643	46930643	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:46930643T>C	ENST00000264318.3	-	9	2246	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	422					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTGTGCCTTTAGAAGATTCT	0.448																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1264-1266)AAA>GAA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						110.0	105.0	107.0					4																	46930643		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930643T>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1264A>G	4.37:g.46930643T>C	ENSP00000264318:p.Lys422Glu						p.K422E	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1403	-			422			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1264A>G	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	5.129	0.209358	0.09757	.	.	ENSG00000109158	ENST00000264318	D	0.84800	-1.9	5.18	4.33	0.51752	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.681750	0.01120	N	0.005770	T	0.72606	0.3481	N	0.08118	0	0.19945	N	0.999949	B	0.02656	0.0	B	0.01281	0.0	T	0.60321	-0.7286	10	0.06625	T	0.88	.	10.5061	0.44834	0.0:0.9094:0.0:0.0906	.	422	P48169	GBRA4_HUMAN	E	422	ENSP00000264318:K422E	ENSP00000264318:K422E	K	-	1	0	GABRA4	46625400	1.000000	0.71417	0.316000	0.25252	0.822000	0.46500	1.872000	0.39549	1.400000	0.46741	-0.248000	0.11899	AAA		0.448	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			25	76	0	0	0	0.004656	0	25	76				
ATP10D	57205	broad.mit.edu	37	4	47517556	47517556	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:47517556C>A	ENST00000273859.3	+	3	623	c.354C>A	c.(352-354)ttC>ttA	p.F118L	ATP10D_ENST00000504445.1_Missense_Mutation_p.F118L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	118					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TAGAAGCCTTCCAAAAGGAAA	0.418																																							uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(352-354)TTC>TTA		ATPase, class V, type 10D							162.0	154.0	157.0					4																	47517556		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47517556C>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.354C>A	4.37:g.47517556C>A	ENSP00000273859:p.Phe118Leu					ATP10D_uc003gxj.3_Missense_Mutation_p.F118L	p.F118L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			3	518	+			118			Helical; (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.354C>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377015	0.82682	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.82984	-1.67;-1.67	5.38	4.54	0.55810	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	L	0.46157	1.445	0.48901	D	0.999728	P;D	0.65815	0.778;0.995	B;P	0.58013	0.358;0.831	D	0.85000	0.0899	10	0.45353	T	0.12	-22.8695	13.4261	0.61026	0.0:0.924:0.0:0.076	.	118;118	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	118	ENSP00000273859:F118L;ENSP00000420909:F118L	ENSP00000273859:F118L	F	+	3	2	ATP10D	47212313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.724000	0.25954	1.266000	0.44231	0.655000	0.94253	TTC		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		23	73	1	0	1.64293e-13	0.00333	2.13394e-13	23	73				
ATP10D	57205	broad.mit.edu	37	4	47537548	47537548	+	Missense_Mutation	SNP	G	G	T	rs185611178	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:47537548G>T	ENST00000273859.3	+	6	1068	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	ATP10D_ENST00000504445.1_Missense_Mutation_p.V267L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	267					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAAGAACGCGTGGGTCTCAG	0.378													G|||	3	0.000599042	0.0	0.0	5008	,	,		17795	0.003		0.0	False		,,,				2504	0.0						uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(799-801)GTG>TTG		ATPase, class V, type 10D							157.0	146.0	150.0					4																	47537548		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47537548G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.799G>T	4.37:g.47537548G>T	ENSP00000273859:p.Val267Leu					ATP10D_uc003gxl.1_5'Flank|ATP10D_uc003gxj.3_Missense_Mutation_p.V267L	p.V267L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			6	963	+			267			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.799G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656634	0.47467	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.74526	-0.85;-0.85	5.74	3.7	0.42460	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.147235	0.44902	D	0.000404	T	0.58308	0.2113	N	0.16066	0.365	0.32098	N	0.590973	B;B	0.22346	0.045;0.068	B;B	0.33846	0.171;0.101	T	0.59354	-0.7470	10	0.20046	T	0.44	-12.9831	10.0189	0.42031	0.2385:0.0:0.7615:0.0	.	267;267	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	267	ENSP00000273859:V267L;ENSP00000420909:V267L	ENSP00000273859:V267L	V	+	1	0	ATP10D	47232305	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	4.166000	0.58203	1.412000	0.46977	0.655000	0.94253	GTG		0.378	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		13	48	1	0	0.00316338	0.003163	0.0032664	13	48				
CORIN	10699	broad.mit.edu	37	4	47765523	47765523	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:47765523T>C	ENST00000273857.4	-	4	489	c.490A>G	c.(490-492)Aga>Gga	p.R164G	CORIN_ENST00000502252.1_Missense_Mutation_p.R97G|CORIN_ENST00000508498.1_Missense_Mutation_p.R25G|CORIN_ENST00000504584.1_Missense_Mutation_p.R164G|CORIN_ENST00000505909.1_Missense_Mutation_p.R164G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	164	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.	Cleavage; by autolysis.			female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCATGTTTCTGACAACTGAG	0.493																																							uc003gxm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(490-492)AGA>GGA		corin							154.0	142.0	146.0					4																	47765523		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47765523T>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.490A>G	4.37:g.47765523T>C	ENSP00000273857:p.Arg164Gly					CORIN_uc011bzf.1_Missense_Mutation_p.R25G|CORIN_uc011bzg.1_Missense_Mutation_p.R97G|CORIN_uc011bzh.1_Missense_Mutation_p.R164G|CORIN_uc011bzi.1_Missense_Mutation_p.R164G|CORIN_uc003gxn.3_Missense_Mutation_p.R164G	p.R164G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			4	583	-			164			Extracellular (Potential).|FZ 1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.490A>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	T	5.269	0.235014	0.09969	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.09	2.49	0.30216	Frizzled domain (5);	0.376680	0.27932	N	0.017267	T	0.28433	0.0703	N	0.16743	0.435	0.38197	D	0.940062	B;B;B;B;B	0.29212	0.028;0.101;0.087;0.01;0.237	B;B;B;B;B	0.33121	0.039;0.062;0.158;0.065;0.079	T	0.08889	-1.0700	10	0.22109	T	0.4	.	7.4734	0.27361	0.0:0.0748:0.1429:0.7822	.	164;164;97;25;164	B7Z4R1;B4E2W9;B4E1Y7;B4DZA3;Q9Y5Q5	.;.;.;.;CORIN_HUMAN	G	164;25;97;164;164	ENSP00000273857:R164G;ENSP00000425597:R25G;ENSP00000424212:R97G;ENSP00000425401:R164G;ENSP00000423216:R164G	ENSP00000273857:R164G	R	-	1	2	CORIN	47460280	1.000000	0.71417	0.038000	0.18304	0.087000	0.18053	2.126000	0.42026	0.900000	0.36469	0.533000	0.62120	AGA		0.493	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			26	82	0	0	0	0.00632	0	26	82				
FRYL	285527	broad.mit.edu	37	4	48524980	48524980	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:48524980C>T	ENST00000503238.1	-	51	7458	c.7459G>A	c.(7459-7461)Gat>Aat	p.D2487N	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.D2487N|FRYL_ENST00000358350.4_Missense_Mutation_p.D2487N			O94915	FRYL_HUMAN	FRY-like	2487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						GAGGACTCATCTGTATCCTCC	0.498																																							uc003gyh.1		NA																	0				skin(1)	1						c.(7459-7461)GAT>AAT		furry-like							201.0	199.0	200.0					4																	48524980		1998	4176	6174	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48524980C>T	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.7459G>A	4.37:g.48524980C>T	ENSP00000426064:p.Asp2487Asn					FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.D1183N|FRYL_uc003gyi.1_Missense_Mutation_p.D1375N|FRYL_uc003gyj.1_Missense_Mutation_p.D782N	p.D2487N	NM_015030	NP_055845	O94915	FRYL_HUMAN			54	8064	-			2487					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7459G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.643262|4.643262	0.87859|0.87859	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.31510|.	1.49;1.49;1.49|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77890|0.77890	0.4198|0.4198	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.997;0.998|.	D;D;D|.	0.77004|.	0.989;0.928;0.967|.	T|T	0.76195|0.76195	-0.3048|-0.3048	10|5	0.51188|.	T|.	0.08|.	.|.	20.0154|20.0154	0.97476|0.97476	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1317;2487;2487|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	N|K	2487|1356	ENSP00000426064:D2487N;ENSP00000351113:D2487N;ENSP00000441114:D2487N|.	ENSP00000351113:D2487N|.	D|R	-|-	1|2	0|0	FRYL|FRYL	48219737|48219737	1.000000|1.000000	0.71417|0.71417	0.295000|0.295000	0.24960|0.24960	0.490000|0.490000	0.33462|0.33462	7.818000|7.818000	0.86416|0.86416	2.731000|2.731000	0.93534|0.93534	0.585000|0.585000	0.79938|0.79938	GAT|AGA		0.498	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			93	74	0	0	0	0.00361	0	93	74				
DCUN1D4	23142	broad.mit.edu	37	4	52777283	52777283	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:52777283G>T	ENST00000334635.5	+	9	843	c.663G>T	c.(661-663)ttG>ttT	p.L221F	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L265F|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L161F	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	221	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AGTGCATGTTGGGACTGTTAT	0.393																																							uc003gze.2		NA																	0				ovary(2)	2						c.(661-663)TTG>TTT		DCN1, defective in cullin neddylation 1, domain							139.0	137.0	138.0					4																	52777283		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777283G>T	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.663G>T	4.37:g.52777283G>T	ENSP00000334625:p.Leu221Phe					DCUN1D4_uc003gzf.2_Intron|DCUN1D4_uc011bzn.1_Missense_Mutation_p.L161F|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_Intron|DCUN1D4_uc011bzo.1_Missense_Mutation_p.L265F	p.L221F	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	796	+			221			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.663G>T	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681731	0.88542	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.72394	-0.65;-0.65;-0.65	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.85575	0.1236	10	0.72032	D	0.01	-1.2203	12.6974	0.57012	0.0744:0.0:0.9256:0.0	.	265;221	B4DH25;Q92564	.;DCNL4_HUMAN	F	221;161;265;31	ENSP00000334625:L221F;ENSP00000370846:L161F;ENSP00000389900:L265F	ENSP00000334625:L221F	L	+	3	2	DCUN1D4	52472040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.987000	0.63857	2.836000	0.97738	0.655000	0.94253	TTG		0.393	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		20	44	1	0	1.37657e-19	0.001882	2.0123e-19	20	44				
SCFD2	152579	broad.mit.edu	37	4	54231379	54231379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:54231379G>A	ENST00000401642.3	-	1	863	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	SCFD2_ENST00000388940.4_Nonsense_Mutation_p.Q244*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	244					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCGATGACCTGACTTAAGGAA	0.517																																							uc003gzu.2		NA																	0				ovary(2)|pancreas(1)	3						c.(730-732)CAG>TAG		sec1 family domain containing 2							144.0	133.0	137.0					4																	54231379		2203	4300	6503	SO:0001587	stop_gained	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231379G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.730C>T	4.37:g.54231379G>A	ENSP00000384182:p.Gln244*					SCFD2_uc010igm.2_Nonsense_Mutation_p.Q244*	p.Q244*	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	864	-			244					Q8N5F3|Q8N8H0|Q96ED3	Nonsense_Mutation	SNP	ENST00000401642.3	37	c.730C>T	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545430	0.86022	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	.	.	.	5.51	5.51	0.81932	.	0.111641	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	16.9624	0.86275	0.0:0.0:1.0:0.0	.	.	.	.	X	244	.	ENSP00000373592:Q244X	Q	-	1	0	SCFD2	53926136	1.000000	0.71417	0.968000	0.41197	0.002000	0.02628	5.475000	0.66787	2.873000	0.98535	0.561000	0.74099	CAG		0.517	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		39	47	0	0	0	0.009718	0	39	47				
LPHN3	23284	broad.mit.edu	37	4	62812687	62812687	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:62812687G>C	ENST00000514591.1	+	15	2600	c.2271G>C	c.(2269-2271)acG>acC	p.T757T	LPHN3_ENST00000508693.1_Silent_p.T825T|LPHN3_ENST00000545650.1_Silent_p.T757T|LPHN3_ENST00000506746.1_Silent_p.T825T|LPHN3_ENST00000507164.1_Silent_p.T825T|LPHN3_ENST00000506720.1_Silent_p.T825T|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000512091.2_Silent_p.T757T|LPHN3_ENST00000508946.1_Silent_p.T757T|LPHN3_ENST00000506700.1_Silent_p.T757T|LPHN3_ENST00000507625.1_Silent_p.T825T|LPHN3_ENST00000514157.1_Silent_p.T757T|LPHN3_ENST00000514996.1_Silent_p.T757T|LPHN3_ENST00000509896.1_Silent_p.T825T|LPHN3_ENST00000504896.1_Silent_p.T757T|LPHN3_ENST00000511324.1_Silent_p.T825T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	744					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T757T(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTTATCCACGGAGAATGCCA	0.393																																							uc010ihh.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2269-2271)ACG>ACC		latrophilin 3 precursor							264.0	246.0	252.0					4																	62812687		1878	4115	5993	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812687G>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2271G>C	4.37:g.62812687G>C						LPHN3_uc003hcq.3_Silent_p.T757T|LPHN3_uc003hct.2_Silent_p.T150T	p.T757T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2444	+			744			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.2271G>C	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989312	0.18966	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.60222	0.2252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58679	-0.7594	4	.	.	.	.	8.7254	0.34467	0.0755:0.0:0.7734:0.1511	.	.	.	.	R	215	.	.	G	+	1	0	LPHN3	62495282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.089000	0.30890	2.595000	0.87683	0.557000	0.71058	GGA		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			52	103	0	0	0	0.00361	0	52	103				
LPHN3	23284	broad.mit.edu	37	4	62903488	62903488	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:62903488T>A	ENST00000514591.1	+	23	3756	c.3427T>A	c.(3427-3429)Tgt>Agt	p.C1143S	LPHN3_ENST00000508693.1_Missense_Mutation_p.C1211S|LPHN3_ENST00000545650.1_Missense_Mutation_p.C1143S|LPHN3_ENST00000506746.1_Missense_Mutation_p.C1202S|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1202S|LPHN3_ENST00000506720.1_Missense_Mutation_p.C1211S|LPHN3_ENST00000512091.2_Missense_Mutation_p.C1143S|LPHN3_ENST00000508946.1_Missense_Mutation_p.C1143S|LPHN3_ENST00000506700.1_Missense_Mutation_p.C1134S|LPHN3_ENST00000507625.1_Missense_Mutation_p.C1202S|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1134S|LPHN3_ENST00000514996.1_Missense_Mutation_p.C1134S|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1211S|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1143S|LPHN3_ENST00000511324.1_Missense_Mutation_p.C1202S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1121					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AACACATTGCTGTAGTGGCAA	0.413																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3427-3429)TGT>AGT		latrophilin 3 precursor							144.0	145.0	144.0					4																	62903488		1958	4164	6122	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903488T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3427T>A	4.37:g.62903488T>A	ENSP00000422533:p.Cys1143Ser					LPHN3_uc003hcq.3_Missense_Mutation_p.C1143S|LPHN3_uc003hct.2_Missense_Mutation_p.C527S	p.C1143S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			21	3600	+			1121			Cytoplasmic (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3427T>A	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.611327|4.611327	0.87258|0.87258	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.29917|.	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55|.	5.33|5.33	5.33|5.33	0.75918|0.75918	GPCR, family 2, latrophilin, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70404|0.70404	0.3220|0.3220	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.997;0.996|.	D;D;D|.	0.80764|.	0.936;0.994;0.99|.	T|T	0.69304|0.69304	-0.5180|-0.5180	10|5	0.72032|.	D|.	0.01|.	.|.	15.5932|15.5932	0.76554|0.76554	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1143;1121;1143|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	S|Q	1143;1143;1211;1202;1134;1143;1121;1143;1202;1211;1202;1134;1143;1143;1211;1202;1134|591	ENSP00000423388:C1143S;ENSP00000422533:C1143S;ENSP00000423787:C1211S;ENSP00000425033:C1202S;ENSP00000424120:C1134S;ENSP00000439831:C1143S;ENSP00000421476:C1202S;ENSP00000424030:C1211S;ENSP00000421372:C1202S;ENSP00000425201:C1134S;ENSP00000423434:C1143S;ENSP00000421627:C1143S;ENSP00000420931:C1211S;ENSP00000425884:C1202S;ENSP00000424258:C1134S|.	ENSP00000280009:C1143S|.	C|L	+|+	1|2	0|0	LPHN3|LPHN3	62586083|62586083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.648000|7.648000	0.83479|0.83479	2.144000|2.144000	0.66660|0.66660	0.528000|0.528000	0.53228|0.53228	TGT|CTG		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			29	25	0	0	0	0.007291	0	29	25				
LPHN3	23284	broad.mit.edu	37	4	62935844	62935844	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:62935844G>C	ENST00000514591.1	+	25	3957	c.3628G>C	c.(3628-3630)Gcc>Ccc	p.A1210P	LPHN3_ENST00000508693.1_Missense_Mutation_p.C1338S|RP11-84A1.3_ENST00000504135.1_RNA|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000545650.1_Missense_Mutation_p.A1210P|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000506746.1_Missense_Mutation_p.A1312P|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1329S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A1321P|LPHN3_ENST00000512091.2_Missense_Mutation_p.C1227S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A1253P|LPHN3_ENST00000506700.1_Missense_Mutation_p.C1218S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A1269P|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1261S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A1244P|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1295S|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1270S|LPHN3_ENST00000511324.1_Missense_Mutation_p.C1286S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1188					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGAACAATGCCAGGGATAC	0.413																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3628-3630)GCC>CCC		latrophilin 3 precursor							72.0	74.0	73.0					4																	62935844		2096	4280	6376	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62935844G>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3628G>C	4.37:g.62935844G>C	ENSP00000422533:p.Ala1210Pro					LPHN3_uc003hcq.3_Missense_Mutation_p.C1227S|LPHN3_uc003hct.2_Missense_Mutation_p.A594P	p.A1210P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			23	3801	+			1188			Cytoplasmic (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3628G>C	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.43|17.43	3.386964|3.386964	0.61956|0.61956	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000512091;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000514157;ENST00000504896;ENST00000502815	T;T;T;T;T;T;T|T;T;T;T;T;T;T;T	0.71934|0.77877	-0.6;-0.6;-0.61;-0.6;-0.61;-0.61;-0.61|-0.3;-0.32;-0.32;-0.3;-1.11;-1.13;-1.04;-1.05	5.01|5.01	5.01|5.01	0.66863|0.66863	GPCR, family 2, latrophilin, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74145|0.74145	0.3678|0.3678	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|P	0.76494|0.36535	0.999;0.999|0.557	D;D|B	0.69824|0.27500	0.966;0.966|0.08	T|T	0.77824|0.77824	-0.2444|-0.2444	10|9	0.62326|0.56958	D|D	0.03|0.05	.|.	18.3226|18.3226	0.90243|0.90243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1210;1188|1227	E9PE04;Q9HAR2|Q9HAR2-2	.;LPHN3_HUMAN|.	P|S	1210;1210;1188;1269;1253;1321;1312;1244|1227;1295;1286;1218;1227;1329;1338;1261;1270;658	ENSP00000422533:A1210P;ENSP00000439831:A1210P;ENSP00000421372:A1269P;ENSP00000421627:A1253P;ENSP00000420931:A1321P;ENSP00000425884:A1312P;ENSP00000424258:A1244P|ENSP00000423388:C1227S;ENSP00000423787:C1295S;ENSP00000425033:C1286S;ENSP00000424120:C1218S;ENSP00000421476:C1329S;ENSP00000424030:C1338S;ENSP00000425201:C1261S;ENSP00000423434:C1270S	ENSP00000295349:A1188P|ENSP00000280009:C1227S	A|C	+|+	1|2	0|0	LPHN3|LPHN3	62618439|62618439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.476000|9.476000	0.97823|0.97823	2.321000|2.321000	0.78463|0.78463	0.460000|0.460000	0.39030|0.39030	GCC|TGC		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			17	24	0	0	0	0.010504	0	17	24				
EPHA5	2044	broad.mit.edu	37	4	66467728	66467728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:66467728C>A	ENST00000273854.3	-	3	1141	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E181*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E181*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E181*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	181	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTAAAGCTTTCATCGGCAGCA	0.363										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(541-543)GAA>TAA		ephrin receptor EphA5 isoform a precursor							109.0	103.0	105.0					4																	66467728		2203	4300	6503	SO:0001587	stop_gained	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467728C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.541G>T	4.37:g.66467728C>A	ENSP00000273854:p.Glu181*	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Nonsense_Mutation_p.E112*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E181*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E181*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E181*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E181*	p.E181*	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	734	-			181			Extracellular (Potential).		Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	c.541G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	41	8.711401	0.98925	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1208	0.97960	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000273854:E181X	E	-	1	0	EPHA5	66150323	1.000000	0.71417	0.999000	0.59377	0.223000	0.24884	7.818000	0.86416	2.758000	0.94735	0.655000	0.94253	GAA		0.363	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		17	46	1	0	5.01169e-05	0.00499	5.42396e-05	17	46				
STAP1	26228	broad.mit.edu	37	4	68436841	68436841	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:68436841C>A	ENST00000265404.2	+	2	242	c.160C>A	c.(160-162)Ctt>Att	p.L54I	STAP1_ENST00000396225.1_Missense_Mutation_p.L54I	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	54	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AGGAACTACTCTTTTCTTTTA	0.308																																							uc003hde.3		NA																	0					0						c.(160-162)CTT>ATT		signal transducing adaptor family member 1							137.0	157.0	150.0					4																	68436841		2203	4299	6502	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436841C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.160C>A	4.37:g.68436841C>A	ENSP00000265404:p.Leu54Ile					STAP1_uc003hdf.2_Missense_Mutation_p.L54I	p.L54I	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN			2	242	+			54			PH.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.160C>A	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900807	0.33535	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.65916	-0.18;-0.18	4.36	4.36	0.52297	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	L	0.53249	1.67	0.42449	D	0.992747	B	0.06786	0.001	B	0.14578	0.011	T	0.54255	-0.8321	10	0.33940	T	0.23	-11.6977	12.5594	0.56273	0.0:1.0:0.0:0.0	.	54	Q9ULZ2	STAP1_HUMAN	I	54	ENSP00000265404:L54I;ENSP00000379527:L54I	ENSP00000265404:L54I	L	+	1	0	STAP1	68119436	0.998000	0.40836	1.000000	0.80357	0.881000	0.50899	3.653000	0.54446	2.419000	0.82065	0.430000	0.28490	CTT		0.308	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		37	60	1	0	1.00776e-21	0.00361	1.52623e-21	37	60				
GNRHR	2798	broad.mit.edu	37	4	68610368	68610368	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:68610368G>T	ENST00000226413.4	-	2	684	c.660C>A	c.(658-660)ttC>ttA	p.F220L	GNRHR_ENST00000420975.2_Missense_Mutation_p.H178N|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|SNORA62_ENST00000365504.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	220					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GAGGGATGATGAAGAGGCAGC	0.428																																							uc003hdn.2		NA																	0				ovary(1)	1						c.(658-660)TTC>TTA		gonadotropin-releasing hormone receptor isoform	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						134.0	138.0	137.0					4																	68610368		2203	4300	6503	SO:0001583	missense	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610368G>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.660C>A	4.37:g.68610368G>T	ENSP00000226413:p.Phe220Leu					LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.H178N	p.F220L	NM_000406	NP_000397	P30968	GNRHR_HUMAN			2	2411	-			220			Helical; Name=5; (Potential).		O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.660C>A	CCDS3517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.67|13.67	2.305944|2.305944	0.40795|0.40795	.|.	.|.	ENSG00000109163|ENSG00000109163	ENST00000226413|ENST00000420975	T|T	0.76578|0.37058	-1.03|1.22	5.51|5.51	3.76|3.76	0.43208|0.43208	GPCR, rhodopsin-like superfamily (1);|.	0.093437|.	0.47852|.	N|.	0.000209|.	T|T	0.28830|0.28830	0.0715|0.0715	.|.	.|.	.|.	0.24154|0.24154	N|N	0.995681|0.995681	D|B	0.76494|0.06786	0.999|0.001	D|B	0.79108|0.09377	0.992|0.004	T|T	0.22941|0.22941	-1.0202|-1.0202	9|8	0.87932|0.66056	D|D	0|0.02	-21.8802|-21.8802	8.6696|8.6696	0.34143|0.34143	0.0799:0.0:0.7684:0.1517|0.0799:0.0:0.7684:0.1517	.|.	220|178	P30968|P30968-2	GNRHR_HUMAN|.	L|N	220|178	ENSP00000226413:F220L|ENSP00000397561:H178N	ENSP00000226413:F220L|ENSP00000397561:H178N	F|H	-|-	3|1	2|0	GNRHR|GNRHR	68292963|68292963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.522000|3.522000	0.53480|0.53480	0.787000|0.787000	0.33731|0.33731	0.643000|0.643000	0.83706|0.83706	TTC|CAT		0.428	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			24	35	1	0	2.52088e-20	0.00278	3.7302e-20	24	35				
TMPRSS11B	132724	broad.mit.edu	37	4	69100207	69100207	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:69100207G>T	ENST00000332644.5	-	5	604	c.443C>A	c.(442-444)gCa>gAa	p.A148E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	148	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGCAGGAACTGCATTCCAGGA	0.328																																							uc003hdw.3		NA																	0				ovary(1)	1						c.(442-444)GCA>GAA		transmembrane protease, serine 11B							112.0	108.0	109.0					4																	69100207		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69100207G>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.443C>A	4.37:g.69100207G>T	ENSP00000330475:p.Ala148Glu						p.A148E	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			5	579	-			148			SEA.|Extracellular (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.443C>A	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	8.525	0.869619	0.17322	.	.	ENSG00000185873	ENST00000332644	T	0.33438	1.41	5.16	5.16	0.70880	.	0.365275	0.19916	N	0.103182	T	0.38612	0.1047	L	0.51422	1.61	0.20074	N	0.999931	P	0.48764	0.915	P	0.50082	0.63	T	0.20605	-1.0270	10	0.38643	T	0.18	.	14.4817	0.67587	0.0:0.0:1.0:0.0	.	148	Q86T26	TM11B_HUMAN	E	148	ENSP00000330475:A148E	ENSP00000330475:A148E	A	-	2	0	TMPRSS11B	68782802	0.004000	0.15560	0.891000	0.34965	0.034000	0.12701	0.960000	0.29253	2.567000	0.86603	0.655000	0.94253	GCA		0.328	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		9	26	1	0	1.58986e-06	0.008291	1.77324e-06	9	26				
TMPRSS11B	132724	broad.mit.edu	37	4	69101916	69101916	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:69101916C>T	ENST00000332644.5	-	3	354	c.193G>A	c.(193-195)Gca>Aca	p.A65T		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	65	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGTGAAGCTGCGTTTTCACAA	0.279																																							uc003hdw.3		NA																	0				ovary(1)	1						c.(193-195)GCA>ACA		transmembrane protease, serine 11B							40.0	42.0	42.0					4																	69101916		2198	4298	6496	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101916C>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.193G>A	4.37:g.69101916C>T	ENSP00000330475:p.Ala65Thr						p.A65T	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			3	329	-			65			SEA.|Extracellular (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.193G>A	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	6.685	0.494914	0.12702	.	.	ENSG00000185873	ENST00000332644	T	0.32023	1.47	4.1	-0.809	0.10864	SEA (2);	1.362450	0.05189	N	0.502840	T	0.16642	0.0400	N	0.16478	0.41	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21621	-1.0240	10	0.26408	T	0.33	.	3.4151	0.07373	0.1793:0.4:0.0:0.4207	.	65	Q86T26	TM11B_HUMAN	T	65	ENSP00000330475:A65T	ENSP00000330475:A65T	A	-	1	0	TMPRSS11B	68784511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.124000	0.15728	-0.090000	0.12462	-0.237000	0.12165	GCA		0.279	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		4	9	0	0	0	0.009096	0	4	9				
UGT2B28	54490	broad.mit.edu	37	4	70155468	70155468	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:70155468T>G	ENST00000335568.5	+	4	1090	c.1088T>G	c.(1087-1089)cTa>cGa	p.L363R	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	363					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AATGACCTTCTAGGTAACACT	0.353																																							uc003hej.2		NA																	0				skin(1)	1						c.(1087-1089)CTA>CGA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						82.0	109.0	99.0					4																	70155468		1487	2703	4190	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70155468T>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1088T>G	4.37:g.70155468T>G	ENSP00000334276:p.Leu363Arg					UGT2B28_uc010ihr.2_Intron	p.L363R	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			4	1090	+			363					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1088T>G	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.08	1.252853	0.22965	.	.	ENSG00000135226	ENST00000335568	D	0.85484	-1.99	1.85	1.85	0.25348	.	0.000000	0.64402	U	0.000013	D	0.93520	0.7932	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92173	0.5745	10	0.87932	D	0	.	7.3524	0.26700	0.0:0.0:0.0:1.0	.	363	Q9BY64	UDB28_HUMAN	R	363	ENSP00000334276:L363R	ENSP00000334276:L363R	L	+	2	0	UGT2B28	70190057	1.000000	0.71417	0.921000	0.36526	0.016000	0.09150	6.404000	0.73268	0.846000	0.35142	0.155000	0.16302	CTA		0.353	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		22	42	0	0	0	0.002299	0	22	42				
UGT2B28	54490	broad.mit.edu	37	4	70156323	70156323	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:70156323C>G	ENST00000335568.5	+	5	1106	c.1104C>G	c.(1102-1104)acC>acG	p.T368T	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	368					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCCAAAAACCAGAGCTTTTA	0.383																																							uc003hej.2		NA																	0				skin(1)	1						c.(1102-1104)ACC>ACG		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						56.0	58.0	57.0					4																	70156323		2002	4189	6191	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156323C>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1104C>G	4.37:g.70156323C>G						UGT2B28_uc010ihr.2_Intron	p.T368T	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1106	+			368					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1104C>G	CCDS3528.1																																																																																				0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		25	44	0	0	0	0.008361	0	25	44				
MUC7	4589	broad.mit.edu	37	4	71347452	71347452	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:71347452C>A	ENST00000304887.5	+	3	1181	c.991C>A	c.(991-993)Cac>Aac	p.H331N	MUC7_ENST00000456088.1_Missense_Mutation_p.H331N|MUC7_ENST00000413702.1_Missense_Mutation_p.H331N	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	331	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TGCACCCACACACCAGACTAC	0.438																																							uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(991-993)CAC>AAC		mucin 7, secreted precursor							203.0	203.0	203.0					4																	71347452		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347452C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.991C>A	4.37:g.71347452C>A	ENSP00000302021:p.His331Asn					MUC7_uc011cau.1_Missense_Mutation_p.H331N|MUC7_uc003hfj.2_Missense_Mutation_p.H331N|uc011cav.1_RNA	p.H331N	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1279	+			331			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.991C>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	3.518	-0.098267	0.07010	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	3.16	-6.33	0.01988	.	.	.	.	.	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.14117	-1.0484	8	.	.	.	2.8329	3.8216	0.08837	0.1408:0.3409:0.4117:0.1066	.	331	Q8TAX7	MUC7_HUMAN	N	331	ENSP00000407422:H331N;ENSP00000400585:H331N;ENSP00000302021:H331N	.	H	+	1	0	MUC7	71382041	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.101000	0.01344	-2.279000	0.00676	-0.271000	0.10264	CAC		0.438	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		47	71	1	0	3.94638e-17	0.00361	5.53065e-17	47	71				
ENAM	10117	broad.mit.edu	37	4	71508260	71508260	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:71508260C>A	ENST00000396073.3	+	9	1398	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	373					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACAAGTAGCTCGTCCAGGAAA	0.438																																							uc011caw.1		NA																	0				ovary(3)	3						c.(1117-1119)CGT>AGT		enamelin precursor							109.0	114.0	112.0					4																	71508260		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508260C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1117C>A	4.37:g.71508260C>A	ENSP00000379383:p.Arg373Ser						p.R373S	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1398	+			373					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1117C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996778	0.19043	.	.	ENSG00000132464	ENST00000396073	T	0.31510	1.49	5.93	1.05	0.20165	.	0.946121	0.08814	N	0.889824	T	0.37489	0.1005	M	0.69358	2.11	0.09310	N	1	P	0.43024	0.798	P	0.48488	0.579	T	0.24083	-1.0170	10	0.48119	T	0.1	0.5722	4.3221	0.11022	0.4017:0.3948:0.1299:0.0735	.	373	Q9NRM1	ENAM_HUMAN	S	373	ENSP00000379383:R373S	ENSP00000379383:R373S	R	+	1	0	ENAM	71727124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.768000	0.26590	-0.116000	0.11893	-0.182000	0.12963	CGT		0.438	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		41	79	1	0	7.63091e-17	0.007835	1.05869e-16	41	79				
UTP3	57050	broad.mit.edu	37	4	71555428	71555428	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:71555428A>T	ENST00000254803.2	+	1	1233	c.1034A>T	c.(1033-1035)aAg>aTg	p.K345M		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	345					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAATCCACCAAGCCCAAACCA	0.403																																							uc003hfo.2		NA																	0					0						c.(1033-1035)AAG>ATG		UTP3, small subunit processome component							95.0	97.0	96.0					4																	71555428		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555428A>T	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1034A>T	4.37:g.71555428A>T	ENSP00000254803:p.Lys345Met						p.K345M	NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1233	+			345					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1034A>T	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.544703	0.27563	.	.	ENSG00000132467	ENST00000254803	T	0.36878	1.23	4.62	0.729	0.18266	.	0.759558	0.12555	N	0.458663	T	0.48857	0.1523	M	0.66939	2.045	0.19575	N	0.999964	D	0.76494	0.999	D	0.65010	0.931	T	0.32241	-0.9914	10	0.72032	D	0.01	-10.456	4.1548	0.10256	0.688:0.0:0.163:0.1491	.	345	Q9NQZ2	SAS10_HUMAN	M	345	ENSP00000254803:K345M	ENSP00000254803:K345M	K	+	2	0	UTP3	71774292	0.212000	0.23540	0.004000	0.12327	0.535000	0.34838	0.906000	0.28517	0.046000	0.15833	0.460000	0.39030	AAG		0.403	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		39	51	0	0	0	0.004878	0	39	51				
CDKL2	8999	broad.mit.edu	37	4	76532444	76532444	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:76532444C>A	ENST00000429927.2	-	4	1168	c.465G>T	c.(463-465)ggG>ggT	p.G155G	CDKL2_ENST00000307465.4_Silent_p.G155G	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATAAACCTCCCCAGGAGCTG	0.453																																							uc003hiq.2		NA																	0				ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(463-465)GGG>GGT		cyclin-dependent kinase-like 2							87.0	82.0	84.0					4																	76532444		2203	4300	6503	SO:0001819	synonymous_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76532444C>A	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.465G>T	4.37:g.76532444C>A						CDKL2_uc011cbp.1_Silent_p.G155G|CDKL2_uc010iix.1_Intron	p.G155G	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	990	-			155			Protein kinase.		B2R695	Silent	SNP	ENST00000429927.2	37	c.465G>T	CCDS3570.1																																																																																				0.453	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		17	26	1	0	1.15088e-07	0.004007	1.32252e-07	17	26				
FRAS1	80144	broad.mit.edu	37	4	79188481	79188481	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:79188481G>T	ENST00000325942.6	+	9	1316	c.876G>T	c.(874-876)cgG>cgT	p.R292R	FRAS1_ENST00000264895.6_Silent_p.R292R|FRAS1_ENST00000264899.6_Silent_p.R292R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	292	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGTTGTGCGGTACCAGGACG	0.572																																							uc003hlb.2		NA																	0				large_intestine(5)	5						c.(874-876)CGG>CGT		Fraser syndrome 1							86.0	92.0	90.0					4																	79188481		2157	4244	6401	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79188481G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.876G>T	4.37:g.79188481G>T						FRAS1_uc003hkw.2_Silent_p.R292R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'UTR	p.R292R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			9	1316	+			292			VWFC 5.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.876G>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.211|3.211	-0.161549|-0.161549	0.06502|0.06502	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.19|5.19	3.43|3.43	0.39272|0.39272	.|.	.|.	.|.	.|.	.|.	T|T	0.61362|0.61362	0.2341|0.2341	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56926|0.56926	-0.7898|-0.7898	4|4	.|.	.|.	.|.	.|.	10.8138|10.8138	0.46562|0.46562	0.071:0.1313:0.7977:0.0|0.071:0.1313:0.7977:0.0	.|.	.|.	.|.	.|.	V|L	221|135	.|.	.|.	G|V	+|+	2|1	0|0	FRAS1|FRAS1	79407505|79407505	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.297000|0.297000	0.27493|0.27493	0.859000|0.859000	0.27858|0.27858	0.657000|0.657000	0.30906|0.30906	0.655000|0.655000	0.94253|0.94253	GGT|GTA		0.572	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			9	12	1	0	1.76689e-08	0.006214	2.07605e-08	9	12				
WDFY3	23001	broad.mit.edu	37	4	85660262	85660262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:85660262C>A	ENST00000295888.4	-	40	6882	c.6475G>T	c.(6475-6477)Gga>Tga	p.G2159*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.G2159*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2159					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)			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)		AGTCCAAATCCATCCACGTTG	0.413																																							uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(6475-6477)GGA>TGA		WD repeat and FYVE domain containing 3 isoform							118.0	107.0	111.0					4																	85660262		2203	4300	6503	SO:0001587	stop_gained	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85660262C>A	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.6475G>T	4.37:g.85660262C>A	ENSP00000295888:p.Gly2159*						p.G2159*	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	40	6883	-		Hepatocellular(203;0.114)	2159					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	37	c.6475G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	50	16.651954	0.99868	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.7784	0.96405	0.0:1.0:0.0:0.0	.	.	.	.	X	2159	.	ENSP00000295888:G2159X	G	-	1	0	WDFY3	85879286	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.445000	0.80570	2.673000	0.90976	0.557000	0.71058	GGA		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		22	23	1	0	1.9806e-07	0.002299	2.27328e-07	22	23				
SLC10A6	345274	broad.mit.edu	37	4	87746721	87746721	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:87746721T>A	ENST00000273905.6	-	5	918	c.771A>T	c.(769-771)acA>acT	p.T257T	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	257					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTAAGGAAATTGTCCTGCACC	0.378																																							uc003hqd.2		NA																	0					0						c.(769-771)ACA>ACT		sodium-dependent organic anion transporter							72.0	67.0	69.0					4																	87746721		2203	4300	6503	SO:0001819	synonymous_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87746721T>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.771A>T	4.37:g.87746721T>A							p.T257T	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	5	919	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	257			Cytoplasmic (Potential).		Q70EX7	Silent	SNP	ENST00000273905.6	37	c.771A>T	CCDS3614.1																																																																																				0.378	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		11	15	0	0	0	0.000978	0	11	15				
ABCG2	9429	broad.mit.edu	37	4	89020572	89020572	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:89020572C>T	ENST00000237612.3	-	12	1941	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	ABCG2_ENST00000515655.1_Missense_Mutation_p.V466M	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	466	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TAAGATGACACTCTGTAGTAT	0.353																																							uc003hrg.2		NA																	0				central_nervous_system(1)	1						c.(1396-1398)GTG>ATG		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						117.0	117.0	117.0					4																	89020572		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89020572C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1396G>A	4.37:g.89020572C>T	ENSP00000237612:p.Val466Met					ABCG2_uc003hrh.2_Missense_Mutation_p.V466M|ABCG2_uc003hrf.2_Missense_Mutation_p.V334M	p.V466M	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	12	1889	-		Hepatocellular(203;0.114)	466			ABC transmembrane type-2.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.1396G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912706	0.72983	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.72725	-0.68;-0.68	5.19	5.19	0.71726	ABC-2 type transporter (1);	0.058102	0.64402	D	0.000002	T	0.79639	0.4480	M	0.86178	2.8	0.41240	D	0.98663	P;P;P	0.50943	0.94;0.925;0.873	P;P;P	0.56648	0.755;0.803;0.752	T	0.82418	-0.0467	10	0.87932	D	0	-13.4995	5.5383	0.17023	0.1869:0.6866:0.0:0.1264	.	466;466;466	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	M	466	ENSP00000426917:V466M;ENSP00000237612:V466M	ENSP00000237612:V466M	V	-	1	0	ABCG2	89239596	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.885000	0.39678	2.421000	0.82119	0.467000	0.42956	GTG		0.353	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		12	13	0	0	0	0.000978	0	12	13				
FAM13A	10144	broad.mit.edu	37	4	89649693	89649693	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:89649693C>G	ENST00000264344.5	-	24	3270	c.3063G>C	c.(3061-3063)aaG>aaC	p.K1021N	FAM13A-AS1_ENST00000511543.1_RNA|FAM13A_ENST00000503556.1_Missense_Mutation_p.K681N|FAM13A_ENST00000511976.1_Missense_Mutation_p.K607N|FAM13A_ENST00000395002.2_Missense_Mutation_p.K667N|FAM13A_ENST00000508369.1_Missense_Mutation_p.K695N|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000513837.1_Missense_Mutation_p.K667N	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	1021					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTCACATGGACTTGGAATCAG	0.547																																							uc003hse.1		NA																	0				ovary(1)|liver(1)	2						c.(3061-3063)AAG>AAC		family with sequence similarity 13, member A1							142.0	122.0	129.0					4																	89649693		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89649693C>G	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.3063G>C	4.37:g.89649693C>G	ENSP00000264344:p.Lys1021Asn					FAM13A_uc011cdp.1_Missense_Mutation_p.K123N|FAM13A_uc003hsa.1_Missense_Mutation_p.K464N|FAM13A_uc003hsb.1_Missense_Mutation_p.K695N|FAM13A_uc003hsd.1_Missense_Mutation_p.K667N|FAM13A_uc003hsc.1_Missense_Mutation_p.K681N|FAM13A_uc011cdq.1_Missense_Mutation_p.K667N|FAM13A_uc003hsf.1_Missense_Mutation_p.K607N|FAM13AOS_uc003hry.1_RNA|FAM13AOS_uc003hrz.1_RNA	p.K1021N	NM_014883	NP_055698	O94988	FA13A_HUMAN			24	3271	-			1021					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.3063G>C	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543428	0.27563	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.50548	0.74;1.83;1.14;1.22;1.14;1.14	5.18	1.64	0.23874	.	0.167850	0.51477	D	0.000092	T	0.38348	0.1037	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B;B	0.21905	0.011;0.006;0.062;0.006;0.011;0.011	B;B;B;B;B;B	0.24701	0.015;0.015;0.055;0.015;0.015;0.015	T	0.28902	-1.0029	10	0.59425	D	0.04	.	6.7039	0.23240	0.0:0.665:0.1455:0.1894	.	667;607;1021;667;681;695	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	N	667;1021;681;607;695;667	ENSP00000378450:K667N;ENSP00000264344:K1021N;ENSP00000427189:K681N;ENSP00000421914:K607N;ENSP00000421562:K695N;ENSP00000423252:K667N	ENSP00000264344:K1021N	K	-	3	2	FAM13A	89868716	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	1.574000	0.36482	0.663000	0.31027	0.561000	0.74099	AAG		0.547	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			17	34	0	0	0	0.00499	0	17	34				
CCSER1	401145	broad.mit.edu	37	4	91230220	91230220	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:91230220C>A	ENST00000509176.1	+	2	1073	c.785C>A	c.(784-786)gCc>gAc	p.A262D	CCSER1_ENST00000432775.2_Missense_Mutation_p.A262D|CCSER1_ENST00000333691.8_Missense_Mutation_p.A262D	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	262																	GAATTTTTAGCCTTGACTGAA	0.438																																							uc003hsv.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(784-786)GCC>GAC		KIAA1680 protein isoform 1							147.0	137.0	140.0					4																	91230220		1859	4118	5977	SO:0001583	missense	401145							g.chr4:91230220C>A		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.785C>A	4.37:g.91230220C>A	ENSP00000425040:p.Ala262Asp					FAM190A_uc003hsu.3_Missense_Mutation_p.A262D|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A262D	p.A262D	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	1125	+			262					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.785C>A	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067616	0.55539	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.50548	1.28;0.74;1.28	4.73	2.01	0.26516	.	0.477117	0.22393	N	0.060654	T	0.45135	0.1327	L	0.40543	1.245	0.28928	N	0.891724	D;P;P	0.53151	0.958;0.874;0.773	P;P;P	0.51229	0.663;0.491;0.572	T	0.41840	-0.9486	10	0.72032	D	0.01	-1.2777	8.3642	0.32376	0.0:0.728:0.1282:0.1438	.	262;262;262	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	D	262	ENSP00000425040:A262D;ENSP00000389283:A262D;ENSP00000329482:A262D	ENSP00000329482:A262D	A	+	2	0	FAM190A	91449243	0.991000	0.36638	1.000000	0.80357	0.986000	0.74619	2.632000	0.46511	0.272000	0.22027	-0.126000	0.14955	GCC		0.438	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		52	81	1	0	2.43139e-17	0.00361	3.40995e-17	52	81				
CCSER1	401145	broad.mit.edu	37	4	91645125	91645125	+	Nonsense_Mutation	SNP	G	G	T	rs551302282		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:91645125G>T	ENST00000509176.1	+	7	2281	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	CCSER1_ENST00000504150.1_3'UTR|CCSER1_ENST00000432775.2_Nonsense_Mutation_p.E665*|CCSER1_ENST00000333691.8_Nonsense_Mutation_p.E665*	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	665																	TCTTACTGAAGAGCCAGTGCC	0.333																																							uc003hsv.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1993-1995)GAG>TAG		KIAA1680 protein isoform 1							30.0	28.0	28.0					4																	91645125		1830	4083	5913	SO:0001587	stop_gained	401145							g.chr4:91645125G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1993G>T	4.37:g.91645125G>T	ENSP00000425040:p.Glu665*					FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Nonsense_Mutation_p.E665*|FAM190A_uc003hsx.2_RNA	p.E665*	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			7	2333	+			665					Q4W5M0|Q86V57	Nonsense_Mutation	SNP	ENST00000509176.1	37	c.1993G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	41	8.686968	0.98914	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365;ENST00000503421	.	.	.	4.76	3.91	0.45181	.	0.147571	0.44285	D	0.000470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.8636	10.8658	0.46853	0.0923:0.0:0.9077:0.0	.	.	.	.	X	665;665;665;665;18	.	ENSP00000329482:E665X	E	+	1	0	FAM190A	91864148	1.000000	0.71417	0.998000	0.56505	0.718000	0.41266	5.133000	0.64764	1.307000	0.44944	0.650000	0.86243	GAG		0.333	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	0	1	0	0.004672	0.004672	0.0048062	3	0				
ATOH1	474	broad.mit.edu	37	4	94750813	94750813	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:94750813G>T	ENST00000306011.3	+	1	772	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	246					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CTCCTATGAAGGGGGCGCGGG	0.716																																							uc003hta.1		NA																	0					0						c.(736-738)GGG>TGG		atonal homolog 1							15.0	19.0	17.0					4																	94750813		2191	4282	6473	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750813G>T	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.736G>T	4.37:g.94750813G>T	ENSP00000302216:p.Gly246Trp						p.G246W	NM_005172	NP_005163	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	736	+		Hepatocellular(203;0.114)	246					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.736G>T	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	G	3.043	-0.197105	0.06259	.	.	ENSG00000172238	ENST00000306011	D	0.97575	-4.44	4.26	1.12	0.20585	.	0.803834	0.10905	N	0.621227	D	0.92289	0.7554	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	D	0.85709	0.1318	10	0.62326	D	0.03	-4.2966	8.5445	0.33413	0.343:0.0:0.657:0.0	.	246	Q92858	ATOH1_HUMAN	W	246	ENSP00000302216:G246W	ENSP00000302216:G246W	G	+	1	0	ATOH1	94969836	0.769000	0.28531	0.010000	0.14722	0.176000	0.22953	2.154000	0.42291	0.388000	0.25054	0.478000	0.44815	GGG		0.716	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		17	22	1	0	3.32936e-07	0.006122	3.78318e-07	17	22				
PDHA2	5161	broad.mit.edu	37	4	96761908	96761908	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:96761908G>T	ENST00000295266.4	+	1	670	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	203					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GGGGCAGATAGCCGAAGCTTT	0.463																																							uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(607-609)GCC>TCC		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						57.0	62.0	60.0					4																	96761908		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761908G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.607G>T	4.37:g.96761908G>T	ENSP00000295266:p.Ala203Ser						p.A203S	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	670	+		Hepatocellular(203;0.114)	203					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.607G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276771	0.40294	.	.	ENSG00000163114	ENST00000295266	D	0.95918	-3.85	4.67	-0.00923	0.14001	Dehydrogenase, E1 component (1);	0.410133	0.29369	N	0.012351	D	0.88782	0.6530	N	0.20445	0.575	0.20638	N	0.99988	B	0.18013	0.025	B	0.21360	0.034	T	0.80614	-0.1304	10	0.72032	D	0.01	-1.0497	7.7402	0.28837	0.0:0.0959:0.3633:0.5408	.	203	P29803	ODPAT_HUMAN	S	203	ENSP00000295266:A203S	ENSP00000295266:A203S	A	+	1	0	PDHA2	96980931	0.787000	0.28750	0.024000	0.17045	0.968000	0.65278	1.579000	0.36536	-0.081000	0.12662	0.467000	0.42956	GCC		0.463	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			20	28	1	0	1.56452e-12	0.007413	1.99722e-12	20	28				
PDHA2	5161	broad.mit.edu	37	4	96762426	96762426	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:96762426T>G	ENST00000295266.4	+	1	1188	c.1125T>G	c.(1123-1125)gtT>gtG	p.V375V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	375					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTTTGAAGTTCGTGGTGCAA	0.413																																							uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(1123-1125)GTT>GTG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						113.0	103.0	106.0					4																	96762426		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762426T>G		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1125T>G	4.37:g.96762426T>G							p.V375V	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1188	+		Hepatocellular(203;0.114)	375					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.1125T>G	CCDS3644.1																																																																																				0.413	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			28	35	0	0	0	0.002445	0	28	35				
TBCK	93627	broad.mit.edu	37	4	107092362	107092362	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:107092362T>A	ENST00000273980.5	-	24	2572	c.2125A>T	c.(2125-2127)Act>Tct	p.T709S	TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Missense_Mutation_p.T709S|TBCK_ENST00000361687.4_Missense_Mutation_p.T646S|TBCK_ENST00000394708.2_Missense_Mutation_p.T709S|TBCK_ENST00000394706.3_Missense_Mutation_p.T670S					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TGTCTGTAAGTAGCACTTTTA	0.413																																							uc010ilv.2		NA																	0				large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(2125-2127)ACT>TCT		TBC domain-containing protein kinase-like							150.0	149.0	149.0					4																	107092362		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107092362T>A		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2125A>T	4.37:g.107092362T>A	ENSP00000273980:p.Thr709Ser					TBCK_uc003hyb.2_Missense_Mutation_p.T452S|TBCK_uc003hye.2_Missense_Mutation_p.T670S|TBCK_uc003hyc.2_Missense_Mutation_p.T646S|TBCK_uc003hyd.2_Missense_Mutation_p.T537S|TBCK_uc003hyf.2_Missense_Mutation_p.T709S	p.T709S	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			23	2490	-			709						Missense_Mutation	SNP	ENST00000273980.5	37	c.2125A>T	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664117	0.88251	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.68331	-0.26;-0.26;3.6;-0.32;-0.26	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	M	0.74881	2.28	0.80722	D	1	P;D;D	0.71674	0.931;0.991;0.998	P;P;D	0.69824	0.688;0.719;0.966	T	0.82153	-0.0598	10	0.56958	D	0.05	.	13.9593	0.64168	0.0:0.0:0.0:1.0	.	709;670;646	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	S	709;709;646;670;709	ENSP00000273980:T709S;ENSP00000405847:T709S;ENSP00000355338:T646S;ENSP00000378196:T670S;ENSP00000378198:T709S	ENSP00000273980:T709S	T	-	1	0	TBCK	107311811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.429000	0.80309	2.001000	0.58596	0.477000	0.44152	ACT		0.413	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		18	46	0	0	0	0.010504	0	18	46				
LEF1	51176	broad.mit.edu	37	4	108991910	108991910	+	Missense_Mutation	SNP	C	C	A	rs200011152		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:108991910C>A	ENST00000265165.1	-	9	1679	c.1025G>T	c.(1024-1026)cGt>cTt	p.R342L	LEF1_ENST00000510624.1_Missense_Mutation_p.R246L|LEF1_ENST00000379951.2_Missense_Mutation_p.R314L|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000438313.2_Missense_Mutation_p.R314L	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	342					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTGCTCTTCACGGGAGAGGGC	0.373																																							uc003hyt.1		NA																	0				large_intestine(1)	1						c.(1024-1026)CGT>CTT		lymphoid enhancer-binding factor 1 isoform 1							114.0	106.0	109.0					4																	108991910		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108991910C>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.1025G>T	4.37:g.108991910C>A	ENSP00000265165:p.Arg342Leu					LEF1_uc011cfj.1_Missense_Mutation_p.R199L|LEF1_uc011cfk.1_Missense_Mutation_p.R246L|LEF1_uc003hyu.1_Missense_Mutation_p.R314L|LEF1_uc003hyv.1_Missense_Mutation_p.R314L|LEF1_uc010imb.1_RNA|LEF1_uc003hys.1_RNA|LEF1_uc010ima.1_Missense_Mutation_p.R30L|LEF1_uc003hyw.1_RNA	p.R342L	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	9	1680	-			342			HMG box.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.1025G>T	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200462	0.94997	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64	5.09	5.09	0.68999	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	L	0.43554	1.36	0.80722	D	1	D;D;P;D;D;P	0.89917	0.997;0.999;0.949;0.996;1.0;0.938	D;D;P;D;D;P	0.91635	0.924;0.965;0.896;0.992;0.999;0.763	D	0.99787	1.1030	10	0.87932	D	0	.	18.8604	0.92270	0.0:1.0:0.0:0.0	.	246;199;246;314;314;342	E9PDK3;B4DZY5;B7Z8E2;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;.;LEF1_HUMAN	L	342;314;314;246	ENSP00000265165:R342L;ENSP00000369284:R314L;ENSP00000406176:R314L;ENSP00000422840:R246L	ENSP00000265165:R342L	R	-	2	0	LEF1	109211359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.521000	0.84997	0.591000	0.81541	CGT		0.373	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			19	29	1	0	5.03518e-11	0.007413	6.25436e-11	19	29				
ENPEP	2028	broad.mit.edu	37	4	111441523	111441523	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:111441523G>A	ENST00000265162.5	+	10	2069		c.e10+1		RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)						angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CAGATCTTGGGTAAGGCTCTA	0.388																																							uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.e10+1		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						86.0	79.0	81.0					4																	111441523		2203	4300	6503	SO:0001630	splice_region_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441523G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1727+1G>A	4.37:g.111441523G>A							p.G576_splice	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	10	2069	+		Hepatocellular(203;0.217)						Q504U2	Splice_Site	SNP	ENST00000265162.5	37	c.1727_splice	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051433	0.75960	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9275	0.97108	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPEP	111660972	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	8.848000	0.92172	2.799000	0.96334	0.650000	0.86243	.		0.388	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		Intron	14	26	0	0	0	0.003163	0	14	26				
ANK2	287	broad.mit.edu	37	4	114274342	114274342	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:114274342C>A	ENST00000357077.4	+	38	4621	c.4568C>A	c.(4567-4569)aCa>aAa	p.T1523K	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490K|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1523	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTGACCACAGATGTGTCT	0.443																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4567-4569)ACA>AAA		ankyrin 2 isoform 1							68.0	70.0	69.0					4																	114274342		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114274342C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4568C>A	4.37:g.114274342C>A	ENSP00000349588:p.Thr1523Lys					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.T1538K	p.T1523K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4668	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1490					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4568C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291428	0.80914	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.72835	1.95;1.95;-0.69;-0.58	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000028	D	0.83243	0.5212	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.65573	0.917;0.936	D	0.84305	0.0507	10	0.66056	D	0.02	.	17.0498	0.86515	0.0:0.8734:0.1266:0.0	.	1490;1523	Q01484;Q01484-4	ANK2_HUMAN;.	K	1436;1538;1523;1490	ENSP00000421011:T1436K;ENSP00000424722:T1538K;ENSP00000349588:T1523K;ENSP00000264366:T1490K	ENSP00000264366:T1490K	T	+	2	0	ANK2	114493791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.214000	0.51161	2.759000	0.94783	0.650000	0.86243	ACA		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		19	34	1	0	1.96292e-10	0.010504	2.40424e-10	19	34				
ANK2	287	broad.mit.edu	37	4	114276758	114276758	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:114276758A>T	ENST00000357077.4	+	38	7037	c.6984A>T	c.(6982-6984)acA>acT	p.T2328T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T2295T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2328					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGATTGCACAGGCAGCTGTA	0.493																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6982-6984)ACA>ACT		ankyrin 2 isoform 1							60.0	57.0	58.0					4																	114276758		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276758A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6984A>T	4.37:g.114276758A>T						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.T2343T	p.T2328T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7084	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2295					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.6984A>T	CCDS3702.1																																																																																				0.493	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		15	22	0	0	0	0.00245	0	15	22				
NDST4	64579	broad.mit.edu	37	4	115773944	115773944	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:115773944A>G	ENST00000264363.2	-	8	2431	c.1753T>C	c.(1753-1755)Tgg>Cgg	p.W585R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	585	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTCTGGACCAGATGTCTTTG	0.358																																							uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1753-1755)TGG>CGG		heparan sulfate N-deacetylase/N-sulfotransferase							131.0	127.0	128.0					4																	115773944		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115773944A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1753T>C	4.37:g.115773944A>G	ENSP00000264363:p.Trp585Arg					NDST4_uc010imw.2_RNA	p.W585R	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	8	2432	-		Ovarian(17;0.156)	585			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1753T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563277	0.86335	.	.	ENSG00000138653	ENST00000264363	T	0.53640	0.61	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.86953	2.85	0.80722	D	1	D	0.61697	0.99	P	0.61201	0.885	T	0.77225	-0.2666	10	0.87932	D	0	.	15.7449	0.77932	1.0:0.0:0.0:0.0	.	585	Q9H3R1	NDST4_HUMAN	R	585	ENSP00000264363:W585R	ENSP00000264363:W585R	W	-	1	0	NDST4	115993393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.948000	0.93006	2.114000	0.64651	0.533000	0.62120	TGG		0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	17	0	0	0	0.004482	0	8	17				
KIAA1109	84162	broad.mit.edu	37	4	123193425	123193425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:123193425C>T	ENST00000264501.4	+	48	8684	c.8311C>T	c.(8311-8313)Cag>Tag	p.Q2771*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q2771*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q2771*			Q2LD37	K1109_HUMAN	KIAA1109	2771					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTGAACCTCAGCATGTTAC	0.433																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(8311-8313)CAG>TAG		fragile site-associated protein							108.0	105.0	106.0					4																	123193425		1937	4144	6081	SO:0001587	stop_gained	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123193425C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8311C>T	4.37:g.123193425C>T	ENSP00000264501:p.Gln2771*					KIAA1109_uc003iel.1_Nonsense_Mutation_p.Q706*|KIAA1109_uc003iek.2_Nonsense_Mutation_p.Q1390*	p.Q2771*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			46	8356	+			2771					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	c.8311C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.834714|15.834714	0.99846|0.99846	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.80105	.|0.4562	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77504	.|-0.2563	.|3	0.87932|.	D|.	0|.	.|.	20.2147|20.2147	0.98293|0.98293	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2771|728	.|.	ENSP00000264501:Q2771X|.	Q|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123412875|123412875	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	7.640000|7.640000	0.83355|0.83355	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		12	18	0	0	0	0.00245	0	12	18				
BBS12	166379	broad.mit.edu	37	4	123663745	123663745	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:123663745A>T	ENST00000314218.3	+	2	891	c.698A>T	c.(697-699)cAc>cTc	p.H233L	BBS12_ENST00000542236.1_Missense_Mutation_p.H233L	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	233					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATACTAATCCACAGTAGGCAT	0.388									Bardet-Biedl syndrome																														uc003ieu.2		NA																	0				ovary(2)	2						c.(697-699)CAC>CTC		Bardet-Biedl syndrome 12							87.0	88.0	87.0					4																	123663745		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663745A>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.698A>T	4.37:g.123663745A>T	ENSP00000319062:p.His233Leu						p.H233L	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	891	+			233					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.698A>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395039	0.42512	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	D;D	0.81996	-1.56;-1.56	5.2	4.03	0.46877	.	0.063315	0.64402	D	0.000009	D	0.84257	0.5432	L	0.34521	1.04	0.51482	D	0.999928	D	0.76494	0.999	D	0.68765	0.96	T	0.82422	-0.0465	10	0.39692	T	0.17	-9.732	10.9795	0.47486	0.9267:0.0:0.0733:0.0	.	233	Q6ZW61	BBS12_HUMAN	L	233	ENSP00000319062:H233L;ENSP00000438273:H233L	ENSP00000319062:H233L	H	+	2	0	BBS12	123883195	0.998000	0.40836	0.995000	0.50966	0.398000	0.30690	5.272000	0.65559	0.933000	0.37291	0.528000	0.53228	CAC		0.388	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		18	29	0	0	0	0.00499	0	18	29				
FAT4	79633	broad.mit.edu	37	4	126372061	126372061	+	Missense_Mutation	SNP	G	G	T	rs370611770		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126372061G>T	ENST00000394329.3	+	9	9903	c.9890G>T	c.(9889-9891)cGt>cTt	p.R3297L	FAT4_ENST00000335110.5_Missense_Mutation_p.R1595L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3297	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGTGCCCCGTTTTGTTTCC	0.403																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9889-9891)CGT>CTT		FAT tumor suppressor homolog 4 precursor							57.0	59.0	58.0					4																	126372061		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372061G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9890G>T	4.37:g.126372061G>T	ENSP00000377862:p.Arg3297Leu					FAT4_uc011cgp.1_Missense_Mutation_p.R1595L|FAT4_uc003ifi.1_Missense_Mutation_p.R775L	p.R3297L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9890	+			3297			Cadherin 31.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9890G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638340	0.67130	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01527	4.8;4.8	5.42	5.42	0.78866	Cadherin (2);Cadherin-like (1);	0.000000	0.35262	U	0.003335	T	0.06280	0.0162	L	0.35593	1.075	0.80722	D	1	D;P;D	0.76494	0.998;0.584;0.999	D;B;D	0.85130	0.994;0.361;0.997	T	0.60444	-0.7262	10	0.23891	T	0.37	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	1595;3297;3297	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3297;1595	ENSP00000377862:R3297L;ENSP00000335169:R1595L	ENSP00000335169:R1595L	R	+	2	0	FAT4	126591511	1.000000	0.71417	0.996000	0.52242	0.511000	0.34104	9.666000	0.98612	2.542000	0.85734	0.655000	0.94253	CGT		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		22	19	1	0	4.35082e-09	0.010504	5.18452e-09	22	19				
FAT4	79633	broad.mit.edu	37	4	126397370	126397370	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126397370A>T	ENST00000394329.3	+	12	12265	c.12252A>T	c.(12250-12252)ccA>ccT	p.P4084P	FAT4_ENST00000335110.5_Silent_p.P2347P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4084	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCAAGAGCCAGGATATTGTA	0.358																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12250-12252)CCA>CCT		FAT tumor suppressor homolog 4 precursor							137.0	141.0	139.0					4																	126397370		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126397370A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12252A>T	4.37:g.126397370A>T						FAT4_uc011cgp.1_Silent_p.P2347P|FAT4_uc003ifi.1_Silent_p.P1562P	p.P4084P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			12	12252	+			4084			Laminin G-like 1.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.12252A>T	CCDS3732.3																																																																																				0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	53	0	0	0	0.00361	0	45	53				
FAT4	79633	broad.mit.edu	37	4	126408613	126408613	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126408613G>A	ENST00000394329.3	+	16	12943	c.12930G>A	c.(12928-12930)ggG>ggA	p.G4310G	FAT4_ENST00000335110.5_Silent_p.G2551G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4310	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTAATTGGGAAAAATGGAA	0.398																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12928-12930)GGG>GGA		FAT tumor suppressor homolog 4 precursor							82.0	83.0	83.0					4																	126408613		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408613G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12930G>A	4.37:g.126408613G>A						FAT4_uc011cgp.1_Silent_p.G2551G|FAT4_uc003ifi.1_Silent_p.G1788G	p.G4310G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			16	12930	+			4310			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.12930G>A	CCDS3732.3																																																																																				0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	31	0	0	0	0.000978	0	9	31				
FAT4	79633	broad.mit.edu	37	4	126408659	126408659	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126408659A>G	ENST00000394329.3	+	16	12989	c.12976A>G	c.(12976-12978)Aga>Gga	p.R4326G	FAT4_ENST00000335110.5_Missense_Mutation_p.R2567G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4326	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATATATAACAGAGATATTAT	0.418																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12976-12978)AGA>GGA		FAT tumor suppressor homolog 4 precursor							81.0	81.0	81.0					4																	126408659		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408659A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12976A>G	4.37:g.126408659A>G	ENSP00000377862:p.Arg4326Gly					FAT4_uc011cgp.1_Missense_Mutation_p.R2567G|FAT4_uc003ifi.1_Missense_Mutation_p.R1804G	p.R4326G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			16	12976	+			4326			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.12976A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	7.686	0.690133	0.15039	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.79554	-1.13;-1.28	5.41	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34879	U	0.003612	T	0.78666	0.4319	M	0.64404	1.975	0.42109	D	0.991371	P;P;P	0.42078	0.728;0.77;0.728	B;B;B	0.43508	0.297;0.422;0.297	T	0.76650	-0.2881	10	0.37606	T	0.19	.	11.6595	0.51339	0.6077:0.3923:0.0:0.0	.	2567;4326;4326	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	G	4326;2567	ENSP00000377862:R4326G;ENSP00000335169:R2567G	ENSP00000335169:R2567G	R	+	1	2	FAT4	126628109	0.918000	0.31147	0.973000	0.42090	0.057000	0.15508	1.949000	0.40313	0.867000	0.35654	0.528000	0.53228	AGA		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	19	0	0	0	0.00308	0	8	19				
INTU	27152	broad.mit.edu	37	4	128608933	128608933	+	Missense_Mutation	SNP	C	C	T	rs200782139		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:128608933C>T	ENST00000335251.6	+	8	1463	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	454					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CAGCGCCAGTCCCAGTGCTCA	0.473																																							uc003ifk.1		NA																	0				ovary(1)	1						c.(1360-1362)CCC>TCC		PDZ domain containing 6		C	SER/PRO	0,4406		0,0,2203	115.0	109.0	111.0		1360	-0.7	0.0	4		111	1,8599	1.2+/-3.3	0,1,4299	yes	missense	INTU	NM_015693.3	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	454/943	128608933	1,13005	2203	4300	6503	SO:0001583	missense	27152							g.chr4:128608933C>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1360C>T	4.37:g.128608933C>T	ENSP00000334003:p.Pro454Ser					INTU_uc011cgq.1_RNA	p.P454S	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			8	1430	+			454					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1360C>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	5.287	0.238365	0.10023	0.0	1.16E-4	ENSG00000164066	ENST00000335251	T	0.28069	1.63	4.71	-0.663	0.11410	.	1.080590	0.06983	N	0.820262	T	0.21631	0.0521	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31613	-0.9937	10	0.14656	T	0.56	0.6872	5.1873	0.15191	0.0:0.4266:0.2558:0.3176	.	454	Q9ULD6	PDZD6_HUMAN	S	454	ENSP00000334003:P454S	ENSP00000334003:P454S	P	+	1	0	INTU	128828383	0.000000	0.05858	0.000000	0.03702	0.659000	0.38960	-0.197000	0.09518	0.001000	0.14605	0.591000	0.81541	CCC		0.473	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		26	35	0	0	0	0.00333	0	26	35				
PCDH10	57575	broad.mit.edu	37	4	134073585	134073585	+	Missense_Mutation	SNP	G	G	T	rs371050521		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:134073585G>T	ENST00000264360.5	+	1	3116	c.2290G>T	c.(2290-2292)Ggt>Tgt	p.G764C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	764	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCTGCTGCGGTGGCGGAGG	0.587																																							uc003iha.2		NA																	0				ovary(2)	2						c.(2290-2292)GGT>TGT		protocadherin 10 isoform 1 precursor		G	CYS/GLY,CYS/GLY	1,4405	2.1+/-5.4	0,1,2202	36.0	39.0	38.0		2290,2290	2.8	0.5	4		38	0,8600		0,0,4300	no	missense,missense	PCDH10	NM_020815.1,NM_032961.1	159,159	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	764/897,764/1041	134073585	1,13005	2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073585G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2290G>T	4.37:g.134073585G>T	ENSP00000264360:p.Gly764Cys					PCDH10_uc003igz.2_Missense_Mutation_p.G764C	p.G764C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3116	+			764			Cys-rich.|Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2290G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	2.588	-0.295790	0.05532	2.27E-4	0.0	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.54279	0.58	4.48	2.76	0.32466	.	0.000000	0.43919	D	0.000502	T	0.40909	0.1136	N	0.03608	-0.345	0.25132	N	0.990563	D;B	0.71674	0.998;0.003	P;B	0.62813	0.907;0.002	T	0.19353	-1.0308	10	0.38643	T	0.18	.	6.7461	0.23462	0.2086:0.0:0.7914:0.0	.	764;764	Q9P2E7;Q96SF0	PCD10_HUMAN;.	C	764	ENSP00000264360:G764C	ENSP00000264360:G764C	G	+	1	0	PCDH10	134293035	0.105000	0.21958	0.474000	0.27266	0.339000	0.28857	-0.278000	0.08490	0.525000	0.28522	0.561000	0.74099	GGT		0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	20	1	0	2.7689e-08	0.001984	3.24352e-08	7	20				
PCDH18	54510	broad.mit.edu	37	4	138450988	138450988	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:138450988C>A	ENST00000344876.4	-	1	2641	c.2255G>T	c.(2254-2256)cGg>cTg	p.R752L	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R532L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R752L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	752					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTGAATCTGCCGGGATGGCCT	0.483																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(2254-2256)CGG>CTG		protocadherin 18 precursor							203.0	170.0	181.0					4																	138450988		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138450988C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2255G>T	4.37:g.138450988C>A	ENSP00000355082:p.Arg752Leu					PCDH18_uc003ihf.3_Missense_Mutation_p.R745L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.R532L|PCDH18_uc011cha.1_Intron	p.R752L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2642	-	all_hematologic(180;0.24)		752			Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2255G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514628	0.85389	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.56275	0.57;0.58;0.47	5.53	5.53	0.82687	.	0.000000	0.47455	D	0.000231	T	0.69242	0.3089	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.995;0.991;0.998	P;D;D	0.65443	0.891;0.935;0.924	T	0.66484	-0.5912	10	0.45353	T	0.12	.	19.663	0.95879	0.0:1.0:0.0:0.0	.	532;752;752	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	L	752;752;532	ENSP00000355082:R752L;ENSP00000390688:R752L;ENSP00000425903:R532L	ENSP00000355082:R752L	R	-	2	0	PCDH18	138670438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.269000	0.78482	2.871000	0.98454	0.655000	0.94253	CGG		0.483	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		20	43	1	0	1.78486e-19	0.007413	2.60326e-19	20	43				
MAML3	55534	broad.mit.edu	37	4	141074181	141074181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:141074181C>A	ENST00000509479.2	-	1	1157	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCCAGCTGCTCCACCTGAGCC	0.677																																							uc003ihz.1		NA																	0				ovary(1)	1						c.(301-303)GAG>TAG		mastermind-like 3							18.0	22.0	21.0					4																	141074181		1986	4155	6141	SO:0001587	stop_gained	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:141074181C>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.301G>T	4.37:g.141074181C>A	ENSP00000421180:p.Glu101*					MAML3_uc011chd.1_Nonsense_Mutation_p.E101*	p.E101*	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			1	1053	-	all_hematologic(180;0.162)		101						Nonsense_Mutation	SNP	ENST00000509479.2	37	c.301G>T	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	48	14.064363	0.99777	.	.	ENSG00000196782	ENST00000509479	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.5217	0.67853	0.0:1.0:0.0:0.0	.	.	.	.	X	101	.	ENSP00000421180:E101X	E	-	1	0	MAML3	141293631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	1.661000	0.50771	0.491000	0.48974	GAG		0.677	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			6	1	1	0	0.00198382	0.001984	0.00205832	6	1				
TBC1D9	23158	broad.mit.edu	37	4	141600249	141600249	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:141600249G>A	ENST00000442267.2	-	5	772	c.698C>T	c.(697-699)tCt>tTt	p.S233F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	233							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAGGAATACAGAGAAGAAATG	0.473																																							uc010ioj.2		NA																	0				ovary(1)	1						c.(697-699)TCT>TTT		TBC1 domain family, member 9 (with GRAM domain)							230.0	218.0	222.0					4																	141600249		2027	4212	6239	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600249G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.698C>T	4.37:g.141600249G>A	ENSP00000411197:p.Ser233Phe						p.S233F	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			5	970	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	233					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.698C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940697	0.92526	.	.	ENSG00000109436	ENST00000442267	T	0.09723	2.95	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.82716	2.605	0.80722	D	1	D	0.56968	0.978	P	0.54856	0.762	T	0.06481	-1.0824	10	0.51188	T	0.08	-7.6412	19.3089	0.94177	0.0:0.0:1.0:0.0	.	233	Q6ZT07	TBCD9_HUMAN	F	233	ENSP00000411197:S233F	ENSP00000411197:S233F	S	-	2	0	TBC1D9	141819699	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.950000	0.87804	2.581000	0.87130	0.561000	0.74099	TCT		0.473	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		53	105	0	0	0	0.00361	0	53	105				
POU4F2	5458	broad.mit.edu	37	4	147560530	147560530	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:147560530G>T	ENST00000281321.3	+	1	486	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	80	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					tggcagcagcggcggcggggg	0.697																																							uc003ikv.2		NA																	0				breast(1)	1						c.(238-240)GGC>TGC		Brn3b POU domain transcription factor							10.0	15.0	13.0					4																	147560530		2057	4077	6134	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560530G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.238G>T	4.37:g.147560530G>T	ENSP00000281321:p.Gly80Cys						p.G80C	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	486	+	all_hematologic(180;0.151)		80			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.238G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495913	0.44352	.	.	ENSG00000151615	ENST00000281321	D	0.92348	-3.02	5.2	2.38	0.29361	.	0.208574	0.30051	N	0.010534	D	0.86855	0.6033	N	0.22421	0.69	0.41898	D	0.990407	D	0.52996	0.957	P	0.49361	0.608	T	0.82822	-0.0267	10	0.38643	T	0.18	.	7.3895	0.26901	0.251:0.0:0.749:0.0	.	80	Q12837	PO4F2_HUMAN	C	80	ENSP00000281321:G80C	ENSP00000281321:G80C	G	+	1	0	POU4F2	147779980	0.998000	0.40836	1.000000	0.80357	0.845000	0.48019	0.654000	0.24918	0.510000	0.28216	0.561000	0.74099	GGC		0.697	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		10	17	1	0	2.27111e-07	0.001368	2.59901e-07	10	17				
POU4F2	5458	broad.mit.edu	37	4	147561536	147561536	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:147561536G>T	ENST00000281321.3	+	2	1054	c.806G>T	c.(805-807)cGc>cTc	p.R269L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	269	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AAGCAGCGACGCATCAAGCTG	0.687																																							uc003ikv.2		NA																	0				breast(1)	1						c.(805-807)CGC>CTC		Brn3b POU domain transcription factor							35.0	37.0	36.0					4																	147561536		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561536G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.806G>T	4.37:g.147561536G>T	ENSP00000281321:p.Arg269Leu						p.R269L	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1054	+	all_hematologic(180;0.151)		269			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.806G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526612	0.85706	.	.	ENSG00000151615	ENST00000281321	D	0.90069	-2.61	5.42	5.42	0.78866	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96062	0.9039	10	0.87932	D	0	.	19.2306	0.93839	0.0:0.0:1.0:0.0	.	269	Q12837	PO4F2_HUMAN	L	269	ENSP00000281321:R269L	ENSP00000281321:R269L	R	+	2	0	POU4F2	147780986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.834000	0.99428	2.561000	0.86390	0.462000	0.41574	CGC		0.687	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	15	1	0	5.18039e-06	0.00308	5.70876e-06	7	15				
LRBA	987	broad.mit.edu	37	4	151604712	151604712	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:151604712G>A	ENST00000357115.3	-	37	6155	c.5912C>T	c.(5911-5913)tCt>tTt	p.S1971F	LRBA_ENST00000535741.1_Missense_Mutation_p.S1971F|LRBA_ENST00000510413.1_Missense_Mutation_p.S1971F|LRBA_ENST00000507224.1_Missense_Mutation_p.S1971F	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1971						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCTCACTGCAGAATTTCCCCA	0.403																																							uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(5911-5913)TCT>TTT		LPS-responsive vesicle trafficking, beach and							223.0	208.0	213.0					4																	151604712		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151604712G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5912C>T	4.37:g.151604712G>A	ENSP00000349629:p.Ser1971Phe					LRBA_uc003ilt.3_Missense_Mutation_p.S630F|LRBA_uc003ilu.3_Missense_Mutation_p.S1971F	p.S1971F	NM_006726	NP_006717	P50851	LRBA_HUMAN			37	6386	-	all_hematologic(180;0.151)		1971					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5912C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991910	0.74703	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.19	4.34	0.51931	Domain of unknown function DUF1088 (1);	0.128239	0.56097	D	0.000035	T	0.58438	0.2122	L	0.50333	1.59	0.80722	D	1	P;B	0.46784	0.884;0.413	P;B	0.55455	0.776;0.252	T	0.61212	-0.7108	10	0.54805	T	0.06	.	16.2341	0.82361	0.0:0.1328:0.8672:0.0	.	1971;1971	P50851;P50851-2	LRBA_HUMAN;.	F	1971	ENSP00000446299:S1971F;ENSP00000421552:S1971F;ENSP00000349629:S1971F;ENSP00000422180:S1971F	ENSP00000349629:S1971F	S	-	2	0	LRBA	151824162	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	6.671000	0.74472	1.301000	0.44836	0.585000	0.79938	TCT		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			9	71	0	0	0	0.006214	0	9	71				
ARFIP1	27236	broad.mit.edu	37	4	153803926	153803926	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:153803926G>C	ENST00000451320.2	+	7	849	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	ARFIP1_ENST00000356064.3_Missense_Mutation_p.E197Q|ARFIP1_ENST00000405727.2_Missense_Mutation_p.E197Q|ARFIP1_ENST00000429148.2_Missense_Mutation_p.E49Q|ARFIP1_ENST00000353617.2_Missense_Mutation_p.E229Q			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	229	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TAAAAATGGAGAGACTCTTCT	0.338																																							uc003imz.2		NA																	0				ovary(1)	1						c.(685-687)GAG>CAG		ADP-ribosylation factor interacting protein 1							101.0	105.0	103.0					4																	153803926		2203	4300	6503	SO:0001583	missense	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153803926G>C	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.685G>C	4.37:g.153803926G>C	ENSP00000395083:p.Glu229Gln					ARFIP1_uc003inb.2_Missense_Mutation_p.E197Q|ARFIP1_uc003ina.2_Missense_Mutation_p.E197Q|ARFIP1_uc003inc.2_Missense_Mutation_p.E229Q|ARFIP1_uc011cij.1_Missense_Mutation_p.E49Q	p.E229Q	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			7	961	+	all_hematologic(180;0.093)		229			AH.		Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	c.685G>C	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177132	0.94846	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	6.17	6.17	0.99709	Arfaptin-like (3);	0.042053	0.85682	D	0.000000	D	0.88998	0.6590	M	0.82193	2.58	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.996	D;D;D	0.70935	0.971;0.969;0.909	D	0.85264	0.1052	10	0.27082	T	0.32	-20.5659	20.8794	0.99867	0.0:0.0:1.0:0.0	.	49;197;229	B4DS69;Q2M2X4;P53367	.;.;ARFP1_HUMAN	Q	229;49;229;197;197	ENSP00000395083:E229Q;ENSP00000396653:E49Q;ENSP00000296557:E229Q;ENSP00000384189:E197Q;ENSP00000348360:E197Q	ENSP00000296557:E229Q	E	+	1	0	ARFIP1	154023376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG		0.338	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		8	20	0	0	0	0.00308	0	8	20				
SFRP2	6423	broad.mit.edu	37	4	154709967	154709967	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:154709967C>G	ENST00000274063.4	-	1	305	c.21G>C	c.(19-21)tcG>tcC	p.S7S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	7					bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GCAGCAGCAGCGAGCCAGGGC	0.711																																							uc003inv.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(19-21)TCG>TCC		secreted frizzled-related protein 2 precursor							8.0	10.0	9.0					4																	154709967		2109	4121	6230	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709967C>G	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.21G>C	4.37:g.154709967C>G							p.S7S	NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN			1	262	-	all_hematologic(180;0.093)	Renal(120;0.117)	7					B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.21G>C	CCDS34082.1																																																																																				0.711	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			11	4	0	0	0	0.008291	0	11	4				
FGA	2243	broad.mit.edu	37	4	155507680	155507680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:155507680C>A	ENST00000302053.3	-	5	979	c.901G>T	c.(901-903)Gga>Tga	p.G301*	FGA_ENST00000403106.3_Nonsense_Mutation_p.G301*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	301					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCAGGTCCAGAGCTCCCA	0.572																																					NSCLC(143;340 1922 20892 22370 48145)	NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(901-903)GGA>TGA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						95.0	103.0	100.0					4																	155507680		2203	4300	6503	SO:0001587	stop_gained	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507680C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.901G>T	4.37:g.155507680C>A	ENSP00000306361:p.Gly301*					FGA_uc003ioe.1_Nonsense_Mutation_p.G301*|FGA_uc003iof.1_Intron	p.G301*	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	959	-	all_hematologic(180;0.215)	Renal(120;0.0458)	301			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Nonsense_Mutation	SNP	ENST00000302053.3	37	c.901G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555709	0.65425	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	.	.	.	4.29	1.42	0.22433	.	4.837840	0.00357	N	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7284	0.18026	0.0:0.6433:0.1629:0.1939	.	.	.	.	X	301	.	ENSP00000306361:G301X	G	-	1	0	FGA	155727130	0.000000	0.05858	0.017000	0.16124	0.074000	0.17049	0.193000	0.17116	0.419000	0.25927	0.551000	0.68910	GGA		0.572	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		52	79	1	0	4.02871e-13	0.00361	5.18743e-13	52	79				
FSTL5	56884	broad.mit.edu	37	4	162577480	162577480	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:162577480A>G	ENST00000306100.5	-	7	1330	c.894T>C	c.(892-894)aaT>aaC	p.N298N	FSTL5_ENST00000427802.2_Splice_Site_p.N297N|FSTL5_ENST00000379164.4_Splice_Site_p.N297N|FSTL5_ENST00000536695.1_Splice_Site_p.N297N|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	298	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.N298N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTACTCACATTGATGTCTT	0.348																																							uc003iqh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(892-894)AAT>AAC		follistatin-like 5 isoform a							35.0	36.0	36.0					4																	162577480		2203	4298	6501	SO:0001630	splice_region_variant	56884					extracellular region	calcium ion binding	g.chr4:162577480A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.894+1T>C	4.37:g.162577480A>G						FSTL5_uc003iqi.2_Silent_p.N297N|FSTL5_uc010iqv.2_Silent_p.N297N	p.N298N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1330	-	all_hematologic(180;0.24)		298			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.894T>C	CCDS3802.1																																																																																				0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	Silent	3	8	0	0	0	0.004672	0	3	8				
FSTL5	56884	broad.mit.edu	37	4	162577485	162577485	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:162577485T>G	ENST00000306100.5	-	7	1325	c.889A>C	c.(889-891)Atc>Ctc	p.I297L	FSTL5_ENST00000427802.2_Missense_Mutation_p.I296L|FSTL5_ENST00000379164.4_Missense_Mutation_p.I296L|FSTL5_ENST00000536695.1_Missense_Mutation_p.I296L|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	297	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTCACATTGATGTCTTCCAAA	0.338																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(889-891)ATC>CTC		follistatin-like 5 isoform a							39.0	40.0	40.0					4																	162577485		2203	4299	6502	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162577485T>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.889A>C	4.37:g.162577485T>G	ENSP00000305334:p.Ile297Leu					FSTL5_uc003iqi.2_Missense_Mutation_p.I296L|FSTL5_uc010iqv.2_Missense_Mutation_p.I296L	p.I297L	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1325	-	all_hematologic(180;0.24)		297			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.889A>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183022	0.57800	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70369	0.3216	L	0.48260	1.515	0.80722	D	1	B;P;B	0.37500	0.219;0.597;0.069	B;B;B	0.31869	0.113;0.137;0.078	T	0.73157	-0.4071	10	0.49607	T	0.09	.	14.7699	0.69668	0.0:0.0:0.0:1.0	.	296;296;297	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	297;296;296;296	ENSP00000305334:I297L;ENSP00000368462:I296L;ENSP00000389270:I296L;ENSP00000440409:I296L	ENSP00000305334:I297L	I	-	1	0	FSTL5	162796935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.858000	0.69532	2.149000	0.67028	0.528000	0.53228	ATC		0.338	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		4	7	0	0	0	0.009096	0	4	7				
MARCH1	55016	broad.mit.edu	37	4	165118530	165118530	+	Intron	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:165118530T>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTAAGCTCTTGAGGTTTTCT	0.418																																							uc011cjk.1		NA																	0					0						c.(334-336)AAG>TAG		acidic nuclear phosphoprotein 32C							158.0	159.0	159.0					4																	165118530		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118530T>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85716A>T	4.37:g.165118530T>A						MARCH1_uc003iqs.1_Intron	p.K112*	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	334	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	112			LRR 4.		D3DP29|Q9NWR0	Nonsense_Mutation	SNP	ENST00000503008.1	37	c.334A>T	CCDS54814.1																																																																																				0.418	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		46	22	0	0	0	0.002852	0	46	22				
IRF2	3660	broad.mit.edu	37	4	185339812	185339812	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:185339812T>A	ENST00000393593.3	-	4	445	c.238A>T	c.(238-240)Aat>Tat	p.N80Y	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	80					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CATCTGAAATTCGCCTTCCAT	0.388																																							uc003iwf.3		NA																	0				ovary(1)	1						c.(238-240)AAT>TAT		interferon regulatory factor 2							102.0	98.0	99.0					4																	185339812		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185339812T>A		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.238A>T	4.37:g.185339812T>A	ENSP00000377218:p.Asn80Tyr						p.N80Y	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	4	438	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	80			IRF tryptophan pentad repeat.		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.238A>T	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045141	0.75846	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	4.96	4.96	0.65561	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.188691	0.56097	D	0.000027	D	0.98785	0.9591	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99529	1.0960	10	0.87932	D	0	-17.8591	11.7275	0.51718	0.0:0.0:0.1473:0.8527	.	80	P14316	IRF2_HUMAN	Y	80	ENSP00000377218:N80Y;ENSP00000427204:N80Y;ENSP00000424552:N80Y;ENSP00000422860:N80Y	ENSP00000377218:N80Y	N	-	1	0	IRF2	185576806	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.020000	0.70826	2.212000	0.71576	0.459000	0.35465	AAT		0.388	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			12	4	0	0	0	0.001368	0	12	4				
ACSL1	2180	broad.mit.edu	37	4	185687118	185687118	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:185687118C>A	ENST00000515030.1	-	14	1611	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	ACSL1_ENST00000504342.1_Missense_Mutation_p.R429L|ACSL1_ENST00000281455.2_Missense_Mutation_p.R429L|ACSL1_ENST00000507295.1_Missense_Mutation_p.R395L|ACSL1_ENST00000513317.1_Missense_Mutation_p.R429L|ACSL1_ENST00000437665.3_Missense_Mutation_p.R258L|ACSL1_ENST00000454703.2_Missense_Mutation_p.R258L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	429					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCATCAGCCGGACTCTTCC	0.647																																							uc003iww.2		NA																	0				ovary(2)	2						c.(1285-1287)CGG>CTG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						57.0	58.0	58.0					4																	185687118		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185687118C>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1286G>T	4.37:g.185687118C>A	ENSP00000422607:p.Arg429Leu					ACSL1_uc011ckm.1_Missense_Mutation_p.R258L|ACSL1_uc003iwt.1_Missense_Mutation_p.R429L|ACSL1_uc003iwu.1_Missense_Mutation_p.R429L|ACSL1_uc011ckn.1_Missense_Mutation_p.R395L|ACSL1_uc003iws.1_5'UTR	p.R429L	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	14	1580	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	429			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1286G>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326550	0.60743	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.34	4.5	0.54988	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.80470	0.4629	H	0.97707	4.06	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.69307	0.933;0.963;0.963	D	0.86455	0.1775	10	0.87932	D	0	-18.0992	12.3766	0.55283	0.0:0.8589:0.0:0.1411	.	395;429;429	E7EPM6;B7Z452;P33121	.;.;ACSL1_HUMAN	L	258;429;35;429;395;258;429;429	ENSP00000407165:R258L;ENSP00000422607:R429L;ENSP00000425098:R35L;ENSP00000281455:R429L;ENSP00000426244:R395L;ENSP00000405687:R258L;ENSP00000425006:R429L;ENSP00000426150:R429L	ENSP00000281455:R429L	R	-	2	0	ACSL1	185924112	0.109000	0.22037	0.415000	0.26534	0.202000	0.24057	3.848000	0.55903	1.385000	0.46445	0.655000	0.94253	CGG		0.647	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		27	17	1	0	1.5548e-18	0.005443	2.2307e-18	27	17				
PDLIM3	27295	broad.mit.edu	37	4	186429513	186429513	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:186429513T>C	ENST00000284770.5	-	5	675	c.602A>G	c.(601-603)aAt>aGt	p.N201S	PDLIM3_ENST00000284771.6_Intron|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	201					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TTCCATAATATTGTCATCTGA	0.418																																							uc003ixw.3		NA																	0				ovary(2)	2						c.(601-603)AAT>AGT		PDZ and LIM domain protein 3 isoform a							132.0	121.0	125.0					4																	186429513		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186429513T>C	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.602A>G	4.37:g.186429513T>C	ENSP00000284770:p.Asn201Ser					PDLIM3_uc003ixx.3_Intron|PDLIM3_uc010isi.2_Intron	p.N201S	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	5	726	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	201					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.602A>G	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992414	0.74703	.	.	ENSG00000154553	ENST00000284770	T	0.40476	1.03	5.82	5.82	0.92795	ZASP (1);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.66378	2.025	0.80722	D	1	D	0.71674	0.998	D	0.70716	0.97	T	0.55642	-0.8109	10	0.13108	T	0.6	-32.0951	16.1777	0.81874	0.0:0.0:0.0:1.0	.	201	Q53GG5	PDLI3_HUMAN	S	201	ENSP00000284770:N201S	ENSP00000284770:N201S	N	-	2	0	PDLIM3	186666507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.403000	0.59729	2.222000	0.72286	0.383000	0.25322	AAT		0.418	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		30	14	0	0	0	0.007291	0	30	14				
AHRR	57491	broad.mit.edu	37	5	433020	433020	+	Missense_Mutation	SNP	G	G	T	rs545599373	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:433020G>T	ENST00000505113.1	+	10	1126	c.1082G>T	c.(1081-1083)cGg>cTg	p.R361L	AHRR_ENST00000506456.1_Missense_Mutation_p.R217L|AHRR_ENST00000512529.1_Missense_Mutation_p.R207L|AHRR_ENST00000316418.5_Missense_Mutation_p.R379L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTGTGCCTCCGGGGTGGCCCT	0.672																																							uc003jav.2		NA																	0				breast(2)	2						c.(1135-1137)CGG>CTG		arylhydrocarbon receptor repressor							20.0	23.0	22.0					5																	433020		1956	4122	6078	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:433020G>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1082G>T	5.37:g.433020G>T	ENSP00000424601:p.Arg361Leu					AHRR_uc003jaw.2_Missense_Mutation_p.R357L|AHRR_uc010isy.2_Missense_Mutation_p.R207L|AHRR_uc010isz.2_Missense_Mutation_p.R357L|AHRR_uc003jax.2_Missense_Mutation_p.R120L|AHRR_uc003jay.2_Missense_Mutation_p.R217L|AHRR_uc003jaz.2_5'UTR	p.R379L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		11	1180	+			361					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1136G>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	7.067	0.567529	0.13560	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.23348	2.23;2.23;1.91;1.91	3.9	3.02	0.34903	.	0.377486	0.28504	N	0.015115	T	0.28632	0.0709	M	0.68317	2.08	0.09310	N	1	D;B;P	0.55800	0.973;0.36;0.712	P;B;B	0.45449	0.481;0.065;0.185	T	0.15292	-1.0442	10	0.56958	D	0.05	.	8.0517	0.30581	0.1209:0.0:0.8791:0.0	.	217;361;379	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	L	361;379;207;217	ENSP00000424601:R361L;ENSP00000323816:R379L;ENSP00000424880:R207L;ENSP00000426932:R217L	ENSP00000323816:R379L	R	+	2	0	AHRR	486020	0.901000	0.30685	0.080000	0.20451	0.061000	0.15899	0.688000	0.25422	0.960000	0.38005	0.555000	0.69702	CGG		0.672	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		22	36	1	0	1.50039e-11	0.001882	1.88181e-11	22	36				
TERT	7015	broad.mit.edu	37	5	1293516	1293516	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:1293516G>A	ENST00000310581.5	-	2	1542	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Silent_p.I495I|TERT_ENST00000334602.6_Silent_p.I495I|TERT_ENST00000508104.2_Silent_p.I495I	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	495	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCCCCAGGGAGATGAACTTCT	0.667									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																														uc003jcb.1		NA																	0				lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(1483-1485)ATC>ATT		telomerase reverse transcriptase isoform 1							47.0	46.0	46.0					5																	1293516		2199	4300	6499	SO:0001819	synonymous_variant	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1293516G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1485C>T	5.37:g.1293516G>A						TERT_uc003jca.1_Silent_p.I495I|TERT_uc003jcc.1_Silent_p.I495I|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.I495I	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	1543	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		495			Required for oligomerization.|RNA-interacting domain 2.|QFP motif.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.1485C>T	CCDS3861.2																																																																																				0.667	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			30	42	0	0	0	0.002096	0	30	42				
TERT	7015	broad.mit.edu	37	5	1294381	1294381	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:1294381A>T	ENST00000310581.5	-	2	677	c.620T>A	c.(619-621)gTc>gAc	p.V207D	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Missense_Mutation_p.V207D|TERT_ENST00000334602.6_Missense_Mutation_p.V207D|TERT_ENST00000508104.2_Missense_Mutation_p.V207D	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	207	RNA-interacting domain 1.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGCCTCCCTGACGCTATGGTT	0.736									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																														uc003jcb.1		NA																	0				lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(619-621)GTC>GAC		telomerase reverse transcriptase isoform 1							5.0	7.0	6.0					5																	1294381		2048	4132	6180	SO:0001583	missense	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1294381A>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.620T>A	5.37:g.1294381A>T	ENSP00000309572:p.Val207Asp					TERT_uc003jca.1_Missense_Mutation_p.V207D|TERT_uc003jcc.1_Missense_Mutation_p.V207D|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.V207D	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	678	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		207			RNA-interacting domain 1.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.620T>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	A	6.506	0.461655	0.12342	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96885	-4.16;-4.14;-4.06;-4.14	1.83	-3.33	0.04958	.	3.823050	0.01100	N	0.005352	D	0.85013	0.5600	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.81949	-0.0699	10	0.15952	T	0.53	-30.3816	0.6887	0.00887	0.1713:0.2554:0.158:0.4152	.	207;207;207	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	D	207	ENSP00000309572:V207D;ENSP00000296820:V207D;ENSP00000334346:V207D;ENSP00000426042:V207D	ENSP00000296820:V207D	V	-	2	0	TERT	1347381	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.386000	0.02537	-0.764000	0.04651	-0.695000	0.03696	GTC		0.736	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			12	20	0	0	0	0.00245	0	12	20				
LPCAT1	79888	broad.mit.edu	37	5	1501688	1501688	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:1501688C>A	ENST00000283415.3	-	2	298	c.166G>T	c.(166-168)Gtc>Ttc	p.V56F		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	56					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGGAGCCGGACCGGGAAGAGC	0.662																																							uc003jcm.2		NA																	0				ovary(2)	2						c.(166-168)GTC>TTC		lysophosphatidylcholine acyltransferase 1							42.0	50.0	48.0					5																	1501688		2202	4300	6502	SO:0001583	missense	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1501688C>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.166G>T	5.37:g.1501688C>A	ENSP00000283415:p.Val56Phe						p.V56F	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	2	283	-			56			Cytoplasmic (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.166G>T	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	8.577	0.881326	0.17467	.	.	ENSG00000153395	ENST00000283415	T	0.71222	-0.55	4.35	-8.7	0.00851	.	0.323197	0.32068	N	0.006630	T	0.47135	0.1429	N	0.25485	0.75	0.21499	N	0.999669	B	0.09022	0.002	B	0.19391	0.025	T	0.10200	-1.0640	10	0.37606	T	0.19	-8.1782	8.9749	0.35930	0.0:0.0975:0.1905:0.712	.	56	Q8NF37	PCAT1_HUMAN	F	56	ENSP00000283415:V56F	ENSP00000283415:V56F	V	-	1	0	LPCAT1	1554688	0.014000	0.17966	0.001000	0.08648	0.035000	0.12851	0.079000	0.14782	-2.347000	0.00620	0.491000	0.48974	GTC		0.662	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		42	40	1	0	9.85913e-13	0.009718	1.26275e-12	42	40				
ADCY2	108	broad.mit.edu	37	5	7626323	7626323	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:7626323G>C	ENST00000338316.4	+	4	703	c.614G>C	c.(613-615)gGa>gCa	p.G205A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	205				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACCTGGCGGGAGCCTACCAT	0.443																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(613-615)GGA>GCA		adenylate cyclase 2							160.0	155.0	156.0					5																	7626323		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626323G>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.614G>C	5.37:g.7626323G>C	ENSP00000342952:p.Gly205Ala						p.G205A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			4	681	+			205	VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).		Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.614G>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446540	0.84101	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	D	0.82619	-1.63	5.09	5.09	0.68999	.	0.128393	0.53938	D	0.000047	D	0.92221	0.7533	M	0.89840	3.065	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.93684	0.7001	10	0.87932	D	0	.	16.0304	0.80574	0.0:0.0:1.0:0.0	.	205	Q08462	ADCY2_HUMAN	A	205;56	ENSP00000342952:G205A	ENSP00000342952:G205A	G	+	2	0	ADCY2	7679323	1.000000	0.71417	0.525000	0.27900	0.894000	0.52154	9.016000	0.93645	2.520000	0.84964	0.655000	0.94253	GGA		0.443	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		55	110	0	0	0	0.00361	0	55	110				
MTRR	4552	broad.mit.edu	37	5	7897015	7897015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:7897015G>T	ENST00000264668.2	+	13	1826	c.1796G>T	c.(1795-1797)gGa>gTa	p.G599V	MTRR_ENST00000440940.2_Missense_Mutation_p.G572V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	599					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GGAAATTTTGGAGCAATGTGG	0.348																																							uc003jed.2		NA																	0				ovary(1)	1						c.(1795-1797)GGA>GTA		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						59.0	63.0	61.0					5																	7897015		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7897015G>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1796G>T	5.37:g.7897015G>T	ENSP00000264668:p.Gly599Val					MTRR_uc003jee.3_Missense_Mutation_p.G572V|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.G599V	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			13	1826	+			599					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.1796G>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.680144	0.88542	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.80566	-1.39;-1.39	5.33	5.33	0.75918	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.92414	0.7592	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93903	0.7190	10	0.72032	D	0.01	-28.7734	19.0483	0.93030	0.0:0.0:1.0:0.0	.	599	Q9UBK8	MTRR_HUMAN	V	599;572	ENSP00000264668:G599V;ENSP00000402510:G572V	ENSP00000264668:G599V	G	+	2	0	MTRR	7950015	1.000000	0.71417	0.744000	0.31058	0.994000	0.84299	8.493000	0.90474	2.495000	0.84180	0.655000	0.94253	GGA		0.348	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			33	48	1	0	1.30998e-17	0.005524	1.84928e-17	33	48				
SEMA5A	9037	broad.mit.edu	37	5	9066620	9066620	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:9066620C>A	ENST00000382496.5	-	17	2877	c.2212G>T	c.(2212-2214)Gct>Tct	p.A738S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	738	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTCGGATCAGCCAGGCGGGCT	0.542																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2212-2214)GCT>TCT		semaphorin 5A precursor							161.0	152.0	155.0					5																	9066620		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066620C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2212G>T	5.37:g.9066620C>A	ENSP00000371936:p.Ala738Ser						p.A738S	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2924	-			738			TSP type-1 4.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2212G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014868	0.54468	.	.	ENSG00000112902	ENST00000382496	T	0.35048	1.33	5.82	4.96	0.65561	.	0.048467	0.85682	D	0.000000	T	0.28466	0.0704	L	0.28400	0.85	0.24743	N	0.993029	B	0.09022	0.002	B	0.08055	0.003	T	0.18272	-1.0342	10	0.48119	T	0.1	.	13.4583	0.61212	0.0:0.3008:0.6992:0.0	.	738	Q13591	SEM5A_HUMAN	S	738	ENSP00000371936:A738S	ENSP00000371936:A738S	A	-	1	0	SEMA5A	9119620	1.000000	0.71417	0.995000	0.50966	0.836000	0.47400	3.479000	0.53165	1.483000	0.48342	-0.197000	0.12766	GCT		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			83	116	1	0	1.68737e-39	0.00361	2.98024e-39	83	116				
ROPN1L	83853	broad.mit.edu	37	5	10465002	10465002	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:10465002C>A	ENST00000503804.1	+	6	1157	c.636C>A	c.(634-636)ttC>ttA	p.F212L	ROPN1L_ENST00000510520.1_Intron|ROPN1L_ENST00000274134.4_Missense_Mutation_p.F212L			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	212					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CAGATTTCTTCTTTCCAAAGA	0.318																																							uc003jex.3		NA																	0				ovary(1)	1						c.(634-636)TTC>TTA		ropporin 1-like							72.0	81.0	78.0					5																	10465002		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10465002C>A	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.636C>A	5.37:g.10465002C>A	ENSP00000421405:p.Phe212Leu						p.F212L	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			5	907	+			212					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.636C>A	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	C	7.038	0.562051	0.13498	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.20332	2.08;2.08	4.57	3.7	0.42460	.	0.862910	0.10089	N	0.717349	T	0.10809	0.0264	N	0.14661	0.345	0.26741	N	0.970384	B	0.06786	0.001	B	0.06405	0.002	T	0.37820	-0.9689	10	0.11182	T	0.66	-13.6142	6.0628	0.19846	0.1856:0.7159:0.0:0.0985	.	212	Q96C74	ROP1L_HUMAN	L	212	ENSP00000421405:F212L;ENSP00000274134:F212L	ENSP00000274134:F212L	F	+	3	2	ROPN1L	10518002	0.087000	0.21565	0.793000	0.32043	0.786000	0.44442	0.431000	0.21444	1.058000	0.40530	0.558000	0.71614	TTC		0.318	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		31	99	1	0	2.81731e-10	0.002096	3.442e-10	31	99				
CTNND2	1501	broad.mit.edu	37	5	10973694	10973694	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:10973694G>T	ENST00000304623.8	-	22	3738	c.3549C>A	c.(3547-3549)agC>agA	p.S1183R	CTNND2_ENST00000359640.2_Missense_Mutation_p.S1125R|CTNND2_ENST00000503622.1_Missense_Mutation_p.S846R|CTNND2_ENST00000511377.1_Missense_Mutation_p.S1092R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.S750R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1183					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S1183S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGTGTACTCGCTGGCGGGAG	0.522																																							uc003jfa.1		NA																	1	Substitution - coding silent(1)		kidney(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(3547-3549)AGC>AGA		catenin (cadherin-associated protein), delta 2							137.0	120.0	125.0					5																	10973694		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973694G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3549C>A	5.37:g.10973694G>T	ENSP00000307134:p.Ser1183Arg					CTNND2_uc010itt.2_Missense_Mutation_p.S1092R|CTNND2_uc011cmy.1_Missense_Mutation_p.S846R|CTNND2_uc011cmz.1_Missense_Mutation_p.S750R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S775R	p.S1183R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			22	3694	-			1183					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3549C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849066	0.32699	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77358	-0.97;-1.02;-0.96;-1.09;-1.08	5.93	4.15	0.48705	.	0.279753	0.43260	D	0.000597	T	0.67135	0.2861	N	0.19112	0.55	0.49130	D	0.999751	B;B;D	0.55385	0.307;0.307;0.971	B;B;P	0.46320	0.043;0.031;0.512	T	0.71255	-0.4647	10	0.72032	D	0.01	-25.3397	10.3421	0.43884	0.2128:0.0:0.7872:0.0	.	846;775;1183	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	R	1183;1125;1092;278;750;846	ENSP00000307134:S1183R;ENSP00000352661:S1125R;ENSP00000426510:S1092R;ENSP00000391155:S750R;ENSP00000426887:S846R	ENSP00000307134:S1183R	S	-	3	2	CTNND2	11026694	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.435000	0.21510	1.517000	0.48917	0.655000	0.94253	AGC		0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		47	64	1	0	9.58827e-17	0.00361	1.3274e-16	47	64				
CTNND2	1501	broad.mit.edu	37	5	11082867	11082867	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:11082867C>A	ENST00000304623.8	-	16	2918	c.2729G>T	c.(2728-2730)tGc>tTc	p.C910F	CTNND2_ENST00000359640.2_Missense_Mutation_p.C852F|CTNND2_ENST00000503622.1_Missense_Mutation_p.C573F|CTNND2_ENST00000511377.1_Missense_Mutation_p.C819F|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.C477F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCCACCGCGCACACCACACG	0.527																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2728-2730)TGC>TTC		catenin (cadherin-associated protein), delta 2							126.0	111.0	116.0					5																	11082867		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082867C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2729G>T	5.37:g.11082867C>A	ENSP00000307134:p.Cys910Phe					CTNND2_uc010itt.2_Missense_Mutation_p.C819F|CTNND2_uc011cmy.1_Missense_Mutation_p.C573F|CTNND2_uc011cmz.1_Missense_Mutation_p.C477F|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.C502F	p.C910F	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2874	-			910			ARM 8.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2729G>T	CCDS3881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.596897|4.596897	0.87055|0.87055	.|.	.|.	ENSG00000169862|ENSG00000169862	ENST00000538638|ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.|T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.80649	.|0.4663	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.997;0.996	.|D;D;D	.|0.83275	.|0.996;0.996;0.996	.|T	.|0.81797	.|-0.0768	.|10	.|0.59425	.|D	.|0.04	.|-15.6584	18.7557|18.7557	0.91832|0.91832	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|573;502;910	.|B4DRK2;B4DG58;Q9UQB3	.|.;.;CTND2_HUMAN	.|F	-1|910;852;819;477;573	.|ENSP00000307134:C910F;ENSP00000352661:C852F;ENSP00000426510:C819F;ENSP00000391155:C477F;ENSP00000426887:C573F	.|ENSP00000307134:C910F	.|C	-|-	.|2	.|0	CTNND2|CTNND2	11135867|11135867	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.969000|0.969000	0.65631|0.65631	6.042000|6.042000	0.70996|0.70996	2.505000|2.505000	0.84491|0.84491	0.563000|0.563000	0.77884|0.77884	.|TGC		0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		40	78	1	0	2.6416e-12	0.00623	3.35888e-12	40	78				
CTNND2	1501	broad.mit.edu	37	5	11565065	11565065	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:11565065C>G	ENST00000304623.8	-	3	467	c.278G>C	c.(277-279)aGc>aCc	p.S93T	CTNND2_ENST00000359640.2_Missense_Mutation_p.S93T|CTNND2_ENST00000503622.1_Missense_Mutation_p.S2T|CTNND2_ENST00000511377.1_Missense_Mutation_p.S2T|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	93					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTCATGCTGCTCATGCTGCC	0.542																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(277-279)AGC>ACC		catenin (cadherin-associated protein), delta 2							104.0	75.0	85.0					5																	11565065		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11565065C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.278G>C	5.37:g.11565065C>G	ENSP00000307134:p.Ser93Thr					CTNND2_uc010itt.2_Missense_Mutation_p.S2T|CTNND2_uc011cmy.1_Missense_Mutation_p.S2T|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.S93T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			3	423	-			93					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.278G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557890	0.45590	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;T	0.80214	-0.95;-1.02;-1.17;-1.35	5.67	4.81	0.61882	.	0.127475	0.49305	D	0.000158	T	0.60702	0.2289	N	0.04636	-0.2	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55933	-0.8062	10	0.23891	T	0.37	-14.8396	12.5297	0.56106	0.0:0.9191:0.0:0.0809	.	2;93	B4DRK2;Q9UQB3	.;CTND2_HUMAN	T	93;93;2;2;79;2;79	ENSP00000307134:S93T;ENSP00000352661:S93T;ENSP00000426510:S2T;ENSP00000426887:S2T	ENSP00000307134:S93T	S	-	2	0	CTNND2	11618065	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.887000	0.39698	1.541000	0.49316	0.655000	0.94253	AGC		0.542	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		16	39	0	0	0	0.004007	0	16	39				
DNAH5	1767	broad.mit.edu	37	5	13769204	13769204	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:13769204C>A	ENST00000265104.4	-	58	9866	c.9762G>T	c.(9760-9762)aaG>aaT	p.K3254N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3254	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCCTTGACCTTTTCAGCAG	0.423									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9760-9762)AAG>AAT		dynein, axonemal, heavy chain 5							291.0	286.0	288.0					5																	13769204		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13769204C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9762G>T	5.37:g.13769204C>A	ENSP00000265104:p.Lys3254Asn					DNAH5_uc003jfc.2_Translation_Start_Site	p.K3254N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			58	9804	-	Lung NSC(4;0.00476)		3254			Stalk (By similarity).|Potential.		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9762G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261060	0.59431	.	.	ENSG00000039139	ENST00000265104	T	0.78246	-1.16	5.76	3.99	0.46301	Dynein heavy chain, coiled coil stalk (1);	0.288557	0.36932	N	0.002335	D	0.88179	0.6367	H	0.94964	3.605	0.53688	D	0.999978	P	0.49559	0.925	P	0.62885	0.908	D	0.86355	0.1713	10	0.48119	T	0.1	.	5.2451	0.15493	0.1342:0.5899:0.0:0.2759	.	3254	Q8TE73	DYH5_HUMAN	N	3254	ENSP00000265104:K3254N	ENSP00000265104:K3254N	K	-	3	2	DNAH5	13822204	0.503000	0.26115	0.999000	0.59377	0.984000	0.73092	-0.029000	0.12329	0.902000	0.36520	0.655000	0.94253	AAG		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		158	354	1	0	3.54725e-78	0.00361	6.66056e-78	158	354				
DNAH5	1767	broad.mit.edu	37	5	13891206	13891206	+	Missense_Mutation	SNP	C	C	A	rs200486203		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:13891206C>A	ENST00000265104.4	-	17	2560	c.2456G>T	c.(2455-2457)aGg>aTg	p.R819M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	819	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCATTGACCCTGTCAAGCAG	0.388									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2455-2457)AGG>ATG		dynein, axonemal, heavy chain 5							87.0	91.0	89.0					5																	13891206		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13891206C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2456G>T	5.37:g.13891206C>A	ENSP00000265104:p.Arg819Met						p.R819M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			17	2498	-	Lung NSC(4;0.00476)		819			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2456G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541632	0.65085	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	5.56	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.80183	2.485	0.58432	D	0.999999	B	0.27498	0.18	B	0.29942	0.109	T	0.26121	-1.0112	10	0.52906	T	0.07	.	14.8356	0.70180	0.0:0.9306:0.0:0.0694	.	819	Q8TE73	DYH5_HUMAN	M	819	ENSP00000265104:R819M	ENSP00000265104:R819M	R	-	2	0	DNAH5	13944206	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	4.624000	0.61254	1.493000	0.48517	0.650000	0.86243	AGG		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		72	124	1	0	9.07738e-34	0.00361	1.55222e-33	72	124				
FBXL7	23194	broad.mit.edu	37	5	15928421	15928422	+	Nonsense_Mutation	DNP	GT	GT	TA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:15928421_15928422GT>TA	ENST00000504595.1	+	3	1031_1032	c.550_551GT>TA	c.(550-552)GTg>TAg	p.V184*	FBXL7_ENST00000510662.1_Nonsense_Mutation_p.V137*|FBXL7_ENST00000329673.7_Nonsense_Mutation_p.V172*	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	184					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACCCCCAACGTGTGTCTCATG	0.649																																							uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(550-552)GTG>TAG		F-box and leucine-rich repeat protein 7																																				SO:0001587	stop_gained	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928421_15928422GT>TA	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		Exception_encountered	5.37:g.15928421_15928422delinsTA	ENSP00000423630:p.Val184*						p.V184*	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	1031_1032	+			184			LRR 1.		B9EGF1|D6RDY7|O94926	Nonsense_Mutation	DNP	ENST00000504595.1	37	c.550_551GT>TA	CCDS54833.1																																																																																				0.649	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		21	27	0	0	0	0.004672	0	21	27				
CDH18	1016	broad.mit.edu	37	5	19721528	19721528	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:19721528A>C	ENST00000507958.1	-	7	1561	c.571T>G	c.(571-573)Tat>Gat	p.Y191D	CDH18_ENST00000382275.1_Missense_Mutation_p.Y191D|CDH18_ENST00000506372.1_Missense_Mutation_p.Y191D|CDH18_ENST00000511273.1_Missense_Mutation_p.Y191D|CDH18_ENST00000502796.1_Missense_Mutation_p.Y191D|CDH18_ENST00000274170.4_Missense_Mutation_p.Y191D			Q13634	CAD18_HUMAN	cadherin 18, type 2	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTTTCCATAGGTAGGGTCA	0.448																																							uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(571-573)TAT>GAT		cadherin 18, type 2 preproprotein							146.0	131.0	136.0					5																	19721528		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721528A>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.571T>G	5.37:g.19721528A>C	ENSP00000425093:p.Tyr191Asp					CDH18_uc003jgd.2_Missense_Mutation_p.Y191D|CDH18_uc011cnm.1_Missense_Mutation_p.Y191D	p.Y191D	NM_004934	NP_004925	Q13634	CAD18_HUMAN			4	948	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		191			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.571T>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924786	0.92319	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	L	0.52126	1.63	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	T	0.61232	-0.7104	9	.	.	.	.	14.4318	0.67257	1.0:0.0:0.0:0.0	.	191;191	B4DHG6;Q13634	.;CAD18_HUMAN	D	191;191;191;191;191;191;137;191	ENSP00000371710:Y191D;ENSP00000425093:Y191D;ENSP00000274170:Y191D;ENSP00000424931:Y191D;ENSP00000422138:Y191D;ENSP00000427383:Y137D;ENSP00000425854:Y191D	.	Y	-	1	0	CDH18	19757285	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.273000	0.95719	2.078000	0.62432	0.528000	0.53228	TAT		0.448	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		22	95	0	0	0	0.001882	0	22	95				
CDH10	1008	broad.mit.edu	37	5	24487969	24487969	+	Missense_Mutation	SNP	C	C	A	rs267600592		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:24487969C>A	ENST00000264463.4	-	12	2677	c.2170G>T	c.(2170-2172)Gac>Tac	p.D724Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	724					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCGGTGGGGTCAAGATCATGC	0.448										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(2170-2172)GAC>TAC		cadherin 10, type 2 preproprotein							104.0	108.0	106.0					5																	24487969		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487969C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2170G>T	5.37:g.24487969C>A	ENSP00000264463:p.Asp724Tyr	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D724Y	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2502	-			724			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2170G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634725	0.67130	.	.	ENSG00000040731	ENST00000264463	T	0.80653	-1.4	5.92	5.92	0.95590	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.91818	3.245	0.53005	D	0.999968	D	0.76494	0.999	D	0.67548	0.952	D	0.92916	0.6351	10	0.87932	D	0	.	19.3088	0.94175	0.0:1.0:0.0:0.0	.	724	Q9Y6N8	CAD10_HUMAN	Y	724	ENSP00000264463:D724Y	ENSP00000264463:D724Y	D	-	1	0	CDH10	24523726	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.943000	0.70211	2.809000	0.96659	0.655000	0.94253	GAC		0.448	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		41	76	1	0	7.63091e-17	0.007835	1.05869e-16	41	76				
CDH10	1008	broad.mit.edu	37	5	24491847	24491847	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:24491847C>A	ENST00000264463.4	-	11	2221	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTGGGTAATCATTGTCTGAT	0.433										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1714-1716)GAT>TAT		cadherin 10, type 2 preproprotein							141.0	119.0	127.0					5																	24491847		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491847C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1714G>T	5.37:g.24491847C>A	ENSP00000264463:p.Asp572Tyr	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D572Y	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2046	-			572			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1714G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891749	0.72524	.	.	ENSG00000040731	ENST00000264463	T	0.60171	0.21	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.100231	0.64402	D	0.000004	T	0.77778	0.4181	M	0.78916	2.43	0.52501	D	0.999959	D	0.54207	0.965	D	0.66847	0.947	T	0.78516	-0.2174	10	0.87932	D	0	.	19.5254	0.95203	0.0:1.0:0.0:0.0	.	572	Q9Y6N8	CAD10_HUMAN	Y	572	ENSP00000264463:D572Y	ENSP00000264463:D572Y	D	-	1	0	CDH10	24527604	1.000000	0.71417	0.988000	0.46212	0.765000	0.43378	5.963000	0.70372	2.857000	0.98124	0.650000	0.86243	GAT		0.433	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		23	41	1	0	7.41877e-09	0.001882	8.79241e-09	23	41				
CDH9	1007	broad.mit.edu	37	5	26916033	26916033	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:26916033C>A	ENST00000231021.4	-	3	401		c.e3-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGTGTGAAGCTTTAGAGAGG	0.343																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Unknown(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.e3-1		cadherin 9, type 2 preproprotein							56.0	58.0	57.0					5																	26916033		2203	4297	6500	SO:0001630	splice_region_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26916033C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.229-1G>T	5.37:g.26916033C>A						CDH9_uc010iug.2_Splice_Site_p.L77_splice	p.L77_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	398	-								Q3B7I5	Splice_Site	SNP	ENST00000231021.4	37	c.229_splice	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997056	0.74818	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1588	0.81683	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH9	26951790	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.358000	0.79466	2.202000	0.70862	0.585000	0.79938	.		0.343	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Intron	13	67	1	0	1.5842e-08	0.001855	1.8682e-08	13	67				
PDZD2	23037	broad.mit.edu	37	5	31799605	31799605	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:31799605G>T	ENST00000438447.1	+	2	638	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	PDZD2_ENST00000282493.3_Missense_Mutation_p.G84C			O15018	PDZD2_HUMAN	PDZ domain containing 2	84					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGAGACTGTGGGCCTGAGTTT	0.572																																							uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(250-252)GGC>TGC		PDZ domain containing 2							110.0	114.0	112.0					5																	31799605		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799605G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.250G>T	5.37:g.31799605G>T	ENSP00000402033:p.Gly84Cys					PDZD2_uc003jhm.2_Missense_Mutation_p.G84C	p.G84C	NM_178140	NP_835260	O15018	PDZD2_HUMAN			2	638	+			84					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.250G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672412	0.88348	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	D;D	0.83250	-1.7;-1.7	5.67	5.67	0.87782	PDZ/DHR/GLGF (2);	0.000000	0.45606	D	0.000355	D	0.87224	0.6124	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.88362	0.2988	10	0.87932	D	0	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	84	O15018	PDZD2_HUMAN	C	84	ENSP00000402033:G84C;ENSP00000282493:G84C	ENSP00000282493:G84C	G	+	1	0	PDZD2	31835362	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.055000	0.93873	2.661000	0.90470	0.655000	0.94253	GGC		0.572	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			130	132	1	0	1.83689e-69	0.00361	3.42911e-69	130	132				
ZFR	51663	broad.mit.edu	37	5	32390460	32390460	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:32390460C>A	ENST00000265069.8	-	12	2165	c.2063G>T	c.(2062-2064)gGt>gTt	p.G688V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	688					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATGAGGATAACCTCCATCTGG	0.532																																							uc003jhr.1		NA																	0					0						c.(2062-2064)GGT>GTT		zinc finger RNA binding protein							142.0	135.0	138.0					5																	32390460		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390460C>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2063G>T	5.37:g.32390460C>A	ENSP00000265069:p.Gly688Val					ZFR_uc011cny.1_5'Flank	p.G688V	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	12	2143	-			688					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2063G>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169975	0.38315	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05199	3.48	5.42	5.42	0.78866	.	0.091963	0.85682	D	0.000000	T	0.09468	0.0233	L	0.55481	1.735	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.22068	-1.0227	10	0.19147	T	0.46	.	19.2198	0.93791	0.0:1.0:0.0:0.0	.	688	Q96KR1	ZFR_HUMAN	V	688;666	ENSP00000265069:G688V	ENSP00000265069:G688V	G	-	2	0	ZFR	32426217	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.372000	0.59530	2.550000	0.86006	0.561000	0.74099	GGT		0.532	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			39	85	1	0	2.05212e-20	0.005524	3.05292e-20	39	85				
ZFR	51663	broad.mit.edu	37	5	32417849	32417849	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:32417849T>C	ENST00000265069.8	-	4	571	c.469A>G	c.(469-471)Agt>Ggt	p.S157G		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	157	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TATTGCTTACTATCATAAGCT	0.438																																							uc003jhr.1		NA																	0					0						c.(469-471)AGT>GGT		zinc finger RNA binding protein							128.0	127.0	127.0					5																	32417849		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32417849T>C	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.469A>G	5.37:g.32417849T>C	ENSP00000265069:p.Ser157Gly					ZFR_uc010iun.1_Missense_Mutation_p.S157G	p.S157G	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	4	549	-			157			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.469A>G	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999884	0.74818	.	.	ENSG00000056097	ENST00000265069;ENST00000382126;ENST00000416900	T	0.05786	3.39	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	L	0.34521	1.04	0.80722	D	1	P;P	0.49447	0.924;0.924	P;P	0.60682	0.827;0.878	T	0.00544	-1.1679	10	0.66056	D	0.02	.	16.3908	0.83537	0.0:0.0:0.0:1.0	.	157;157	B2RNR6;Q96KR1	.;ZFR_HUMAN	G	157;135;157	ENSP00000265069:S157G	ENSP00000265069:S157G	S	-	1	0	ZFR	32453606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.673000	0.83973	2.269000	0.75478	0.455000	0.32223	AGT		0.438	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			83	163	0	0	0	0.00361	0	83	163				
ADAMTS12	81792	broad.mit.edu	37	5	33527374	33527374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33527374G>T	ENST00000504830.1	-	24	5039	c.4704C>A	c.(4702-4704)tgC>tgA	p.C1568*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.C1483*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1568	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GACACGAGAAGCAGCACTCAG	0.493										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4702-4704)TGC>TGA		ADAM metallopeptidase with thrombospondin type 1							243.0	217.0	226.0					5																	33527374		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527374G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4704C>A	5.37:g.33527374G>T	ENSP00000422554:p.Cys1568*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.C1483*	p.C1568*	NM_030955	NP_112217	P58397	ATS12_HUMAN			24	4867	-			1568			PLAC.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.4704C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	45	11.654308	0.99587	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.93	3.15	0.36227	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1413	0.31084	0.2481:0.0:0.7519:0.0	.	.	.	.	X	1568;1483	.	ENSP00000344847:C1483X	C	-	3	2	ADAMTS12	33563131	0.986000	0.35501	0.718000	0.30602	0.986000	0.74619	2.052000	0.41316	0.824000	0.34613	0.655000	0.94253	TGC		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		101	306	1	0	4.49162e-49	0.00361	8.17197e-49	101	306				
ADAMTS12	81792	broad.mit.edu	37	5	33577021	33577021	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33577021C>A	ENST00000504830.1	-	19	3445	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G952V|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1037	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G1037A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGACTCAGGCCCTGTGGGTGT	0.527										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3109-3111)GGG>GTG		ADAM metallopeptidase with thrombospondin type 1							147.0	140.0	143.0					5																	33577021		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577021C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3110G>T	5.37:g.33577021C>A	ENSP00000422554:p.Gly1037Val	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.G952V	p.G1037V	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3273	-			1037			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3110G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504356	0.00992	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57595	0.39;0.4	5.15	0.0385	0.14200	.	0.806245	0.11366	N	0.571376	T	0.20251	0.0487	N	0.02539	-0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18555	-1.0333	10	0.18710	T	0.47	.	3.0206	0.06075	0.467:0.3278:0.0768:0.1284	.	952;1037	P58397-3;P58397	.;ATS12_HUMAN	V	1037;952	ENSP00000422554:G1037V;ENSP00000344847:G952V	ENSP00000344847:G952V	G	-	2	0	ADAMTS12	33612778	0.000000	0.05858	0.011000	0.14972	0.070000	0.16714	-0.162000	0.10012	-0.140000	0.11394	-0.274000	0.10170	GGG		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		90	111	1	0	7.63117e-38	0.00361	1.32961e-37	90	111				
ADAMTS12	81792	broad.mit.edu	37	5	33588798	33588798	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33588798G>T	ENST00000504830.1	-	18	3106	c.2771C>A	c.(2770-2772)aCa>aAa	p.T924K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T839K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	924	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGGCAGTCTGTGGGCGGGAG	0.627										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2770-2772)ACA>AAA		ADAM metallopeptidase with thrombospondin type 1							127.0	127.0	127.0					5																	33588798		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33588798G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2771C>A	5.37:g.33588798G>T	ENSP00000422554:p.Thr924Lys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.T839K	p.T924K	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	2934	-			924			TSP type-1 3.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2771C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.425	-0.906489	0.02453	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60171	0.21;0.21	6.08	2.83	0.33086	.	0.700955	0.15390	N	0.264851	T	0.28067	0.0692	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.20207	-1.0282	10	0.06099	T	0.92	.	9.9343	0.41541	0.0901:0.0:0.5488:0.3611	.	839;924	P58397-3;P58397	.;ATS12_HUMAN	K	924;839	ENSP00000422554:T924K;ENSP00000344847:T839K	ENSP00000344847:T839K	T	-	2	0	ADAMTS12	33624555	0.000000	0.05858	0.005000	0.12908	0.591000	0.36615	0.252000	0.18278	0.307000	0.22880	0.591000	0.81541	ACA		0.627	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		31	207	1	0	5.60225e-13	0.009535	7.19439e-13	31	207				
ADAMTS12	81792	broad.mit.edu	37	5	33624397	33624397	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33624397G>C	ENST00000504830.1	-	14	2417	c.2082C>G	c.(2080-2082)tgC>tgG	p.C694W	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	694	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCTCCCAGGCACACACCGC	0.512										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2080-2082)TGC>TGG		ADAM metallopeptidase with thrombospondin type 1							98.0	80.0	87.0					5																	33624397		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624397G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2082C>G	5.37:g.33624397G>C	ENSP00000422554:p.Cys694Trp	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.C694W	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2245	-			694			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2082C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.301964	0.60195	.	.	ENSG00000151388	ENST00000504830	T	0.72942	-0.7	5.87	3.13	0.36017	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89148	0.3521	10	0.87932	D	0	.	10.1377	0.42717	0.2644:0.0:0.7356:0.0	.	694	P58397	ATS12_HUMAN	W	694	ENSP00000422554:C694W	ENSP00000422554:C694W	C	-	3	2	ADAMTS12	33660154	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.525000	0.45598	0.950000	0.37743	0.655000	0.94253	TGC		0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		33	108	0	0	0	0.002445	0	33	108				
ADAMTS12	81792	broad.mit.edu	37	5	33630890	33630890	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33630890A>T	ENST00000504830.1	-	13	2352	c.2017T>A	c.(2017-2019)Tgt>Agt	p.C673S	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	673	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AATACCTTACATATGCCATTA	0.383										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2017-2019)TGT>AGT		ADAM metallopeptidase with thrombospondin type 1							98.0	99.0	98.0					5																	33630890		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33630890A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2017T>A	5.37:g.33630890A>T	ENSP00000422554:p.Cys673Ser	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.C673S	NM_030955	NP_112217	P58397	ATS12_HUMAN			13	2180	-			673			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2017T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838854	0.91117	.	.	ENSG00000151388	ENST00000504830	T	0.71934	-0.61	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88614	0.6484	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.91992	0.5604	10	0.87932	D	0	.	15.9765	0.80071	1.0:0.0:0.0:0.0	.	673	P58397	ATS12_HUMAN	S	673	ENSP00000422554:C673S	ENSP00000422554:C673S	C	-	1	0	ADAMTS12	33666647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.245000	0.95431	2.175000	0.68902	0.477000	0.44152	TGT		0.383	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		31	112	0	0	0	0.007291	0	31	112				
SLC45A2	51151	broad.mit.edu	37	5	33963842	33963842	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33963842G>T	ENST00000296589.4	-	3	988	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	SLC45A2_ENST00000382102.3_Missense_Mutation_p.P281Q|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.P222Q	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	281					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGCCAGCTCTGGATTTACGTA	0.408																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(841-843)CCA>CAA		membrane-associated transporter protein isoform							163.0	169.0	167.0					5																	33963842		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33963842G>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.842C>A	5.37:g.33963842G>T	ENSP00000296589:p.Pro281Gln					SLC45A2_uc003jie.2_Missense_Mutation_p.P281Q|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	p.P281Q	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			3	934	-			281			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.842C>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	8.103	0.776998	0.16120	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;T;D;D	0.92699	-3.09;2.22;-3.04;-3.09	5.83	4.05	0.47172	Major facilitator superfamily domain, general substrate transporter (1);	0.887861	0.09863	N	0.745972	T	0.81688	0.4875	N	0.12182	0.205	0.09310	N	0.999998	B;B	0.14012	0.009;0.001	B;B	0.14023	0.01;0.005	T	0.67118	-0.5751	10	0.14252	T	0.57	-25.8522	5.1176	0.14843	0.0772:0.1478:0.6212:0.1538	.	281;281	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	Q	281;222;281;106	ENSP00000296589:P281Q;ENSP00000341014:P222Q;ENSP00000371534:P281Q;ENSP00000424010:P106Q	ENSP00000296589:P281Q	P	-	2	0	SLC45A2	33999599	0.115000	0.22152	0.333000	0.25482	0.342000	0.28953	1.687000	0.37680	0.811000	0.34303	-0.217000	0.12591	CCA		0.408	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		64	303	1	0	5.44642e-36	0.00361	9.4048e-36	64	303				
SLC45A2	51151	broad.mit.edu	37	5	33963844	33963844	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33963844A>G	ENST00000296589.4	-	3	986	c.840T>C	c.(838-840)aaT>aaC	p.N280N	SLC45A2_ENST00000382102.3_Silent_p.N280N|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Silent_p.N221N	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	280					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCAGCTCTGGATTTACGTAAC	0.408																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(838-840)AAT>AAC		membrane-associated transporter protein isoform							163.0	170.0	168.0					5																	33963844		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33963844A>G	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.840T>C	5.37:g.33963844A>G						SLC45A2_uc003jie.2_Silent_p.N280N|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	p.N280N	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			3	932	-			280			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.840T>C	CCDS3901.1																																																																																				0.408	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		61	307	0	0	0	0.00361	0	61	307				
SLC45A2	51151	broad.mit.edu	37	5	33982417	33982417	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:33982417G>T	ENST00000296589.4	-	2	632	c.486C>A	c.(484-486)ccC>ccA	p.P162P	SLC45A2_ENST00000382102.3_Silent_p.P162P|SLC45A2_ENST00000509381.1_Silent_p.P162P|SLC45A2_ENST00000345083.5_Silent_p.P162P|SLC45A2_ENST00000342059.3_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	162					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AGGCTTTGATGGGCCCATCAA	0.483																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(484-486)CCC>CCA		membrane-associated transporter protein isoform							106.0	100.0	102.0					5																	33982417		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33982417G>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.486C>A	5.37:g.33982417G>T						SLC45A2_uc003jie.2_Silent_p.P162P|SLC45A2_uc003jif.3_Silent_p.P162P|SLC45A2_uc011coe.1_Silent_p.P162P	p.P162P	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			2	578	-			162			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.486C>A	CCDS3901.1																																																																																				0.483	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		25	71	1	0	4.72057e-08	0.003954	5.48983e-08	25	71				
AGXT2	64902	broad.mit.edu	37	5	35003936	35003936	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35003936C>T	ENST00000231420.6	-	13	1569	c.1369G>A	c.(1369-1371)Gta>Ata	p.V457I		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	457					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	ATCTGATTTACTTCTTCACGG	0.408											OREG0016558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003jjf.2		NA																	0				ovary(3)|skin(1)	4						c.(1369-1371)GTA>ATA		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						136.0	130.0	132.0					5																	35003936		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35003936C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1369G>A	5.37:g.35003936C>T	ENSP00000231420:p.Val457Ile		OREG0016558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	852	AGXT2_uc003jje.1_Missense_Mutation_p.V110I|AGXT2_uc011com.1_Missense_Mutation_p.V382I	p.V457I	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	13	1448	-	all_lung(31;4.52e-05)		457					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.1369G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361016	0.01245	.	.	ENSG00000113492	ENST00000231420	T	0.19669	2.13	5.58	1.19	0.21007	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.354718	0.33916	N	0.004435	T	0.12732	0.0309	L	0.31752	0.955	0.32541	N	0.533669	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.002	T	0.17137	-1.0379	10	0.24483	T	0.36	-13.3544	8.3664	0.32389	0.0:0.5634:0.0:0.4366	.	382;457	E9PDL7;Q9BYV1	.;AGT2_HUMAN	I	457	ENSP00000231420:V457I	ENSP00000231420:V457I	V	-	1	0	AGXT2	35039693	0.999000	0.42202	0.868000	0.34077	0.030000	0.12068	0.574000	0.23714	0.295000	0.22570	0.655000	0.94253	GTA		0.408	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		53	181	0	0	0	0.00361	0	53	181				
AGXT2	64902	broad.mit.edu	37	5	35014196	35014196	+	Missense_Mutation	SNP	G	G	T	rs373358835		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35014196G>T	ENST00000231420.6	-	10	1192	c.992C>A	c.(991-993)tCt>tAt	p.S331Y		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	331					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CCAGAAGTGAGAGCCCAACCT	0.512																																							uc003jjf.2		NA																	0				ovary(3)|skin(1)	4						c.(991-993)TCT>TAT		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						125.0	111.0	116.0					5																	35014196		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35014196G>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.992C>A	5.37:g.35014196G>T	ENSP00000231420:p.Ser331Tyr					AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.1_Intron	p.S331Y	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	10	1071	-	all_lung(31;4.52e-05)		331					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.992C>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271838	0.80469	.	.	ENSG00000113492	ENST00000231420	D	0.86297	-2.1	5.88	4.96	0.65561	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.082594	0.85682	D	0.000000	D	0.92519	0.7624	M	0.74546	2.27	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	D	0.92830	0.6279	10	0.87932	D	0	-23.3293	13.6847	0.62508	0.0:0.311:0.689:0.0	.	331	Q9BYV1	AGT2_HUMAN	Y	331	ENSP00000231420:S331Y	ENSP00000231420:S331Y	S	-	2	0	AGXT2	35049953	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.060000	0.71141	2.769000	0.95229	0.655000	0.94253	TCT		0.512	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		40	123	1	0	7.04047e-22	0.005524	1.07384e-21	40	123				
AGXT2	64902	broad.mit.edu	37	5	35039598	35039598	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35039598G>T	ENST00000231420.6	-	3	393	c.193C>A	c.(193-195)Cgt>Agt	p.R65S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	65					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TCCAGGACACGGTTGTAGCCA	0.473																																							uc003jjf.2		NA																	0				ovary(3)|skin(1)	4						c.(193-195)CGT>AGT		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						72.0	74.0	73.0					5																	35039598		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35039598G>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.193C>A	5.37:g.35039598G>T	ENSP00000231420:p.Arg65Ser					AGXT2_uc011com.1_Missense_Mutation_p.R65S|AGXT2_uc011con.1_5'UTR	p.R65S	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	3	272	-	all_lung(31;4.52e-05)		65					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.193C>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604765	0.66445	.	.	ENSG00000113492	ENST00000231420	T	0.81163	-1.46	5.44	4.54	0.55810	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.385756	0.31010	N	0.008433	T	0.79429	0.4444	M	0.61703	1.905	0.44155	D	0.996956	P;P	0.47409	0.68;0.895	B;B	0.43331	0.416;0.307	T	0.79429	-0.1807	10	0.33940	T	0.23	-11.9015	15.6022	0.76634	0.0:0.0:0.8619:0.1381	.	65;65	E9PDL7;Q9BYV1	.;AGT2_HUMAN	S	65	ENSP00000231420:R65S	ENSP00000231420:R65S	R	-	1	0	AGXT2	35075355	0.990000	0.36364	0.008000	0.14137	0.830000	0.47004	6.976000	0.76135	2.547000	0.85894	0.650000	0.86243	CGT		0.473	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		33	94	1	0	1.22384e-17	0.002836	1.73272e-17	33	94				
SPEF2	79925	broad.mit.edu	37	5	35641549	35641549	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35641549C>A	ENST00000356031.3	+	3	332	c.178C>A	c.(178-180)Ctt>Att	p.L60I	SPEF2_ENST00000509059.1_Missense_Mutation_p.L60I|SPEF2_ENST00000440995.2_Missense_Mutation_p.L60I|SPEF2_ENST00000282469.6_Missense_Mutation_p.L60I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	60	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTGCCAAACTTAATAATTT	0.373																																							uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(178-180)CTT>ATT		KPL2 protein isoform 1							74.0	79.0	78.0					5																	35641549		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35641549C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.178C>A	5.37:g.35641549C>A	ENSP00000348314:p.Leu60Ile					SPEF2_uc003jjn.1_Missense_Mutation_p.L60I|SPEF2_uc003jjq.3_Missense_Mutation_p.L60I	p.L60I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	289	+	all_lung(31;7.56e-05)		60			CH.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.178C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315799	0.81469	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.93	5.93	0.95920	Calponin homology domain (1);	0.076234	0.53938	D	0.000060	T	0.64713	0.2623	L	0.39397	1.21	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.957	D;D;P	0.87578	0.998;0.998;0.663	T	0.59156	-0.7507	10	0.33940	T	0.23	.	16.5777	0.84705	0.1308:0.8692:0.0:0.0	.	60;60;60	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	I	60	ENSP00000282469:L60I;ENSP00000348314:L60I;ENSP00000421593:L60I;ENSP00000426259:L60I;ENSP00000412125:L60I	ENSP00000282469:L60I	L	+	1	0	SPEF2	35677306	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.073000	0.50057	2.814000	0.96858	0.655000	0.94253	CTT		0.373	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		25	91	1	0	7.33532e-06	0.003954	8.06969e-06	25	91				
IL7R	3575	broad.mit.edu	37	5	35876488	35876488	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35876488C>T	ENST00000303115.3	+	8	1409	c.1280C>T	c.(1279-1281)aCa>aTa	p.T427I	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	427					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGAATCCTGACATTGAACCCA	0.502			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																uc003jjs.2		NA		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					0				ovary(3)|breast(1)|skin(1)	5						c.(1279-1281)ACA>ATA		interleukin 7 receptor precursor							70.0	63.0	65.0					5																	35876488		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876488C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1280C>T	5.37:g.35876488C>T	ENSP00000306157:p.Thr427Ile					IL7R_uc011cop.1_RNA	p.T427I	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1369	+	all_lung(31;0.00015)		427			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1280C>T	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	9.131	1.011338	0.19277	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.33865	1.87;1.39	5.43	2.49	0.30216	.	1.579150	0.03068	N	0.156761	T	0.28167	0.0695	L	0.35414	1.06	0.09310	N	0.999999	B	0.14805	0.011	B	0.08055	0.003	T	0.15492	-1.0435	10	0.34782	T	0.22	-0.8393	3.7674	0.08627	0.1932:0.6045:0.0:0.2023	.	427	P16871	IL7RA_HUMAN	I	427;193	ENSP00000306157:T427I;ENSP00000420923:T193I	ENSP00000306157:T427I	T	+	2	0	IL7R	35912245	0.003000	0.15002	0.847000	0.33407	0.764000	0.43329	0.998000	0.29744	0.650000	0.30769	0.655000	0.94253	ACA		0.502	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			31	80	0	0	0	0.002096	0	31	80				
CAPSL	133690	broad.mit.edu	37	5	35921107	35921107	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35921107G>C	ENST00000397367.2	-	2	242	c.116C>G	c.(115-117)gCt>gGt	p.A39G	CAPSL_ENST00000514524.1_Missense_Mutation_p.A39G|CAPSL_ENST00000397366.1_Missense_Mutation_p.A39G	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTTGATCCCAGCAGAGCCCCT	0.597																																							uc003jjt.1		NA																	0				skin(1)	1						c.(115-117)GCT>GGT		calcyphosine-like							90.0	80.0	83.0					5																	35921107		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35921107G>C	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.116C>G	5.37:g.35921107G>C	ENSP00000380524:p.Ala39Gly					CAPSL_uc003jju.1_Missense_Mutation_p.A39G	p.A39G	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		2	211	-	all_lung(31;0.000268)		39			EF-hand 1.			Missense_Mutation	SNP	ENST00000397367.2	37	c.116C>G	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587345	0.66105	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;T	0.83673	-1.64;-1.64;-1.75;0.55	4.8	4.8	0.61643	.	0.055405	0.64402	D	0.000001	D	0.83949	0.5365	M	0.77313	2.365	0.58432	D	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.82143	-0.0603	10	0.54805	T	0.06	-14.8659	17.813	0.88622	0.0:0.0:1.0:0.0	.	39	Q8WWF8	CAPSL_HUMAN	G	39	ENSP00000380524:A39G;ENSP00000380523:A39G;ENSP00000424806:A39G;ENSP00000421018:A39G	ENSP00000380523:A39G	A	-	2	0	CAPSL	35956864	1.000000	0.71417	0.959000	0.39883	0.951000	0.60555	8.620000	0.90943	2.367000	0.80283	0.563000	0.77884	GCT		0.597	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		49	118	0	0	0	0.00361	0	49	118				
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:35968221C>A	ENST00000274278.3	-	3	568	c.211G>T	c.(211-213)Gaa>Taa	p.E71*	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.E37*|UGT3A1_ENST00000333811.4_Nonsense_Mutation_p.E17*|UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.E71*	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	71						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGATTTTTCCTCCTCTTTA	0.299																																							uc003jjv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(211-213)GAA>TAA		UDP glycosyltransferase 3 family, polypeptide A1							75.0	76.0	76.0					5																	35968221		2203	4296	6499	SO:0001587	stop_gained	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35968221C>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.211G>T	5.37:g.35968221C>A	ENSP00000274278:p.Glu71*					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Nonsense_Mutation_p.E71*|UGT3A1_uc011cor.1_Nonsense_Mutation_p.E37*|UGT3A1_uc003jjy.1_Nonsense_Mutation_p.E17*	p.E71*	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	368	-	all_lung(31;0.000197)		71			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Nonsense_Mutation	SNP	ENST00000274278.3	37	c.211G>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914690	0.92178	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	.	.	.	2.7	-2.56	0.06268	.	4.710270	0.01148	U	0.006342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	0.2255	0.00173	0.2095:0.2822:0.2074:0.301	.	.	.	.	X	71;71;37;17	.	ENSP00000274278:E71X	E	-	1	0	UGT3A1	36003978	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.193000	0.03049	-0.357000	0.08175	0.455000	0.32223	GAA		0.299	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		25	18	1	0	3.6726e-16	0.003954	5.03746e-16	25	18				
UGT3A2	167127	broad.mit.edu	37	5	36035965	36035965	+	Silent	SNP	C	C	A	rs138782726	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:36035965C>A	ENST00000282507.3	-	7	1508	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	UGT3A2_ENST00000545528.1_Silent_p.T167T|UGT3A2_ENST00000513300.1_Silent_p.T435T	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGAGGTGCGTCGCGCCCC	0.622																																							uc003jjz.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1405-1407)ACG>ACT		UDP glycosyltransferase 3 family, polypeptide A2							56.0	49.0	52.0					5																	36035965		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035965C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1407G>T	5.37:g.36035965C>A						UGT3A2_uc011cos.1_Silent_p.T435T|UGT3A2_uc011cot.1_Silent_p.T167T	p.T469T	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1500	-	all_lung(31;0.000179)		469			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.1407G>T	CCDS3914.1																																																																																				0.622	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		34	50	1	0	9.04072e-19	0.003271	1.30483e-18	34	50				
UGT3A2	167127	broad.mit.edu	37	5	36052023	36052023	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:36052023C>A	ENST00000282507.3	-	3	361	c.260G>T	c.(259-261)aGa>aTa	p.R87I	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R53I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	87					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTAAATTCTCTTTGATGATC	0.284																																							uc003jjz.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(259-261)AGA>ATA		UDP glycosyltransferase 3 family, polypeptide A2							50.0	53.0	52.0					5																	36052023		2202	4298	6500	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36052023C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.260G>T	5.37:g.36052023C>A	ENSP00000282507:p.Arg87Ile					UGT3A2_uc011cos.1_Missense_Mutation_p.R53I|UGT3A2_uc011cot.1_5'UTR	p.R87I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	353	-	all_lung(31;0.000179)		87			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.260G>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332738	0.24167	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.63096	-0.02;-0.02;1.46	3.33	-3.32	0.04973	.	0.698581	0.11784	U	0.529853	T	0.40791	0.1131	N	0.12182	0.205	0.09310	N	0.999999	P;P	0.43938	0.769;0.822	B;B	0.41691	0.215;0.364	T	0.40831	-0.9542	10	0.59425	D	0.04	.	9.8601	0.41109	0.0:0.5358:0.0:0.4642	.	53;87	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	87;53;87	ENSP00000282507:R87I;ENSP00000427404:R53I;ENSP00000420865:R87I	ENSP00000282507:R87I	R	-	2	0	UGT3A2	36087780	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.124000	0.10595	-0.731000	0.04862	-0.793000	0.03317	AGA		0.284	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		8	73	1	0	0.000157383	0.00308	0.000167241	8	73				
FYB	2533	broad.mit.edu	37	5	39202061	39202061	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:39202061C>A	ENST00000351578.6	-	2	1192	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	FYB_ENST00000505428.1_Missense_Mutation_p.K334N|FYB_ENST00000515010.1_Missense_Mutation_p.K334N|FYB_ENST00000512982.1_Missense_Mutation_p.K334N|FYB_ENST00000540520.1_Missense_Mutation_p.K344N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	334					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCTTGTCTCCCTTTTCCTTTT	0.552																																							uc003jls.2		NA																	0				ovary(2)	2						c.(1000-1002)AAG>AAT		FYN binding protein (FYB-120/130) isoform 2							123.0	124.0	124.0					5																	39202061		1904	4110	6014	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202061C>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1002G>T	5.37:g.39202061C>A	ENSP00000316460:p.Lys334Asn					FYB_uc003jlt.2_Missense_Mutation_p.K334N|FYB_uc003jlu.2_Missense_Mutation_p.K334N|FYB_uc011cpl.1_Missense_Mutation_p.K344N	p.K334N	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	1069	-	all_lung(31;0.000343)		334					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1002G>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782093	0.49891	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.23754	1.89;1.89;1.9;1.9;1.9	5.45	3.65	0.41850	.	0.644482	0.16352	N	0.218192	T	0.27832	0.0685	M	0.63428	1.95	0.24137	N	0.995749	D;B	0.53619	0.961;0.421	P;B	0.46629	0.522;0.203	T	0.09818	-1.0657	10	0.27785	T	0.31	-7.2054	6.8546	0.24034	0.0:0.653:0.1303:0.2167	.	344;334	B4DLN2;O15117	.;FYB_HUMAN	N	334;334;334;334;344;334	ENSP00000316460:K334N;ENSP00000426346:K334N;ENSP00000425845:K334N;ENSP00000427114:K334N;ENSP00000442840:K344N	ENSP00000316460:K334N	K	-	3	2	FYB	39237818	0.018000	0.18449	0.989000	0.46669	0.983000	0.72400	-0.091000	0.11146	1.295000	0.44724	0.655000	0.94253	AAG		0.552	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		28	109	1	0	1.88708e-17	0.008361	2.65814e-17	28	109				
TTC33	23548	broad.mit.edu	37	5	40728524	40728524	+	Missense_Mutation	SNP	C	C	A	rs139469375		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:40728524C>A	ENST00000337702.4	-	4	510	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	120										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTTGCTGGACGGCCATTTCT	0.403																																							uc003jma.2		NA																	0				ovary(1)	1						c.(358-360)GTC>TTC		tetratricopeptide repeat domain 33							84.0	83.0	83.0					5																	40728524		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40728524C>A	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.358G>T	5.37:g.40728524C>A	ENSP00000338533:p.Val120Phe					TTC33_uc011cpm.1_Missense_Mutation_p.V12F|TTC33_uc010ivg.2_Intron	p.V120F	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN			4	506	-			120			TPR 2.		B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.358G>T	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418132	0.83449	.	.	ENSG00000113638	ENST00000337702	T	0.60171	0.21	5.96	5.96	0.96718	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.359245	0.31601	N	0.007364	T	0.78622	0.4312	M	0.78637	2.42	0.50313	D	0.999869	D	0.89917	1.0	D	0.80764	0.994	T	0.79405	-0.1817	10	0.87932	D	0	-13.3245	20.422	0.99049	0.0:1.0:0.0:0.0	.	120	Q6PID6	TTC33_HUMAN	F	120	ENSP00000338533:V120F	ENSP00000338533:V120F	V	-	1	0	TTC33	40764281	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.813000	0.48002	2.832000	0.97577	0.655000	0.94253	GTC		0.403	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		14	65	1	0	0.00185496	0.001855	0.00192979	14	65				
C7	730	broad.mit.edu	37	5	40964925	40964925	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:40964925C>G	ENST00000313164.9	+	14	2191	c.1832C>G	c.(1831-1833)gCc>gGc	p.A611G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	611	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AACCCAGTGGCCAGATGTGGA	0.398																																							uc003jmh.2		NA																	0					0						c.(1831-1833)GCC>GGC		complement component 7 precursor							158.0	158.0	158.0					5																	40964925		1977	4154	6131	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40964925C>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1832C>G	5.37:g.40964925C>G	ENSP00000322061:p.Ala611Gly					C7_uc011cpn.1_RNA	p.A611G	NM_000587	NP_000578	P10643	CO7_HUMAN			14	1946	+		Ovarian(839;0.0112)	611			Sushi 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1832C>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054802	0.93793	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.66638	-0.22	6.04	6.04	0.98038	Complement control module (2);Sushi/SCR/CCP (3);	0.115685	0.56097	D	0.000021	D	0.85053	0.5609	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85869	0.1415	10	0.87932	D	0	-17.242	20.5948	0.99439	0.0:1.0:0.0:0.0	.	611	P10643	CO7_HUMAN	G	611;451	ENSP00000322061:A611G	ENSP00000322061:A611G	A	+	2	0	C7	41000682	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.511000	0.60462	2.873000	0.98535	0.563000	0.77884	GCC		0.398	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			86	166	0	0	0	0.00361	0	86	166				
C7	730	broad.mit.edu	37	5	40981659	40981659	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:40981659C>G	ENST00000313164.9	+	18	2875	c.2516C>G	c.(2515-2517)gCt>gGt	p.A839G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	839	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AGGCCTTGTGCTGCGGAAACC	0.587																																							uc003jmh.2		NA																	0					0						c.(2515-2517)GCT>GGT		complement component 7 precursor							48.0	49.0	49.0					5																	40981659		2047	4214	6261	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981659C>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2516C>G	5.37:g.40981659C>G	ENSP00000322061:p.Ala839Gly						p.A839G	NM_000587	NP_000578	P10643	CO7_HUMAN			18	2630	+		Ovarian(839;0.0112)	839			Complement control factor I module 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2516C>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	2.439	-0.328956	0.05314	.	.	ENSG00000112936	ENST00000313164	T	0.64618	-0.11	5.83	2.59	0.31030	Factor I / membrane attack complex (1);	0.888404	0.09943	N	0.735732	T	0.50360	0.1611	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.22706	T	0.39	-6.8781	10.4425	0.44474	0.5305:0.3688:0.1007:0.0	.	839	P10643	CO7_HUMAN	G	839	ENSP00000322061:A839G	ENSP00000322061:A839G	A	+	2	0	C7	41017416	0.001000	0.12720	0.247000	0.24249	0.028000	0.11728	0.138000	0.16016	0.605000	0.29947	0.563000	0.77884	GCT		0.587	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	41	0	0	0	0.009096	0	4	41				
MROH2B	133558	broad.mit.edu	37	5	41005676	41005676	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41005676G>T	ENST00000399564.4	-	35	4271	c.3821C>A	c.(3820-3822)tCc>tAc	p.S1274Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.S829Y	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1274																	GTTCTCCGAGGAGGAGGTAAG	0.512																																							uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(3820-3822)TCC>TAC		HEAT repeat family member 7B2							72.0	75.0	74.0					5																	41005676		2012	4200	6212	SO:0001583	missense	133558						binding	g.chr5:41005676G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3821C>A	5.37:g.41005676G>T	ENSP00000382476:p.Ser1274Tyr					HEATR7B2_uc003jmi.3_Missense_Mutation_p.S829Y	p.S1274Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			35	4311	-			1274			HEAT 14.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3821C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123915	0.77436	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.67171	-0.25;-0.25	6.15	6.15	0.99193	Armadillo-type fold (1);	0.198446	0.36482	N	0.002568	T	0.69878	0.3160	L	0.44542	1.39	0.36012	D	0.838115	D	0.61080	0.989	P	0.52066	0.689	T	0.76022	-0.3111	10	0.59425	D	0.04	.	16.3388	0.83075	0.0:0.0:1.0:0.0	.	1274	Q7Z745	HTRB2_HUMAN	Y	829;979;1274	ENSP00000441504:S829Y;ENSP00000382476:S1274Y	ENSP00000296803:S979Y	S	-	2	0	HEATR7B2	41041433	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	4.724000	0.61972	2.932000	0.99384	0.643000	0.83706	TCC		0.512	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		9	14	1	0	0.000673444	0.008291	0.000705548	9	14				
MROH2B	133558	broad.mit.edu	37	5	41045901	41045901	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41045901T>A	ENST00000399564.4	-	18	2233	c.1783A>T	c.(1783-1785)Act>Tct	p.T595S	MROH2B_ENST00000506092.2_Missense_Mutation_p.T150S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	595																	AAATCCTGAGTCAGCTGAATG	0.428																																							uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(1783-1785)ACT>TCT		HEAT repeat family member 7B2							229.0	218.0	222.0					5																	41045901		2000	4178	6178	SO:0001583	missense	133558						binding	g.chr5:41045901T>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1783A>T	5.37:g.41045901T>A	ENSP00000382476:p.Thr595Ser					HEATR7B2_uc003jmi.3_Missense_Mutation_p.T150S	p.T595S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			18	2273	-			595			HEAT 7.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1783A>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	0.464	-0.887691	0.02511	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68025	3.41;-0.3	5.87	5.87	0.94306	Armadillo-type fold (1);	0.418289	0.20552	N	0.090095	T	0.30039	0.0752	N	0.00595	-1.35	0.26274	N	0.97838	B	0.02656	0.0	B	0.04013	0.001	T	0.11227	-1.0596	10	0.02654	T	1	.	12.6549	0.56782	0.0:0.0:0.0:1.0	.	595	Q7Z745	HTRB2_HUMAN	S	150;300;595	ENSP00000441504:T150S;ENSP00000382476:T595S	ENSP00000296803:T300S	T	-	1	0	HEATR7B2	41081658	1.000000	0.71417	0.998000	0.56505	0.036000	0.12997	2.401000	0.44513	2.239000	0.73571	0.528000	0.53228	ACT		0.428	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		181	110	0	0	0	0.00361	0	181	110				
C6	729	broad.mit.edu	37	5	41154084	41154084	+	Silent	SNP	C	C	T	rs375320778		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41154084C>T	ENST00000263413.3	-	15	2382	c.2118G>A	c.(2116-2118)aaG>aaA	p.K706K	C6_ENST00000337836.5_Silent_p.K706K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	706	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCACAACTGGCTTGATGCACT	0.413																																							uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2116-2118)AAG>AAA		complement component 6 precursor		C	,	0,4406		0,0,2203	106.0	96.0	99.0		2118,2118	2.8	0.9	5		99	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	C6	NM_000065.2,NM_001115131.1	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	706/935,706/935	41154084	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41154084C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2118G>A	5.37:g.41154084C>T						C6_uc003jml.1_Silent_p.K706K	p.K706K	NM_000065	NP_000056	P13671	CO6_HUMAN			15	2328	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	706			C5b-binding domain.|Sushi 2.			Silent	SNP	ENST00000263413.3	37	c.2118G>A	CCDS3936.1																																																																																				0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			14	76	0	0	0	0.00245	0	14	76				
C6	729	broad.mit.edu	37	5	41160350	41160350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:41160350G>T	ENST00000263413.3	-	11	1842	c.1578C>A	c.(1576-1578)tgC>tgA	p.C526*	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Nonsense_Mutation_p.C526*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	526	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CATTATTAGGGCATGGAGCAC	0.493																																							uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1576-1578)TGC>TGA		complement component 6 precursor							216.0	192.0	200.0					5																	41160350		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160350G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1578C>A	5.37:g.41160350G>T	ENSP00000263413:p.Cys526*					C6_uc003jml.1_Nonsense_Mutation_p.C526*	p.C526*	NM_000065	NP_000056	P13671	CO6_HUMAN			11	1788	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	526			EGF-like.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1578C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	39	7.433796	0.98282	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	6.06	-0.612	0.11597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1092	11.6547	0.51311	0.6298:0.0:0.3702:0.0	.	.	.	.	X	526	.	ENSP00000263413:C526X	C	-	3	2	C6	41196107	0.994000	0.37717	0.997000	0.53966	0.954000	0.61252	0.289000	0.18957	0.037000	0.15575	0.655000	0.94253	TGC		0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			78	184	1	0	7.62465e-47	0.00361	1.37557e-46	78	184				
NIM1K	167359	broad.mit.edu	37	5	43245913	43245913	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:43245913G>T	ENST00000512796.1	+	2	1535	c.36G>T	c.(34-36)gtG>gtT	p.V12V	NIM1_ENST00000326035.2_Silent_p.V12V			Q8IY84	NIM1_HUMAN		12					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										GTGGCCTGGTGAACCCCCACT	0.607																																							uc003jno.2		NA																	0				lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						c.(34-36)GTG>GTT		serine/threonine-protein kinase NIM1							129.0	123.0	125.0					5																	43245913		2203	4300	6503	SO:0001819	synonymous_variant	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43245913G>T																												ENST00000512796.1:c.36G>T	5.37:g.43245913G>T							p.V12V	NM_153361	NP_699192	Q8IY84	NIM1_HUMAN			2	917	+			12					B3KVM1	Silent	SNP	ENST00000512796.1	37	c.36G>T	CCDS3943.1																																																																																				0.607	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			86	227	1	0	5.56898e-48	0.00361	1.00846e-47	86	227				
FGF10	2255	broad.mit.edu	37	5	44388620	44388620	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:44388620G>A	ENST00000264664.4	-	1	279	c.165C>T	c.(163-165)tcC>tcT	p.S55S	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	55	Poly-Ser.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGGAGAAGGAGGAGGAAGAAG	0.537																																							uc003jog.1		NA																	0				lung(3)	3						c.(163-165)TCC>TCT		fibroblast growth factor 10 precursor							56.0	56.0	56.0					5																	44388620		2203	4300	6503	SO:0001819	synonymous_variant	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388620G>A		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.165C>T	5.37:g.44388620G>A							p.S55S	NM_004465	NP_004456	O15520	FGF10_HUMAN			1	165	-	Lung NSC(6;1.12e-06)		55			Poly-Ser.		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	c.165C>T	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		57	32	0	0	0	0.00361	0	57	32				
ITGA1	3672	broad.mit.edu	37	5	52216286	52216286	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:52216286C>T	ENST00000282588.6	+	17	2738	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	760					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTAAGCACTCCTTCTACATGT	0.348																																							uc003jou.2		NA																	0				ovary(2)|lung(1)	3						c.(2278-2280)TCC>TCT		integrin, alpha 1 precursor							117.0	108.0	111.0					5																	52216286		2203	4300	6503	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52216286C>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2280C>T	5.37:g.52216286C>T						ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.S291S	p.S760S	NM_181501	NP_852478	P56199	ITA1_HUMAN			17	2332	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	760			Extracellular (Potential).		B2RNU0	Silent	SNP	ENST00000282588.6	37	c.2280C>T	CCDS3955.1																																																																																				0.348	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		15	44	0	0	0	0.00245	0	15	44				
HSPB3	8988	broad.mit.edu	37	5	53751941	53751941	+	Missense_Mutation	SNP	G	G	T	rs369890201		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:53751941G>T	ENST00000302005.1	+	1	497	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	108					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GGATGAGCACGGTTTTATCTC	0.473																																							uc003jph.1		NA																	0					0						c.(322-324)GGT>TGT		heat shock 27kDa protein 3							116.0	110.0	112.0					5																	53751941		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751941G>T	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.322G>T	5.37:g.53751941G>T	ENSP00000303394:p.Gly108Cys						p.G108C	NM_006308	NP_006299	Q12988	HSPB3_HUMAN			1	497	+		Lung NSC(810;0.00104)	108						Missense_Mutation	SNP	ENST00000302005.1	37	c.322G>T	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082499	0.55861	.	.	ENSG00000169271	ENST00000302005	D	0.92099	-2.97	5.81	5.81	0.92471	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97423	1.0010	10	0.87932	D	0	-19.1502	20.0804	0.97772	0.0:0.0:1.0:0.0	.	108	Q12988	HSPB3_HUMAN	C	108	ENSP00000303394:G108C	ENSP00000303394:G108C	G	+	1	0	HSPB3	53787698	1.000000	0.71417	0.284000	0.24805	0.058000	0.15608	7.697000	0.84279	2.738000	0.93877	0.655000	0.94253	GGT		0.473	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			31	175	1	0	1.99505e-19	0.002445	2.90544e-19	31	175				
SNX18	112574	broad.mit.edu	37	5	53839209	53839209	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:53839209C>A	ENST00000381410.4	+	2	2012	c.1822C>A	c.(1822-1824)Caa>Aaa	p.Q608K	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	461	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AATATTTTTCCAAAAAGTTAC	0.343																																							uc003jpi.3		NA																	0					0						c.(1822-1824)CAA>AAA		sorting nexin 18 isoform a							57.0	56.0	57.0					5																	53839209		1822	4080	5902	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53839209C>A	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1822C>A	5.37:g.53839209C>A	ENSP00000370817:p.Gln608Lys					SNX18_uc011cqg.1_3'UTR	p.Q608K	NM_001102575	NP_001096045	Q96RF0	SNX18_HUMAN			2	2012	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	c.1822C>A	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246120	0.59103	.	.	ENSG00000178996	ENST00000381410	T	0.14766	2.48	5.71	5.71	0.89125	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.80722	D	1	P	0.36010	0.532	B	0.34824	0.19	T	0.01356	-1.1376	8	0.48119	T	0.1	.	18.0501	0.89345	0.0:1.0:0.0:0.0	.	608	Q96RF0-2	.	K	608	ENSP00000370817:Q608K	ENSP00000370817:Q608K	Q	+	1	0	SNX18	53874966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.699000	0.68310	2.684000	0.91462	0.650000	0.86243	CAA		0.343	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2			14	98	1	0	7.93312e-07	0.00245	8.90979e-07	14	98				
HTR1A	3350	broad.mit.edu	37	5	63257032	63257032	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:63257032A>C	ENST00000323865.3	-	1	748	c.515T>G	c.(514-516)aTg>aGg	p.M172R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	172				M -> I (in Ref. 1; AAA36440/CAA31908). {ECO:0000305}.	adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCAGCCCAGCATGGGCGGGAT	0.597																																							uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(514-516)ATG>AGG		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						96.0	113.0	107.0					5																	63257032		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257032A>C	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.515T>G	5.37:g.63257032A>C	ENSP00000316244:p.Met172Arg						p.M172R	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	515	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	172	M -> I (in Ref. 1; AAA36440/CAA31908).		Helical; Name=4; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.515T>G	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.877518	0.72294	.	.	ENSG00000178394	ENST00000323865	T	0.73047	-0.71	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.041576	0.85682	D	0.000000	D	0.82660	0.5085	M	0.77313	2.365	0.80722	D	1	D	0.69078	0.997	P	0.62089	0.898	D	0.85080	0.0945	10	0.72032	D	0.01	.	15.1521	0.72709	1.0:0.0:0.0:0.0	.	172	P08908	5HT1A_HUMAN	R	172	ENSP00000316244:M172R	ENSP00000316244:M172R	M	-	2	0	HTR1A	63292788	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.252000	0.95491	2.175000	0.68902	0.533000	0.62120	ATG		0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		101	31	0	0	0	0.00361	0	101	31				
PDE8B	8622	broad.mit.edu	37	5	76633113	76633113	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:76633113G>C	ENST00000264917.5	+	6	815	c.770G>C	c.(769-771)gGg>gCg	p.G257A	PDE8B_ENST00000340978.3_Missense_Mutation_p.G257A|PDE8B_ENST00000333194.4_Missense_Mutation_p.G257A|PDE8B_ENST00000342343.4_Missense_Mutation_p.G237A|PDE8B_ENST00000346042.3_Missense_Mutation_p.G257A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	257					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ATAGAACATGGGGAAGTTCGC	0.333																																							uc003kfa.2		NA																	0					0						c.(769-771)GGG>GCG		phosphodiesterase 8B isoform 1							63.0	62.0	63.0					5																	76633113		2203	4299	6502	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76633113G>C	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.770G>C	5.37:g.76633113G>C	ENSP00000264917:p.Gly257Ala					PDE8B_uc003kfb.2_Missense_Mutation_p.G237A|PDE8B_uc003kfc.2_Missense_Mutation_p.G257A|PDE8B_uc003kfd.2_Missense_Mutation_p.G257A|PDE8B_uc003kfe.2_Missense_Mutation_p.G257A	p.G257A	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	6	815	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	257					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.770G>C	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412669	0.83340	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	T;T;T;T;T;T	0.76709	-0.84;-0.84;-0.49;-0.49;-0.4;-1.04	5.95	5.95	0.96441	.	0.045633	0.85682	D	0.000000	D	0.89853	0.6835	M	0.86178	2.8	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	0.97110	1.0;0.996;0.999;0.992;0.983	D	0.90493	0.4468	10	0.87932	D	0	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	257;257;257;237;257	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	A	257;257;257;237;257;19	ENSP00000345446:G257A;ENSP00000330428:G257A;ENSP00000264917:G257A;ENSP00000345646:G237A;ENSP00000331336:G257A;ENSP00000422861:G19A	ENSP00000264917:G257A	G	+	2	0	PDE8B	76668869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.795000	0.85887	2.824000	0.97209	0.655000	0.94253	GGG		0.333	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		11	0	0	0	0	0.000978	0	11	0				
OTP	23440	broad.mit.edu	37	5	76932818	76932818	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:76932818G>T	ENST00000306422.3	-	2	1413	c.275C>A	c.(274-276)cCc>cAc	p.P92H	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	92					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGCTTGGCTGGGGTTCGGGCC	0.697																																							uc003kfg.2		NA																	0				pancreas(1)	1						c.(274-276)CCC>CAC		orthopedia homeobox							49.0	57.0	55.0					5																	76932818		2203	4300	6503	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932818G>T		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.275C>A	5.37:g.76932818G>T	ENSP00000302814:p.Pro92His						p.P92H	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	423	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	92						Missense_Mutation	SNP	ENST00000306422.3	37	c.275C>A	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992462	0.54041	.	.	ENSG00000171540	ENST00000306422	D	0.95756	-3.8	5.42	4.55	0.56014	Homeodomain-related (1);Homeodomain-like (1);	0.862235	0.10132	N	0.711943	D	0.90277	0.6959	N	0.14661	0.345	0.42393	D	0.992535	P	0.36438	0.553	B	0.33042	0.157	D	0.86031	0.1513	10	0.46703	T	0.11	.	13.4355	0.61082	0.0768:0.0:0.9232:0.0	.	92	Q5XKR4	OTP_HUMAN	H	92	ENSP00000302814:P92H	ENSP00000302814:P92H	P	-	2	0	OTP	76968574	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.929000	0.56514	1.431000	0.47355	-0.137000	0.14449	CCC		0.697	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			69	25	1	0	8.3131e-28	0.00361	1.36135e-27	69	25				
CMYA5	202333	broad.mit.edu	37	5	79027442	79027442	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:79027442G>T	ENST00000446378.2	+	2	2885	c.2854G>T	c.(2854-2856)Gtg>Ttg	p.V952L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	952					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTGCATTTGTGTCAGAATT	0.398																																							uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(2854-2856)GTG>TTG		cardiomyopathy associated 5							107.0	101.0	103.0					5																	79027442		1873	4121	5994	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79027442G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2854G>T	5.37:g.79027442G>T	ENSP00000394770:p.Val952Leu						p.V952L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2926	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	952					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2854G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632171	0.46944	.	.	ENSG00000164309	ENST00000446378	T	0.45668	0.89	5.87	4.07	0.47477	.	0.981799	0.08305	N	0.966345	T	0.49150	0.1540	M	0.70275	2.135	0.20403	N	0.9999	P	0.52170	0.951	P	0.48552	0.581	T	0.37709	-0.9694	10	0.46703	T	0.11	.	6.604	0.22716	0.2791:0.0:0.7209:0.0	.	952	Q8N3K9	CMYA5_HUMAN	L	952	ENSP00000394770:V952L	ENSP00000394770:V952L	V	+	1	0	CMYA5	79063198	0.977000	0.34250	0.876000	0.34364	0.970000	0.65996	3.001000	0.49488	1.474000	0.48178	0.655000	0.94253	GTG		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		40	11	1	0	3.76604e-16	0.002522	5.16195e-16	40	11				
ACOT12	134526	broad.mit.edu	37	5	80641822	80641822	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:80641822G>T	ENST00000307624.3	-	7	683	c.655C>A	c.(655-657)Cgc>Agc	p.R219S	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	219	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAACACAGGCGGCTGGGGAGA	0.443																																							uc003khl.3		NA																	0				ovary(1)|kidney(1)	2						c.(655-657)CGC>AGC		acyl-CoA thioesterase 12							54.0	52.0	53.0					5																	80641822		2203	4300	6503	SO:0001630	splice_region_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80641822G>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.654-1C>A	5.37:g.80641822G>T						RNU5E_uc011cto.1_Intron	p.R219S	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	7	710	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	219			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.655C>A	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311647	0.60414	.	.	ENSG00000172497	ENST00000307624	T	0.20738	2.05	5.95	5.08	0.68730	Thioesterase superfamily (1);	0.172005	0.52532	D	0.000080	T	0.51517	0.1679	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.59773	-0.7391	10	0.51188	T	0.08	-0.9503	14.187	0.65612	0.0729:0.0:0.9271:0.0	.	219	Q8WYK0	ACO12_HUMAN	S	219	ENSP00000303246:R219S	ENSP00000303246:R219S	R	-	1	0	ACOT12	80677578	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	7.389000	0.79806	1.525000	0.49052	0.491000	0.48974	CGC		0.443	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	Missense_Mutation	23	6	1	0	7.4402e-23	0.003954	1.14383e-22	23	6				
VCAN	1462	broad.mit.edu	37	5	82836030	82836030	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:82836030C>A	ENST00000265077.3	+	8	7773	c.7208C>A	c.(7207-7209)gCt>gAt	p.A2403D	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.A1416D|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2403	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GATTTTCTGGCTAGAGCTTAT	0.383																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(7207-7209)GCT>GAT		versican isoform 1 precursor							72.0	71.0	72.0					5																	82836030		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836030C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7208C>A	5.37:g.82836030C>A	ENSP00000265077:p.Ala2403Asp					VCAN_uc003kij.3_Missense_Mutation_p.A1416D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A1067D	p.A2403D	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7564	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2403			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7208C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	9.699	1.154041	0.21371	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.36520	1.25;1.25	6.08	2.32	0.28847	.	1.184570	0.05855	N	0.622034	T	0.33614	0.0869	L	0.50333	1.59	0.09310	N	1	B;B	0.15473	0.004;0.013	B;B	0.12156	0.006;0.007	T	0.33137	-0.9880	10	0.66056	D	0.02	.	5.3123	0.15837	0.3677:0.4469:0.1188:0.0665	.	1416;2403	P13611-2;P13611	.;CSPG2_HUMAN	D	2403;1416	ENSP00000265077:A2403D;ENSP00000340062:A1416D	ENSP00000265077:A2403D	A	+	2	0	VCAN	82871786	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.309000	0.08145	0.149000	0.19098	-0.868000	0.02995	GCT		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		21	5	1	0	3.10358e-05	0.002299	3.37399e-05	21	5				
VCAN	1462	broad.mit.edu	37	5	82837494	82837494	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:82837494C>G	ENST00000265077.3	+	8	9237	c.8672C>G	c.(8671-8673)tCt>tGt	p.S2891C	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.S1904C|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2891	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAGCCTCCCTCTTTATCTCCT	0.383																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8671-8673)TCT>TGT		versican isoform 1 precursor							75.0	80.0	78.0					5																	82837494		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837494C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8672C>G	5.37:g.82837494C>G	ENSP00000265077:p.Ser2891Cys					VCAN_uc003kij.3_Missense_Mutation_p.S1904C|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1555C	p.S2891C	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9028	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2891			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8672C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611129	0.46631	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.86030	-2.04;-2.06	6.03	1.81	0.25067	.	0.637715	0.15587	N	0.254564	D	0.83825	0.5338	L	0.59436	1.845	0.09310	N	1	D;D	0.56287	0.975;0.957	P;P	0.50378	0.639;0.533	T	0.74352	-0.3693	10	0.72032	D	0.01	.	5.5961	0.17327	0.0:0.4387:0.1378:0.4235	.	1904;2891	P13611-2;P13611	.;CSPG2_HUMAN	C	2891;1904	ENSP00000265077:S2891C;ENSP00000340062:S1904C	ENSP00000265077:S2891C	S	+	2	0	VCAN	82873250	0.012000	0.17670	0.001000	0.08648	0.009000	0.06853	0.351000	0.20096	0.450000	0.26774	0.655000	0.94253	TCT		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		44	10	0	0	0	0.003214	0	44	10				
GPR98	84059	broad.mit.edu	37	5	89989938	89989938	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:89989938C>T	ENST00000405460.2	+	33	7461	c.7365C>T	c.(7363-7365)ttC>ttT	p.F2455F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2455	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCATTTTTCAGTGCTTCTG	0.493																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7363-7365)TTC>TTT		G protein-coupled receptor 98 precursor							74.0	72.0	72.0					5																	89989938		1910	4125	6035	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989938C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7365C>T	5.37:g.89989938C>T						GPR98_uc003kjt.2_Silent_p.F161F|GPR98_uc003kjv.2_Silent_p.F55F	p.F2455F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7461	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2455			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.7365C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.687425	0.00738	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.92	0.54	0.17163	.	.	.	.	.	T	0.36303	0.0962	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30357	-0.9981	4	.	.	.	.	10.9671	0.47418	0.0:0.6094:0.0:0.3906	.	.	.	.	L	21	.	.	S	+	2	0	GPR98	90025694	0.010000	0.17322	0.120000	0.21714	0.003000	0.03518	-0.403000	0.07214	0.138000	0.18790	-0.136000	0.14681	TCA		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		18	8	0	0	0	0.006122	0	18	8				
MCTP1	79772	broad.mit.edu	37	5	94208896	94208896	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:94208896T>A	ENST00000515393.1	-	13	1983	c.1984A>T	c.(1984-1986)Aca>Tca	p.T662S	MCTP1_ENST00000312216.8_Missense_Mutation_p.T441S|MCTP1_ENST00000505208.1_Missense_Mutation_p.T441S|MCTP1_ENST00000505078.1_Missense_Mutation_p.T178S|MCTP1_ENST00000429576.2_Missense_Mutation_p.T395S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	662	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACAGTATGTGTTAGCAGTCTA	0.353																																							uc003kkx.2		NA																	0				ovary(2)	2						c.(1984-1986)ACA>TCA		multiple C2 domains, transmembrane 1 isoform L							150.0	132.0	138.0					5																	94208896		2203	4299	6502	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94208896T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1984A>T	5.37:g.94208896T>A	ENSP00000424126:p.Thr662Ser					MCTP1_uc003kkv.2_Missense_Mutation_p.T441S|MCTP1_uc003kkw.2_Missense_Mutation_p.T395S|MCTP1_uc003kkz.2_Missense_Mutation_p.T323S|MCTP1_uc003kku.2_Missense_Mutation_p.T178S	p.T662S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	13	1984	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	662			C2 3.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1984A>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123899	0.77436	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.35	5.35	0.76521	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	L	0.49778	1.585	0.80722	D	1	D;D;D	0.71674	0.99;0.993;0.998	D;D;D	0.87578	0.998;0.992;0.998	D	0.90347	0.4363	10	0.52906	T	0.07	-11.9299	15.3305	0.74203	0.0:0.0:0.0:1.0	.	662;395;441	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	S	662;395;178;441;382;323;441;263	ENSP00000424126:T662S;ENSP00000391639:T395S;ENSP00000426417:T178S;ENSP00000308957:T441S;ENSP00000423410:T382S;ENSP00000431075:T323S;ENSP00000426438:T441S;ENSP00000426294:T263S	ENSP00000308957:T441S	T	-	1	0	MCTP1	94234652	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	7.593000	0.82686	2.020000	0.59435	0.533000	0.62120	ACA		0.353	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		13	10	0	0	0	0.001855	0	13	10				
APC	324	broad.mit.edu	37	5	112175950	112175950	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:112175950A>G	ENST00000457016.1	+	16	5039	c.4659A>G	c.(4657-4659)gcA>gcG	p.A1553A	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.A1553A|APC_ENST00000508376.2_Silent_p.A1553A			P25054	APC_HUMAN	adenomatous polyposis coli	1553	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1554fs*11(1)|p.K1192fs*3(1)|p.?(1)|p.E1554fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAAGAGGCAGAAAAAACTA	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		4	Deletion - Frameshift(3)|Unknown(1)	p.E1554fs*11(1)|p.K1192fs*3(1)|p.?(1)	large_intestine(1)|soft_tissue(1)|breast(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CI004024	APC	I		c.(4657-4659)GCA>GCG		adenomatous polyposis coli							79.0	86.0	84.0					5																	112175950		2202	4300	6502	SO:0001819	synonymous_variant	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175950A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4659A>G	5.37:g.112175950A>G		TSP Lung(16;0.13)				APC_uc011cvt.1_Silent_p.A1535A|APC_uc003kpz.3_Silent_p.A1553A|APC_uc003kpy.3_Silent_p.A1553A|APC_uc010jbz.2_Silent_p.A1270A|APC_uc010jca.2_Silent_p.A853A	p.A1553A	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5039	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1553			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.4659A>G	CCDS4107.1																																																																																				0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		16	8	0	0	0	0.004007	0	16	8				
TSSK1B	83942	broad.mit.edu	37	5	112769886	112769886	+	Silent	SNP	G	G	A	rs201968720		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:112769886G>A	ENST00000390666.3	-	1	842	c.651C>T	c.(649-651)gaC>gaT	p.D217D	CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGTTGGAGTCGTCGTAGGGCA	0.577													g|||	1	0.000199681	0.0	0.0014	5008	,	,		20676	0.0		0.0	False		,,,				2504	0.0						uc003kqm.2		NA																	0				ovary(2)|skin(2)|stomach(1)	5						c.(649-651)GAC>GAT		testis-specific serine kinase 1		A	,	1,4403	2.1+/-5.4	0,1,2201	72.0	67.0	69.0		,651	-2.5	0.4	5		69	0,8600		0,0,4300	no	intron,coding-synonymous	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	,217/368	112769886	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769886G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.651C>T	5.37:g.112769886G>A						MCC_uc003kql.3_Intron	p.D217D	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	843	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	217			Protein kinase.		B2R8D9	Silent	SNP	ENST00000390666.3	37	c.651C>T	CCDS4112.1																																																																																				0.577	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		37	2	0	0	0	0.007835	0	37	2				
DMXL1	1657	broad.mit.edu	37	5	118513159	118513159	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:118513159C>T	ENST00000311085.8	+	27	6946	c.6866C>T	c.(6865-6867)aCg>aTg	p.T2289M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T2289M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2289								p.T2289M(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTCCCAATACGTCACCAGCT	0.353																																							uc003ksd.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(6865-6867)ACG>ATG		Dmx-like 1							98.0	97.0	98.0					5																	118513159		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118513159C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6866C>T	5.37:g.118513159C>T	ENSP00000309690:p.Thr2289Met					DMXL1_uc010jcl.1_Missense_Mutation_p.T2289M	p.T2289M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	27	7047	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2289						Missense_Mutation	SNP	ENST00000311085.8	37	c.6866C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625990	0.66901	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.14893	2.47;2.47	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.83603	2.65	0.54753	D	0.999989	D;D	0.71674	0.994;0.998	P;P	0.60068	0.868;0.8	T	0.45160	-0.9280	10	0.87932	D	0	-10.315	13.0644	0.59025	0.0:0.8673:0.0:0.1327	.	2289;2289	F5H269;Q9Y485	.;DMXL1_HUMAN	M	2289	ENSP00000309690:T2289M;ENSP00000439479:T2289M	ENSP00000309690:T2289M	T	+	2	0	DMXL1	118541058	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.559000	0.67326	1.542000	0.49330	-0.136000	0.14681	ACG		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		16	2	0	0	0	0.007413	0	16	2				
SLC12A2	6558	broad.mit.edu	37	5	127449957	127449957	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:127449957G>C	ENST00000262461.2	+	3	1119	c.930G>C	c.(928-930)tgG>tgC	p.W310C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.W310C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	310					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GATTGTCATGGATTGTGGGTC	0.378																																							uc003kus.2		NA																	0				ovary(3)	3						c.(928-930)TGG>TGC		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						328.0	308.0	315.0					5																	127449957		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127449957G>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.930G>C	5.37:g.127449957G>C	ENSP00000262461:p.Trp310Cys					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.W310C	p.W310C	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	3	1094	+		all_cancers(142;0.0972)|Prostate(80;0.151)	310			Extracellular (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.930G>C	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239412	0.79800	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98835	-5.17;-5.17	5.54	5.54	0.83059	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98220	1.0477	10	0.87932	D	0	.	18.4149	0.90565	0.0:0.0:1.0:0.0	.	310;310	P55011-3;P55011	.;S12A2_HUMAN	C	310	ENSP00000262461:W310C;ENSP00000340878:W310C	ENSP00000262461:W310C	W	+	3	0	SLC12A2	127477856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.838000	0.92115	2.880000	0.98712	0.650000	0.86243	TGG		0.378	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		30	54	0	0	0	0.008361	0	30	54				
FBN2	2201	broad.mit.edu	37	5	127611786	127611786	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:127611786T>A	ENST00000508053.1	-	65	8512	c.7538A>T	c.(7537-7539)tAt>tTt	p.Y2513F	FBN2_ENST00000262464.4_Missense_Mutation_p.Y2513F			P35556	FBN2_HUMAN	fibrillin 2	2513	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAACACTGATAACTCCCCTC	0.453																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7537-7539)TAT>TTT		fibrillin 2 precursor							207.0	178.0	188.0					5																	127611786		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127611786T>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7538A>T	5.37:g.127611786T>A	ENSP00000424571:p.Tyr2513Phe						p.Y2513F	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	59	7977	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2513			EGF-like 42; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7538A>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477782	0.44044	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.90261	-2.64;-2.64	5.01	5.01	0.66863	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000042	D	0.89033	0.6600	L	0.37897	1.145	0.54753	D	0.999989	P	0.43578	0.811	P	0.49665	0.618	D	0.86207	0.1622	10	0.17369	T	0.5	.	15.1844	0.72989	0.0:0.0:0.0:1.0	.	2513	P35556	FBN2_HUMAN	F	2513	ENSP00000262464:Y2513F;ENSP00000424571:Y2513F	ENSP00000262464:Y2513F	Y	-	2	0	FBN2	127639685	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.932000	0.63476	2.231000	0.72958	0.533000	0.62120	TAT		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		52	7	0	0	0	0.00361	0	52	7				
SLC27A6	28965	broad.mit.edu	37	5	128368848	128368848	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:128368848T>C	ENST00000262462.4	+	10	2743	c.1733T>C	c.(1732-1734)gTg>gCg	p.V578A	SLC27A6_ENST00000506176.1_Missense_Mutation_p.V578A|SLC27A6_ENST00000395266.1_Missense_Mutation_p.V578A			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	578					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATCAGTTGGTGGAAGATGGA	0.323																																							uc003kuy.2		NA																	0					0						c.(1732-1734)GTG>GCG		solute carrier family 27 (fatty acid							59.0	58.0	58.0					5																	128368848		2203	4293	6496	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128368848T>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1733T>C	5.37:g.128368848T>C	ENSP00000262462:p.Val578Ala					SLC27A6_uc003kuz.2_Missense_Mutation_p.V578A	p.V578A	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	11	2129	+		all_cancers(142;0.0483)|Prostate(80;0.055)	578					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1733T>C	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	7.247	0.602403	0.13939	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.48201	0.82;0.82;0.82	3.85	3.85	0.44370	.	0.071757	0.56097	D	0.000036	T	0.40094	0.1103	L	0.56124	1.755	0.40941	D	0.984469	B	0.15719	0.014	B	0.24394	0.053	T	0.29150	-1.0021	9	.	.	.	22.5948	8.1712	0.31256	0.0:0.0941:0.0:0.9058	.	578	Q9Y2P4	S27A6_HUMAN	A	578	ENSP00000262462:V578A;ENSP00000378684:V578A;ENSP00000421024:V578A	.	V	+	2	0	SLC27A6	128396747	1.000000	0.71417	0.643000	0.29450	0.048000	0.14542	3.479000	0.53165	1.984000	0.57885	0.477000	0.44152	GTG		0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		24	2	0	0	0	0.005443	0	24	2				
ADAMTS19	171019	broad.mit.edu	37	5	129037211	129037211	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:129037211C>A	ENST00000274487.4	+	20	3212	c.3067C>A	c.(3067-3069)Ccc>Acc	p.P1023T	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1023	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGCATTGGGCCCAAGCCCGC	0.582																																							uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(3067-3069)CCC>ACC		ADAM metallopeptidase with thrombospondin type 1							79.0	69.0	72.0					5																	129037211		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037211C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3067C>A	5.37:g.129037211C>A	ENSP00000274487:p.Pro1023Thr					ADAMTS19_uc010jdh.1_RNA	p.P1023T	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3067	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1023			TSP type-1 3.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3067C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	9.437	1.086948	0.20390	.	.	ENSG00000145808	ENST00000274487	T	0.52754	0.65	4.0	3.12	0.35913	.	0.210998	0.32533	N	0.005961	T	0.46308	0.1386	L	0.42529	1.33	0.28286	N	0.923743	P	0.44344	0.833	P	0.46685	0.524	T	0.42749	-0.9433	9	.	.	.	.	14.6176	0.68560	0.0:0.8527:0.1473:0.0	.	1023	Q8TE59	ATS19_HUMAN	T	1023	ENSP00000274487:P1023T	.	P	+	1	0	ADAMTS19	129065110	0.104000	0.21937	0.072000	0.20136	0.028000	0.11728	2.424000	0.44714	1.250000	0.43966	0.650000	0.86243	CCC		0.582	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		39	11	1	0	5.44703e-19	0.009718	7.88514e-19	39	11				
CHSY3	337876	broad.mit.edu	37	5	129520888	129520888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:129520888G>T	ENST00000305031.4	+	3	2411	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	685					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCCCAAAGCAGAAATGACCCT	0.438																																							uc003kvd.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2053-2055)GAA>TAA		chondroitin sulfate synthase 3							74.0	69.0	71.0					5																	129520888		2203	4300	6503	SO:0001587	stop_gained	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520888G>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2053G>T	5.37:g.129520888G>T	ENSP00000302629:p.Glu685*						p.E685*	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2053	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	685			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Nonsense_Mutation	SNP	ENST00000305031.4	37	c.2053G>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	39	7.465465	0.98302	.	.	ENSG00000198108	ENST00000305031	.	.	.	4.23	4.23	0.50019	.	0.219188	0.31566	N	0.007435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.8772	17.931	0.88998	0.0:0.0:1.0:0.0	.	.	.	.	X	685	.	.	E	+	1	0	CHSY3	129548787	1.000000	0.71417	0.985000	0.45067	0.951000	0.60555	9.601000	0.98297	2.630000	0.89119	0.650000	0.86243	GAA		0.438	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		36	2	1	0	4.65686e-17	0.003755	6.48407e-17	36	2				
TRPC7	57113	broad.mit.edu	37	5	135601950	135601950	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:135601950G>C	ENST00000513104.1	-	5	1585	c.1303C>G	c.(1303-1305)Cag>Gag	p.Q435E	TRPC7_ENST00000426057.2_Missense_Mutation_p.Q319E|TRPC7_ENST00000355180.3_Missense_Mutation_p.Q374E	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	435					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGGAGAACTGTGTGGTTTTC	0.378																																							uc003lbn.1		NA																	0					0						c.(1300-1302)CAG>GAG		transient receptor potential cation channel,							236.0	225.0	228.0					5																	135601950		1867	4113	5980	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135601950G>C	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1303C>G	5.37:g.135601950G>C	ENSP00000426070:p.Gln435Glu					TRPC7_uc010jef.1_Missense_Mutation_p.Q371E|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.Q365E|TRPC7_uc010jei.1_Missense_Mutation_p.Q310E|TRPC7_uc010jej.1_Intron	p.Q434E	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1303	-			435			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1300C>G	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.622|4.622	0.115641|0.115641	0.08831|0.08831	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|T;T;T	0.77750|0.79845	-0.97;-1.12;-1.03|-1.24;-1.1;-1.31	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77772|0.77772	0.4180|0.4180	L|L	0.50333|0.50333	1.59|1.59	0.35010|0.35010	D|D	0.756814|0.756814	B;B;B;B|.	0.17852|.	0.006;0.024;0.014;0.014|.	B;B;B;B|.	0.21917|.	0.017;0.037;0.01;0.01|.	T|T	0.73883|0.73883	-0.3842|-0.3842	10|7	0.13108|0.05833	T|T	0.6|0.94	-18.235|-18.235	14.1791|14.1791	0.65562|0.65562	0.0:0.0:0.8505:0.1494|0.0:0.0:0.8505:0.1494	.|.	319;374;380;435|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	E|R	374;319;435;435|318;373;379	ENSP00000347312:Q374E;ENSP00000441628:Q319E;ENSP00000426070:Q435E|ENSP00000330322:T318R;ENSP00000367720:T373R;ENSP00000424854:T379R	ENSP00000265193:Q435E|ENSP00000330322:T318R	Q|T	-|-	1|2	0|0	TRPC7|TRPC7	135629849|135629849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.805000|4.805000	0.62561|0.62561	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	CAG|ACA		0.378	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		60	20	0	0	0	0.00361	0	60	20				
TRPC7	57113	broad.mit.edu	37	5	135651404	135651405	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:135651404_135651405GG>TT	ENST00000513104.1	-	3	1125_1126	c.843_844CC>AA	c.(841-846)tgCCga>tgAAga	p.C281*	TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	281					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGTGTCTCGGCACAGGTCCA	0.48																																							uc003lbn.1		NA																	0					0						c.(838-843)TGCCGA>TGAAGA		transient receptor potential cation channel,																																				SO:0001587	stop_gained	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135651404_135651405GG>TT	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.843_844delinsTT	5.37:g.135651404_135651405delinsTT	ENSP00000426070:p.Cys281*					TRPC7_uc010jef.1_Nonsense_Mutation_p.C272*|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	p.C280*	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	843_844	-			281			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Nonsense_Mutation	DNP	ENST00000513104.1	37	c.840_841CC>AA	CCDS47267.2																																																																																				0.480	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		21	4	0	0	0	0.004672	0	21	4				
TRPC7	57113	broad.mit.edu	37	5	135692480	135692480	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:135692480T>A	ENST00000513104.1	-	2	878	c.596A>T	c.(595-597)aAg>aTg	p.K199M	TRPC7_ENST00000426057.2_Missense_Mutation_p.K199M|TRPC7_ENST00000355180.3_Missense_Mutation_p.K199M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	199					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCATTGCACTTGCAGAAGTA	0.607																																							uc003lbn.1		NA																	0					0						c.(592-594)AAG>ATG		transient receptor potential cation channel,							70.0	76.0	74.0					5																	135692480		2178	4276	6454	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692480T>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.596A>T	5.37:g.135692480T>A	ENSP00000426070:p.Lys199Met					TRPC7_uc010jef.1_Missense_Mutation_p.K190M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.K190M|TRPC7_uc010jei.1_Missense_Mutation_p.K190M|TRPC7_uc010jej.1_Translation_Start_Site	p.K198M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	596	-			199			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.593A>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.62|19.62	3.862507|3.862507	0.71949|0.71949	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.77620|.	-1.11;-1.11;-1.11|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Transient receptor potential II (1);|.	0.044457|.	0.85682|.	D|.	0.000000|.	T|T	0.49609|0.49609	0.1567|0.1567	L|L	0.40543|0.40543	1.245|1.245	0.31633|0.31633	N|N	0.648833|0.648833	P;D;P;P|.	0.60575|.	0.911;0.988;0.941;0.903|.	P;P;P;P|.	0.61874|.	0.67;0.77;0.895;0.796|.	T|T	0.55296|0.55296	-0.8163|-0.8163	10|5	0.59425|.	D|.	0.04|.	-26.0472|-26.0472	15.3565|15.3565	0.74431|0.74431	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	199;199;199;199|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	M|H	199|198	ENSP00000347312:K199M;ENSP00000441628:K199M;ENSP00000426070:K199M|.	ENSP00000265193:K199M|.	K|Q	-|-	2|3	0|2	TRPC7|TRPC7	135720379|135720379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	6.145000|6.145000	0.71769|0.71769	2.205000|2.205000	0.71048|0.71048	0.528000|0.528000	0.53228|0.53228	AAG|CAA		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		54	12	0	0	0	0.00361	0	54	12				
WNT8A	7478	broad.mit.edu	37	5	137420278	137420278	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:137420278G>T	ENST00000398754.1	+	3	199	c.194G>T	c.(193-195)tGc>tTc	p.C65F	WNT8A_ENST00000506684.1_Missense_Mutation_p.C83F	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	65					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CGCTGGAACTGCCCTGAAAAT	0.527																																							uc003lcd.1		NA																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(193-195)TGC>TTC		wingless-type MMTV integration site family,							77.0	82.0	80.0					5																	137420278		2096	4248	6344	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137420278G>T	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.194G>T	5.37:g.137420278G>T	ENSP00000381739:p.Cys65Phe					BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.C83F|WNT8A_uc011cyk.1_Missense_Mutation_p.C83F	p.C65F	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	199	+			65					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.194G>T	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409698	0.83340	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	D;D;D	0.88201	-2.35;-2.35;-2.35	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.96648	0.8906	H	0.98351	4.21	0.80722	D	1	D;P;P	0.54207	0.965;0.91;0.884	P;P;P	0.61722	0.893;0.737;0.565	D	0.98019	1.0370	10	0.87932	D	0	.	18.7819	0.91937	0.0:0.0:1.0:0.0	.	83;83;65	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	F	83;83;65	ENSP00000426653:C83F;ENSP00000424809:C83F;ENSP00000381739:C65F	ENSP00000354726:C65F	C	+	2	0	WNT8A	137448177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.746000	0.94184	0.655000	0.94253	TGC		0.527	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		48	5	1	0	2.01872e-29	0.00361	3.34263e-29	48	5				
PAIP2	51247	broad.mit.edu	37	5	138704432	138704432	+	Missense_Mutation	SNP	A	A	T	rs151272131		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:138704432A>T	ENST00000394795.2	+	4	1320	c.329A>T	c.(328-330)aAt>aTt	p.N110I	CTB-43P18.1_ENST00000503553.3_RNA|SLC23A1_ENST00000348729.3_Intron|PAIP2_ENST00000511706.1_Missense_Mutation_p.N50I|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.N110I|PAIP2_ENST00000510080.1_Missense_Mutation_p.N110I|SLC23A1_ENST00000353963.3_Intron			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	110	PABPC1-interacting motif-2 (PAM2).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCAAGAGCAATCTGAATCCA	0.388																																							uc003led.2		NA																	0					0						c.(328-330)AAT>ATT		poly(A) binding protein interacting protein 2							152.0	151.0	151.0					5																	138704432		2203	4300	6503	SO:0001583	missense	51247				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity	g.chr5:138704432A>T	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.329A>T	5.37:g.138704432A>T	ENSP00000378275:p.Asn110Ile					PAIP2_uc003lee.2_Missense_Mutation_p.N110I|PAIP2_uc003lef.2_Missense_Mutation_p.N110I|SLC23A1_uc003leh.2_Intron|SLC23A1_uc003leg.2_Intron	p.N110I	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	506	+			110			PABPC1-interacting motif-2 (PAM2).		B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	c.329A>T	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700572	0.48307	.	.	ENSG00000120727	ENST00000265192;ENST00000511706;ENST00000394795;ENST00000510080	.	.	.	5.54	5.54	0.83059	Ataxin-2, C-terminal (1);	0.216882	0.48767	D	0.000168	T	0.35566	0.0936	N	0.19112	0.55	0.80722	D	1	B	0.27559	0.181	B	0.20384	0.029	T	0.24870	-1.0148	9	0.51188	T	0.08	-23.2263	9.9227	0.41474	0.9241:0.0:0.0759:0.0	.	110	Q9BPZ3	PAIP2_HUMAN	I	110;50;110;110	.	ENSP00000265192:N110I	N	+	2	0	PAIP2	138732331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.989000	0.56958	2.323000	0.78572	0.528000	0.53228	AAT		0.388	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		38	11	0	0	0	0.002522	0	38	11				
PCDHA12	56137	broad.mit.edu	37	5	140255556	140255556	+	Missense_Mutation	SNP	C	C	A	rs17844352		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140255556C>A	ENST00000398631.2	+	1	499	c.499C>A	c.(499-501)Ctt>Att	p.L167I	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	167	Cadherin 2. {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(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAAACTCTCTTTTGACCTA	0.378																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(499-501)CTT>ATT		protocadherin alpha 12 isoform 1 precursor							50.0	58.0	55.0					5																	140255556		2138	4270	6408	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255556C>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.499C>A	5.37:g.140255556C>A	ENSP00000381628:p.Leu167Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L167I	p.L167I	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	626	+			167			Extracellular (Potential).|Cadherin 2.		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.499C>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	7.354	0.623559	0.14193	.	.	ENSG00000251664	ENST00000398631	T	0.52057	0.68	5.07	2.23	0.28157	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37320	0.0999	L	0.37466	1.105	0.09310	N	1	B;B	0.22080	0.042;0.064	B;B	0.34991	0.193;0.033	T	0.42498	-0.9448	9	0.45353	T	0.12	.	2.0818	0.03636	0.2761:0.4386:0.1341:0.1511	.	167;167	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	I	167	ENSP00000381628:L167I	ENSP00000381628:L167I	L	+	1	0	PCDHA12	140235740	0.000000	0.05858	0.005000	0.12908	0.819000	0.46315	-1.784000	0.01769	0.142000	0.18901	0.591000	0.81541	CTT		0.378	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		47	14	1	0	8.78508e-14	0.00361	1.1449e-13	47	14				
PCDHA13	56136	broad.mit.edu	37	5	140262281	140262281	+	Missense_Mutation	SNP	C	C	A	rs140980938		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140262281C>A	ENST00000289272.2	+	1	428	c.428C>A	c.(427-429)gCa>gAa	p.A143E	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A143E|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	143	Cadherin 2. {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(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATCATTGCAGAATCTAGA	0.493																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(427-429)GCA>GAA		protocadherin alpha 13 isoform 1 precursor							98.0	100.0	100.0					5																	140262281		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262281C>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.428C>A	5.37:g.140262281C>A	ENSP00000289272:p.Ala143Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A143E|PCDHA13_uc003lid.2_Missense_Mutation_p.A143E	p.A143E	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	428	+			143			Extracellular (Potential).|Cadherin 2.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.428C>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154611	0.38021	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.49432	0.78;0.78	5.49	2.69	0.31865	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.55673	0.1935	L	0.58810	1.83	0.09310	N	1	P;P;P	0.52842	0.678;0.887;0.956	P;P;P	0.58391	0.838;0.478;0.828	T	0.42447	-0.9451	9	0.52906	T	0.07	.	6.5818	0.22598	0.1278:0.6599:0.0:0.2123	.	143;143;143	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	143	ENSP00000386821:A143E;ENSP00000289272:A143E	ENSP00000289272:A143E	A	+	2	0	PCDHA13	140242465	0.001000	0.12720	0.003000	0.11579	0.848000	0.48234	1.606000	0.36826	0.258000	0.21686	0.491000	0.48974	GCA		0.493	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		58	15	1	0	5.39261e-20	0.00361	7.93707e-20	58	15				
PCDHB2	56133	broad.mit.edu	37	5	140475165	140475166	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140475165_140475166CC>GA	ENST00000194155.4	+	1	939_940	c.791_792CC>GA	c.(790-792)gCC>gGA	p.A264G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGGTTGCCATCGTCTCTG	0.47																																							uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(790-792)GCC>GGA		protocadherin beta 2 precursor																																				SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475165_140475166CC>GA	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	Exception_encountered	5.37:g.140475165_140475166delinsGA	ENSP00000194155:p.Ala264Gly					PCDHB2_uc003lim.1_5'UTR	p.A264G	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	929_930	+			264			Extracellular (Potential).|Cadherin 3.		Q4KMU1	Missense_Mutation	DNP	ENST00000194155.4	37	c.791_792CC>GA	CCDS4244.1																																																																																				0.470	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		35	8	0	0	0	0.004672	0	35	8				
PCDHB3	56132	broad.mit.edu	37	5	140482211	140482211	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140482211G>A	ENST00000231130.2	+	1	1978	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCATGTGCTCCTGGT	0.711																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1978-1980)GTG>ATG		protocadherin beta 3 precursor							39.0	42.0	41.0					5																	140482211		2161	4215	6376	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482211G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1978G>A	5.37:g.140482211G>A	ENSP00000231130:p.Val660Met					uc003lin.2_5'Flank	p.V660M	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1978	+			660			Extracellular (Potential).|Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1978G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317299	0.40996	.	.	ENSG00000113205	ENST00000231130	T	0.34859	1.34	4.38	1.33	0.21861	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60366	0.2263	M	0.92555	3.32	0.25933	N	0.982971	D	0.67145	0.996	D	0.72338	0.977	T	0.50224	-0.8853	9	0.66056	D	0.02	.	2.4464	0.04507	0.1637:0.2643:0.4337:0.1382	.	660	Q9Y5E6	PCDB3_HUMAN	M	660	ENSP00000231130:V660M	ENSP00000231130:V660M	V	+	1	0	PCDHB3	140462395	0.004000	0.15560	0.998000	0.56505	0.630000	0.37929	0.071000	0.14594	0.409000	0.25649	-0.255000	0.11280	GTG		0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		109	18	0	0	0	0.00361	0	109	18				
PCDHB5	26167	broad.mit.edu	37	5	140515629	140515629	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140515629C>A	ENST00000231134.5	+	1	830	c.613C>A	c.(613-615)Cgg>Agg	p.R205R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	205	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGAGGAGCGGCCTGAGCT	0.542																																							uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(613-615)CGG>AGG		protocadherin beta 5 precursor							72.0	74.0	73.0					5																	140515629		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515629C>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.613C>A	5.37:g.140515629C>A							p.R205R	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	830	+			205			Cadherin 2.|Extracellular (Potential).		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.613C>A	CCDS4247.1																																																																																				0.542	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		76	8	1	0	7.46257e-40	0.00361	1.31925e-39	76	8				
PCDHB16	57717	broad.mit.edu	37	5	140562593	140562593	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140562593T>C	ENST00000361016.2	+	1	1614	c.459T>C	c.(457-459)ccT>ccC	p.P153P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	153	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGTTCCCTCTGAATCATG	0.393																																							uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(457-459)CCT>CCC		protocadherin beta 16 precursor							41.0	42.0	42.0					5																	140562593		2202	4300	6502	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562593T>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.459T>C	5.37:g.140562593T>C						PCDHB16_uc010jfw.1_Intron	p.P153P	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1614	+			153			Extracellular (Potential).|Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.459T>C	CCDS4251.1																																																																																				0.393	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		21	7	0	0	0	0.010504	0	21	7				
PCDHB10	56126	broad.mit.edu	37	5	140574112	140574112	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140574112G>T	ENST00000239446.4	+	1	2171	c.1987G>T	c.(1987-1989)Gtg>Ttg	p.V663L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGCTCCTGGTGGACGGCTT	0.697																																							uc003lix.2		NA																	0				ovary(1)|skin(1)	2						c.(1987-1989)GTG>TTG		protocadherin beta 10 precursor							25.0	28.0	27.0					5																	140574112		2096	3957	6053	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574112G>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1987G>T	5.37:g.140574112G>T	ENSP00000239446:p.Val663Leu						p.V663L	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2161	+			663			Cadherin 6.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1987G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	13.37	2.216404	0.39201	.	.	ENSG00000120324	ENST00000239446	T	0.56275	0.47	3.03	3.03	0.35002	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.66655	0.2811	L	0.49126	1.545	0.29599	N	0.847868	D	0.89917	1.0	D	0.91635	0.999	T	0.63866	-0.6540	9	0.87932	D	0	.	14.1979	0.65684	0.0:0.0:1.0:0.0	.	663	Q9UN67	PCDBA_HUMAN	L	663	ENSP00000239446:V663L	ENSP00000239446:V663L	V	+	1	0	PCDHB10	140554296	0.919000	0.31177	1.000000	0.80357	0.236000	0.25371	1.433000	0.34947	1.704000	0.51252	0.298000	0.19748	GTG		0.697	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		89	19	1	0	5.56898e-48	0.00361	1.00846e-47	89	19				
PCDHGA8	9708	broad.mit.edu	37	5	140774034	140774034	+	Missense_Mutation	SNP	G	G	T	rs558211393		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140774034G>T	ENST00000398604.2	+	1	1654	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGTTCGTGCTGGACCA	0.637																																							uc003lkd.1		NA																	0					0						c.(1654-1656)GTG>TTG		protocadherin gamma subfamily A, 8 isoform 1							109.0	125.0	119.0					5																	140774034		2203	4300	6503	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774034G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1654G>T	5.37:g.140774034G>T	ENSP00000381605:p.Val552Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V552L	p.V552L	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2552	+			552			Extracellular (Potential).|Cadherin 5.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1654G>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	6.524	0.464879	0.12402	.	.	ENSG00000253767	ENST00000398604	T	0.63913	-0.07	5.06	1.74	0.24563	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.369082	0.14627	U	0.308075	T	0.61160	0.2325	M	0.67625	2.065	0.09310	N	1	B;B	0.33103	0.397;0.345	B;B	0.39119	0.291;0.18	T	0.56183	-0.8021	10	0.56958	D	0.05	.	8.6878	0.34249	0.3796:0.0:0.6204:0.0	.	552;552	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	L	552	ENSP00000381605:V552L	ENSP00000381605:V552L	V	+	1	0	PCDHGA8	140754218	0.003000	0.15002	0.007000	0.13788	0.033000	0.12548	0.072000	0.14617	0.515000	0.28320	0.655000	0.94253	GTG		0.637	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		120	28	1	0	3.59472e-76	0.00361	6.74315e-76	120	28				
PCDHGA8	9708	broad.mit.edu	37	5	140774159	140774159	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140774159G>T	ENST00000398604.2	+	1	1779	c.1779G>T	c.(1777-1779)gcG>gcT	p.A593A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAGAG	0.692																																							uc003lkd.1		NA																	0					0						c.(1777-1779)GCG>GCT		protocadherin gamma subfamily A, 8 isoform 1							40.0	49.0	46.0					5																	140774159		2201	4297	6498	SO:0001819	synonymous_variant	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774159G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1779G>T	5.37:g.140774159G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.A593A	p.A593A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2677	+			593			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1779G>T	CCDS47291.1																																																																																				0.692	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		39	73	1	0	1.57019e-19	0.007835	2.29189e-19	39	73				
PCDHGB3	56102	broad.mit.edu	37	5	140778168	140778168	+	Intron	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140778168A>T	ENST00000576222.1	+	1	2546				PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTAGCAGAAGATGCAGATA	0.378																																							uc003lkf.1		NA																	0					0						c.(472-474)GAA>GAT		protocadherin gamma subfamily B, 5 isoform 1							70.0	71.0	71.0					5																	140778168		1872	4116	5988	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778168A>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25792A>T	5.37:g.140778168A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.E158D	p.E158D	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	474	+			158			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.474A>T	CCDS58980.1																																																																																				0.378	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		44	16	0	0	0	0.002522	0	44	16				
PCDH1	5097	broad.mit.edu	37	5	141244741	141244741	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:141244741G>A	ENST00000394536.3	-	3	1294	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	PCDH1_ENST00000456271.1_Silent_p.P373P|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Silent_p.P385P|PCDH1_ENST00000536585.1_Silent_p.P363P|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	385	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCTCAATGGTGGGGGCATTGT	0.582																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NA																	0				ovary(5)	5						c.(1153-1155)CCC>CCT		protocadherin 1 isoform 1 precursor							147.0	126.0	133.0					5																	141244741		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244741G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1155C>T	5.37:g.141244741G>A						PCDH1_uc003llp.2_Silent_p.P385P|PCDH1_uc011dbf.1_Silent_p.P363P	p.P385P	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1272	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	385			Extracellular (Potential).|Cadherin 3.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.1155C>T	CCDS43375.1																																																																																				0.582	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		78	12	0	0	0	0.00361	0	78	12				
PCDH12	51294	broad.mit.edu	37	5	141334615	141334615	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:141334615G>C	ENST00000231484.3	-	1	4012	c.2802C>G	c.(2800-2802)agC>agG	p.S934R	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	934					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGACCAGGCTCCGCAGGA	0.627																																							uc003llx.2		NA																	0				ovary(3)	3						c.(2800-2802)AGC>AGG		protocadherin 12 precursor							44.0	49.0	47.0					5																	141334615		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334615G>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2802C>G	5.37:g.141334615G>C	ENSP00000231484:p.Ser934Arg						p.S934R	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	4013	-		all_hematologic(541;0.0999)	934			Cytoplasmic (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2802C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814162	0.70912	.	.	ENSG00000113555	ENST00000231484	T	0.61980	0.06	4.81	2.0	0.26442	.	0.333020	0.35970	N	0.002872	T	0.70029	0.3177	M	0.72894	2.215	0.36774	D	0.88397	D	0.64830	0.994	P	0.56278	0.795	T	0.74074	-0.3782	10	0.48119	T	0.1	.	11.2843	0.49214	0.2382:0.0:0.7618:0.0	.	934	Q9NPG4	PCD12_HUMAN	R	934	ENSP00000231484:S934R	ENSP00000231484:S934R	S	-	3	2	PCDH12	141314799	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.874000	0.48483	0.270000	0.21984	-0.797000	0.03246	AGC		0.627	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		33	8	0	0	0	0.005524	0	33	8				
TCERG1	10915	broad.mit.edu	37	5	145838514	145838514	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:145838514A>T	ENST00000296702.5	+	4	544	c.506A>T	c.(505-507)cAg>cTg	p.Q169L	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q169L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	169	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGTTATTCAGCAATCAGAA	0.522																																							uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(505-507)CAG>CTG		transcription elongation regulator 1 isoform 1							112.0	104.0	107.0					5																	145838514		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838514A>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.506A>T	5.37:g.145838514A>T	ENSP00000296702:p.Gln169Leu					TCERG1_uc003loc.2_Missense_Mutation_p.Q169L|TCERG1_uc011dbt.1_Missense_Mutation_p.Q169L	p.Q169L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	546	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	169			Ala/Gln-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.506A>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394734	0.62066	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.29917	1.55;1.55	5.08	5.08	0.68730	WW/Rsp5/WWP (1);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	N	0.22421	0.69	0.58432	D	0.999999	D;P;P	0.54601	0.967;0.908;0.851	P;P;P	0.62382	0.901;0.888;0.775	T	0.11792	-1.0573	10	0.33141	T	0.24	-12.9302	14.8071	0.69965	1.0:0.0:0.0:0.0	.	169;169;169	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	L	169	ENSP00000296702:Q169L;ENSP00000377943:Q169L	ENSP00000296702:Q169L	Q	+	2	0	TCERG1	145818707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.356000	0.90085	2.035000	0.60131	0.379000	0.24179	CAG		0.522	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		65	18	0	0	0	0.00361	0	65	18				
PPP2R2B	5521	broad.mit.edu	37	5	146017943	146017943	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:146017943G>T	ENST00000394413.3	-	6	1231	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.L227I|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.L210I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.L210I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.L287I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.L221I|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.L221I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.L224I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.L279I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.L221I			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	221					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCCGTGAGCTCCTCCATG	0.552																																							uc003loe.2		NA																	0				ovary(1)|prostate(1)	2						c.(661-663)CTC>ATC		beta isoform of regulatory subunit B55, protein							129.0	95.0	106.0					5																	146017943		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146017943G>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.661C>A	5.37:g.146017943G>T	ENSP00000377935:p.Leu221Ile					PPP2R2B_uc010jgm.2_Missense_Mutation_p.L210I|PPP2R2B_uc003log.3_Missense_Mutation_p.L221I|PPP2R2B_uc003lof.3_Missense_Mutation_p.L221I|PPP2R2B_uc003loi.3_Missense_Mutation_p.L224I|PPP2R2B_uc003loh.3_Missense_Mutation_p.L221I|PPP2R2B_uc003loj.3_Missense_Mutation_p.L201I|PPP2R2B_uc003lok.3_Missense_Mutation_p.L210I|PPP2R2B_uc011dbu.1_Missense_Mutation_p.L227I|PPP2R2B_uc011dbv.1_Missense_Mutation_p.L279I	p.L221I	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1186	-			221			WD 4.		A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.661C>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297021	0.95574	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.87381	2.88	0.80722	D	1	P;B;B;P;B;B	0.36199	0.543;0.217;0.217;0.543;0.435;0.217	B;B;B;B;P;B	0.52159	0.422;0.296;0.296;0.422;0.691;0.296	T	0.64179	-0.6468	10	0.87932	D	0	-13.2961	19.2066	0.93732	0.0:0.0:1.0:0.0	.	279;227;210;287;224;221	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	I	221;210;287;221;221;221;210;224;227;279	ENSP00000377935:L221I;ENSP00000431320:L210I;ENSP00000377936:L287I;ENSP00000377933:L221I;ENSP00000349283:L221I;ENSP00000398779:L221I;ENSP00000377932:L210I;ENSP00000336591:L224I;ENSP00000421396:L227I;ENSP00000377931:L279I	ENSP00000336591:L224I	L	-	1	0	AC011357.1	145998136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.197000	0.72100	2.536000	0.85505	0.650000	0.86243	CTC		0.552	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		24	21	1	0	0.00465635	0.004656	0.00480031	24	21				
SPINK9	643394	broad.mit.edu	37	5	147718114	147718114	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:147718114G>A	ENST00000377906.1	+	3	216	c.161G>A	c.(160-162)tGt>tAt	p.C54Y	SPINK9_ENST00000511717.2_Missense_Mutation_p.C75Y|RP11-373N22.3_ENST00000501695.3_RNA	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	54	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCAATTTGTGGATCTGAT	0.279																																							uc003lpe.1		NA																	0					0						c.(160-162)TGT>TAT		serine peptidase inhibitor, Kazal type 9							80.0	84.0	83.0					5																	147718114		2202	4299	6501	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147718114G>A	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"""Serine peptidase inhibitors, Kazal type"""	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.161G>A	5.37:g.147718114G>A	ENSP00000367139:p.Cys54Tyr					uc003lpb.1_Intron	p.C54Y	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	216	+			54			Kazal-like.		B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.161G>A	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852446	0.32699	.	.	ENSG00000204909	ENST00000511717;ENST00000377906	D;D	0.98313	-4.86;-4.86	4.1	3.22	0.36961	Proteinase inhibitor I1, Kazal (3);	0.000000	0.64402	D	0.000002	D	0.98523	0.9507	.	.	.	0.37172	D	0.903076	D	0.89917	1.0	D	0.97110	1.0	D	0.99890	1.1133	9	0.87932	D	0	-19.2744	7.6686	0.28445	0.1163:0.0:0.8837:0.0	.	54	Q5DT21	ISK9_HUMAN	Y	75;54	ENSP00000427240:C75Y;ENSP00000367139:C54Y	ENSP00000367139:C54Y	C	+	2	0	SPINK9	147698307	1.000000	0.71417	0.999000	0.59377	0.361000	0.29550	2.172000	0.42463	1.065000	0.40693	0.650000	0.86243	TGT		0.279	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		14	8	0	0	0	0.006122	0	14	8				
PCYOX1L	78991	broad.mit.edu	37	5	148743716	148743716	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:148743716G>A	ENST00000274569.4	+	3	475	c.413G>A	c.(412-414)gGc>gAc	p.G138D	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.G48D	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	138					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACTATGGCATCAGCTTC	0.612																																					Ovarian(62;1136 1477 27277 27495)	Ovarian(62;1136 1477 27277 27495)	uc003lqk.2		NA																	0				skin(1)	1						c.(412-414)GGC>GAC		prenylcysteine oxidase 1 like precursor							111.0	104.0	106.0					5																	148743716		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148743716G>A		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.413G>A	5.37:g.148743716G>A	ENSP00000274569:p.Gly138Asp					PCYOX1L_uc003lql.2_Missense_Mutation_p.G121D|PCYOX1L_uc010jgz.2_Missense_Mutation_p.G121D|PCYOX1L_uc003lqm.2_Missense_Mutation_p.G20D|PCYOX1L_uc003lqn.2_Missense_Mutation_p.G48D	p.G138D	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	475	+			138					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.413G>A	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333511	0.95758	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.40476	1.03;1.03	5.74	5.74	0.90152	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.72343	-0.4322	10	0.62326	D	0.03	-31.4325	19.9204	0.97084	0.0:0.0:1.0:0.0	.	20;48;138	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	D	138;48	ENSP00000274569:G138D;ENSP00000428512:G48D	ENSP00000274569:G138D	G	+	2	0	PCYOX1L	148723909	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.721000	0.93114	0.491000	0.48974	GGC		0.612	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		38	8	0	0	0	0.005524	0	38	8				
CSNK1A1	1452	broad.mit.edu	37	5	148930456	148930456	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:148930456C>G	ENST00000377843.2	-	1	551	c.72G>C	c.(70-72)ggG>ggC	p.G24G	CSNK1A1_ENST00000515768.1_Silent_p.G24G|CSNK1A1_ENST00000504676.1_5'Flank|CSNK1A1_ENST00000515435.1_5'Flank|CSNK1A1_ENST00000261798.5_Silent_p.G24G|CSNK1A1_ENST00000515748.2_Silent_p.G24G	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AGGAGCCAGACCCGATCTTCC	0.537																																					Colon(5;64 69 1309 10383)	Colon(5;64 69 1309 10383)	uc003lqx.1		NA																	0				breast(1)	1						c.(70-72)GGG>GGC		casein kinase 1, alpha 1 isoform 2							107.0	118.0	114.0					5																	148930456		2152	4287	6439	SO:0001819	synonymous_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity	g.chr5:148930456C>G	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.72G>C	5.37:g.148930456C>G						CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Silent_p.G24G|CSNK1A1_uc003lqy.1_Silent_p.G24G|CSNK1A1_uc010jha.1_Silent_p.G24G	p.G24G	NM_001892	NP_001883	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	1	552	-			24			ATP (By similarity).|Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Silent	SNP	ENST00000377843.2	37	c.72G>C	CCDS47303.1																																																																																				0.537	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		29	97	0	0	0	0.009535	0	29	97				
CSF1R	1436	broad.mit.edu	37	5	149435882	149435882	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:149435882G>C	ENST00000286301.3	-	18	2633	c.2342C>G	c.(2341-2343)gCg>gGg	p.A781G		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in HDLS). {ECO:0000269|PubMed:22197934}.		cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CACGTTACGCGCTGCCACGTC	0.572																																							uc003lrl.2		NA																	0				haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(2341-2343)GCG>GGG		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						112.0	100.0	104.0					5																	149435882		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149435882G>C	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2342C>G	5.37:g.149435882G>C	ENSP00000286301:p.Ala781Gly					CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.A781G	p.A781G	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		17	2537	-			781			Protein kinase.|Cytoplasmic (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2342C>G	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671449	0.67814	.	.	ENSG00000182578	ENST00000286301	D	0.90133	-2.62	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000060	D	0.94948	0.8366	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95394	0.8484	10	0.87932	D	0	.	18.2167	0.89887	0.0:0.0:1.0:0.0	.	781	P07333	CSF1R_HUMAN	G	781	ENSP00000286301:A781G	ENSP00000286301:A781G	A	-	2	0	CSF1R	149416075	1.000000	0.71417	0.671000	0.29857	0.088000	0.18126	9.657000	0.98554	2.543000	0.85770	0.462000	0.41574	GCG		0.572	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		18	30	0	0	0	0.006122	0	18	30				
MYOZ3	91977	broad.mit.edu	37	5	150056314	150056314	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:150056314C>A	ENST00000520112.1	+	2	492	c.382C>A	c.(382-384)Cag>Aag	p.Q128K	MYOZ3_ENST00000297130.4_Silent_p.P211P|MYOZ3_ENST00000517768.1_Silent_p.P211P|MYOZ3_ENST00000456566.2_3'UTR					myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACTTTTCCCAGGCCAGGCA	0.637																																							uc003lss.2		NA																	0				skin(1)	1						c.(631-633)CCC>CCA		myozenin 3							63.0	74.0	70.0					5																	150056314		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150056314C>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000520112.1:c.382C>A	5.37:g.150056314C>A	ENSP00000429439:p.Gln128Lys					MYOZ3_uc003lsr.2_Silent_p.P211P	p.P211P	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1220	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	211						Silent	SNP	ENST00000520112.1	37	c.633C>A		.	.	.	.	.	.	.	.	.	.	C	4.468	0.086750	0.08583	.	.	ENSG00000164591	ENST00000520112	.	.	.	5.2	3.41	0.39046	.	.	.	.	.	T	0.43211	0.1237	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36480	-0.9746	5	0.87932	D	0	-6.7592	7.225	0.26010	0.0:0.725:0.1813:0.0937	.	.	.	.	K	128	.	ENSP00000429439:Q128K	Q	+	1	0	MYOZ3	150036507	0.001000	0.12720	0.300000	0.25030	0.161000	0.22273	0.729000	0.26028	0.578000	0.29487	0.655000	0.94253	CAG		0.637	MYOZ3-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000374429.1	NM_001122853		87	18	1	0	5.00163e-47	0.00361	9.04033e-47	87	18				
FAT2	2196	broad.mit.edu	37	5	150905469	150905469	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:150905469G>A	ENST00000261800.5	-	17	10378	c.10366C>T	c.(10366-10368)Cca>Tca	p.P3456S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3456	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTCTCTGGAGAATCTGGG	0.567																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(10366-10368)CCA>TCA		FAT tumor suppressor 2 precursor							51.0	49.0	50.0					5																	150905469		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150905469G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10366C>T	5.37:g.150905469G>A	ENSP00000261800:p.Pro3456Ser					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P149S	p.P3456S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	10379	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3456			Extracellular (Potential).|Cadherin 31.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10366C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.13|10.13	1.265584|1.265584	0.23136|0.23136	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|T	0.59224|0.54071	0.28|0.59	5.09|5.09	4.17|4.17	0.49024|0.49024	Cadherin (4);Cadherin-like (1);|.	0.092273|.	0.47852|.	D|.	0.000213|.	T|T	0.40932|0.40932	0.1137|0.1137	N|N	0.12887|0.12887	0.27|0.27	0.51233|0.51233	D|D	0.999915|0.999915	D;D|.	0.76494|.	0.991;0.999|.	D;D|.	0.66602|.	0.94;0.945|.	T|T	0.42447|0.42447	-0.9451|-0.9451	10|7	0.05351|0.87932	T|D	0.99|0	.|.	9.0628|9.0628	0.36444|0.36444	0.0769:0.0:0.776:0.1471|0.0769:0.0:0.776:0.1471	.|.	3456;647|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	S|F	3456|314	ENSP00000261800:P3456S|ENSP00000429678:S314F	ENSP00000261800:P3456S|ENSP00000429678:S314F	P|S	-|-	1|2	0|0	FAT2|FAT2	150885662|150885662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.078000|3.078000	0.50096|0.50096	2.529000|2.529000	0.85273|0.85273	0.544000|0.544000	0.68410|0.68410	CCA|TCC		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		20	18	0	0	0	0.008871	0	20	18				
GLRA1	2741	broad.mit.edu	37	5	151266335	151266335	+	Missense_Mutation	SNP	C	C	T	rs142888296		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:151266335C>T	ENST00000455880.2	-	3	485	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	GLRA1_ENST00000274576.4_Missense_Mutation_p.V67M|GLRA1_ENST00000545569.1_De_novo_Start_InFrame|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	67					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGCAGCTCACGTTCACTGGG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19163	0.0		0.0	False		,,,				2504	0.001						uc003lut.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(199-201)GTG>ATG		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111.0	100.0	104.0		199,199	5.4	1.0	5	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	GLRA1	NM_000171.3,NM_001146040.1	21,21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	67/450,67/458	151266335	2,13004	2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151266335C>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.199G>A	5.37:g.151266335C>T	ENSP00000411593:p.Val67Met					GLRA1_uc003lur.2_Missense_Mutation_p.V67M|GLRA1_uc003lus.2_Translation_Start_Site	p.V67M	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	486	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	67			Extracellular (Probable).		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.199G>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630903	0.87660	2.27E-4	1.16E-4	ENSG00000145888	ENST00000274576;ENST00000455880	D;D	0.87491	-2.26;-2.26	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.95831	0.8643	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96857	0.9629	10	0.87932	D	0	.	19.2864	0.94072	0.0:1.0:0.0:0.0	.	67;67	P23415;P23415-2	GLRA1_HUMAN;.	M	67	ENSP00000274576:V67M;ENSP00000411593:V67M	ENSP00000274576:V67M	V	-	1	0	GLRA1	151246528	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.311000	0.78958	2.559000	0.86315	0.655000	0.94253	GTG		0.488	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			57	12	0	0	0	0.00361	0	57	12				
KIF4B	285643	broad.mit.edu	37	5	154397119	154397119	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:154397119C>T	ENST00000435029.4	+	1	3860	c.3700C>T	c.(3700-3702)Cac>Tac	p.H1234Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1234	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAAGAGGCCCACTGAAGTTG	0.478																																							uc010jih.1		NA																	0				ovary(1)	1						c.(3700-3702)CAC>TAC		kinesin family member 4B							31.0	32.0	31.0					5																	154397119		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154397119C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3700C>T	5.37:g.154397119C>T	ENSP00000387875:p.His1234Tyr						p.H1234Y	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3860	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1234			Interaction with PRC1 (By similarity).|Globular (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3700C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	C	6.976	0.550156	0.13374	.	.	ENSG00000226650	ENST00000435029	T	0.69806	-0.43	1.6	0.691	0.18045	.	.	.	.	.	T	0.43678	0.1258	N	0.14661	0.345	0.22424	N	0.999112	B	0.06786	0.001	B	0.04013	0.001	T	0.29150	-1.0021	9	0.49607	T	0.09	.	3.7497	0.08562	0.0:0.751:0.0:0.249	.	1234	Q2VIQ3	KIF4B_HUMAN	Y	1234	ENSP00000387875:H1234Y	ENSP00000387875:H1234Y	H	+	1	0	KIF4B	154377312	0.559000	0.26562	0.034000	0.17996	0.136000	0.21042	0.315000	0.19451	0.230000	0.21059	0.563000	0.77884	CAC		0.478	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			3	1	0	0	0	0.004672	0	3	1				
ADAM19	8728	broad.mit.edu	37	5	156964947	156964947	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:156964947G>T	ENST00000517905.1	-	4	348	c.304C>A	c.(304-306)Cct>Act	p.P102T	ADAM19_ENST00000394020.1_Missense_Mutation_p.P104T|ADAM19_ENST00000257527.4_Missense_Mutation_p.P102T|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	102					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTTTGAGGGTTACCACTT	0.443																																							uc003lwz.2		NA																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(304-306)CCT>ACT		ADAM metallopeptidase domain 19 preproprotein							206.0	192.0	196.0					5																	156964947		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156964947G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.304C>A	5.37:g.156964947G>T	ENSP00000428654:p.Pro102Thr					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.P33T	p.P102T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	368	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	102					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.304C>A		.	.	.	.	.	.	.	.	.	.	G	12.52	1.963661	0.34659	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.05513	3.43;3.43;3.43	5.29	3.49	0.39957	.	0.313375	0.27710	N	0.018166	T	0.06096	0.0158	L	0.39397	1.21	0.26791	N	0.96941	B	0.31548	0.328	B	0.31101	0.124	T	0.31558	-0.9939	10	0.15499	T	0.54	.	12.5179	0.56042	0.0:0.3217:0.6783:0.0	.	102	Q9H013-2	.	T	102;104;102	ENSP00000257527:P102T;ENSP00000377588:P104T;ENSP00000428654:P102T	ENSP00000257527:P102T	P	-	1	0	ADAM19	156897525	0.818000	0.29161	0.801000	0.32222	0.921000	0.55340	0.905000	0.28504	0.714000	0.32081	0.650000	0.86243	CCT		0.443	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		20	14	1	0	3.62473e-10	0.001882	4.41729e-10	20	14				
RNF145	153830	broad.mit.edu	37	5	158596030	158596030	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:158596030C>A	ENST00000424310.2	-	8	1331	c.972G>T	c.(970-972)ctG>ctT	p.L324L	RNF145_ENST00000274542.2_Silent_p.L352L|RNF145_ENST00000520638.1_Silent_p.L338L|RNF145_ENST00000518802.1_Silent_p.L354L|RNF145_ENST00000519865.1_Silent_p.L324L|RNF145_ENST00000521606.2_Silent_p.L341L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	324						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGCACTGCCAGGATTAACA	0.378																																							uc003lxp.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(970-972)CTG>CTT		ring finger protein 145							117.0	120.0	119.0					5																	158596030		2203	4300	6503	SO:0001819	synonymous_variant	153830					integral to membrane	zinc ion binding	g.chr5:158596030C>A	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.972G>T	5.37:g.158596030C>A						RNF145_uc011ddy.1_Silent_p.L338L|RNF145_uc003lxo.1_Silent_p.L352L|RNF145_uc011ddz.1_Silent_p.L341L|RNF145_uc010jiq.1_Silent_p.L354L	p.L324L	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1285	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	324			Helical; (Potential).		B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	c.972G>T	CCDS56390.1																																																																																				0.378	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		34	15	1	0	1.69901e-12	0.005524	2.16747e-12	34	15				
ADRA1B	147	broad.mit.edu	37	5	159344455	159344455	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:159344455C>A	ENST00000306675.3	+	1	666	c.543C>A	c.(541-543)ctC>ctA	p.L181L		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	181					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	TCGGGCCTCTCCTTGGGTGGA	0.602																																							uc003lxt.1		NA																	0				lung(1)	1						c.(541-543)CTC>CTA		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						85.0	81.0	83.0					5																	159344455		2203	4300	6503	SO:0001819	synonymous_variant	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344455C>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.543C>A	5.37:g.159344455C>A							p.L181L	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	716	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	181			Helical; Name=4; (By similarity).		B0LPE1	Silent	SNP	ENST00000306675.3	37	c.543C>A	CCDS4347.1																																																																																				0.602	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			29	6	1	0	7.38237e-10	0.00632	8.91786e-10	29	6				
SLIT3	6586	broad.mit.edu	37	5	168114084	168114084	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:168114084C>T	ENST00000519560.1	-	30	3633	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1072K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1079K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1072	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTCTGTCTCACAGAGCTTC	0.597																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(3214-3216)GAG>AAG		slit homolog 3 precursor							67.0	61.0	63.0					5																	168114084		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168114084C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3214G>A	5.37:g.168114084C>T	ENSP00000430333:p.Glu1072Lys					SLIT3_uc010jjg.2_Missense_Mutation_p.E1079K	p.E1072K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3634	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1072			EGF-like 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3214G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787143	0.70337	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91631	-2.88;-2.88;-2.88	4.45	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	M	0.84585	2.705	0.80722	D	1	B	0.29301	0.241	B	0.32465	0.146	D	0.93257	0.6640	10	0.62326	D	0.03	.	16.4627	0.84069	0.0:1.0:0.0:0.0	.	1072	O75094	SLIT3_HUMAN	K	1072;1079;1072	ENSP00000430333:E1072K;ENSP00000332164:E1079K;ENSP00000384890:E1072K	ENSP00000332164:E1079K	E	-	1	0	SLIT3	168046662	1.000000	0.71417	0.809000	0.32408	0.829000	0.46940	4.874000	0.63064	2.181000	0.69327	0.462000	0.41574	GAG		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		13	5	0	0	0	0.001368	0	13	5				
SLIT3	6586	broad.mit.edu	37	5	168123328	168123328	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:168123328G>A	ENST00000519560.1	-	28	3470	c.3051C>T	c.(3049-3051)aaC>aaT	p.N1017N	SLIT3_ENST00000404867.3_Silent_p.N1017N|SLIT3_ENST00000332966.8_Silent_p.N1024N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1017	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACACACGTAGTTGTTGATCC	0.517																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(3049-3051)AAC>AAT		slit homolog 3 precursor							294.0	245.0	262.0					5																	168123328		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168123328G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3051C>T	5.37:g.168123328G>A						SLIT3_uc010jjg.2_Silent_p.N1024N	p.N1017N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		28	3471	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1017			EGF-like 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3051C>T	CCDS4369.1																																																																																				0.517	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		35	13	0	0	0	0.004878	0	35	13				
SLIT3	6586	broad.mit.edu	37	5	168180966	168180966	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:168180966C>A	ENST00000519560.1	-	17	2151	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y	SLIT3_ENST00000404867.3_Missense_Mutation_p.D578Y|SLIT3_ENST00000332966.8_Missense_Mutation_p.D578Y	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	578					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCTCCATCGAAAGCTCCC	0.532																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(1732-1734)GAT>TAT		slit homolog 3 precursor							39.0	36.0	37.0					5																	168180966		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168180966C>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1732G>T	5.37:g.168180966C>A	ENSP00000430333:p.Asp578Tyr					SLIT3_uc010jjg.2_Missense_Mutation_p.D578Y	p.D578Y	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	2152	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	578			LRR 13.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.1732G>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010671	0.75046	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.58358	0.34;0.34;0.34	5.31	5.31	0.75309	.	0.043178	0.85682	D	0.000000	T	0.69333	0.3099	L	0.53780	1.695	0.80722	D	1	D	0.57899	0.981	D	0.68353	0.957	T	0.71751	-0.4498	10	0.87932	D	0	.	18.98	0.92752	0.0:1.0:0.0:0.0	.	578	O75094	SLIT3_HUMAN	Y	578	ENSP00000430333:D578Y;ENSP00000332164:D578Y;ENSP00000384890:D578Y	ENSP00000332164:D578Y	D	-	1	0	SLIT3	168113544	1.000000	0.71417	0.092000	0.20876	0.514000	0.34195	7.818000	0.86416	2.495000	0.84180	0.655000	0.94253	GAT		0.532	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		8	6	1	0	5.18039e-06	0.00308	5.70876e-06	8	6				
DOCK2	1794	broad.mit.edu	37	5	169145713	169145713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:169145713C>T	ENST00000256935.8	+	22	2265	c.2185C>T	c.(2185-2187)Caa>Taa	p.Q729*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.Q221*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	729					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAGGGGAGCAATGTGAGCC	0.388																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2185-2187)CAA>TAA		dedicator of cytokinesis 2							130.0	110.0	117.0					5																	169145713		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169145713C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2185C>T	5.37:g.169145713C>T	ENSP00000256935:p.Gln729*					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Nonsense_Mutation_p.Q221*	p.Q729*	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	2265	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	729					Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.2185C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	43	10.000044	0.99314	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	.	.	.	5.58	5.58	0.84498	.	0.176004	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6412	0.95758	0.0:1.0:0.0:0.0	.	.	.	.	X	729;221	.	ENSP00000256935:Q729X	Q	+	1	0	DOCK2	169078291	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.882000	0.69714	2.661000	0.90470	0.644000	0.83932	CAA		0.388	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		34	5	0	0	0	0.002445	0	34	5				
DOCK2	1794	broad.mit.edu	37	5	169507216	169507216	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:169507216C>A	ENST00000256935.8	+	50	5296	c.5216C>A	c.(5215-5217)gCg>gAg	p.A1739E	DOCK2_ENST00000540750.1_Missense_Mutation_p.A800E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.A1231E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGAGCATGCGGCCATCCCC	0.557																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5215-5217)GCG>GAG		dedicator of cytokinesis 2							137.0	113.0	121.0					5																	169507216		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507216C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5216C>A	5.37:g.169507216C>A	ENSP00000256935:p.Ala1739Glu					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A1231E|DOCK2_uc003mah.2_Missense_Mutation_p.A295E	p.A1739E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5296	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1739					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5216C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.003528	0.00431	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08282	3.73;3.38;3.11	5.23	-3.28	0.05033	.	2.046590	0.01873	N	0.037376	T	0.03871	0.0109	N	0.14661	0.345	0.09310	N	1	B;B;B	0.32893	0.065;0.389;0.026	B;B;B	0.25506	0.038;0.061;0.038	T	0.32561	-0.9902	10	0.06625	T	0.88	.	6.9851	0.24723	0.0:0.3734:0.2067:0.4199	.	1231;295;1739	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	E	1739;1231;800	ENSP00000256935:A1739E;ENSP00000429283:A1231E;ENSP00000438827:A800E	ENSP00000256935:A1739E	A	+	2	0	DOCK2	169439794	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.748000	0.04818	-0.583000	0.05921	-0.817000	0.03123	GCG		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		40	13	1	0	1.15183e-24	0.009718	1.81848e-24	40	13				
STC2	8614	broad.mit.edu	37	5	172752989	172752989	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:172752989T>A	ENST00000265087.4	-	2	1485	c.176A>T	c.(175-177)aAc>aTc	p.N59I	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	59					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCGCCAGCGTTGACCAAACA	0.443																																							uc003mco.1		NA																	0				skin(2)|ovary(1)	3						c.(175-177)AAC>ATC		stanniocalcin 2 precursor							160.0	170.0	167.0					5																	172752989		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172752989T>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.176A>T	5.37:g.172752989T>A	ENSP00000265087:p.Asn59Ile					STC2_uc003mcn.1_5'UTR	p.N59I	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1486	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	59						Missense_Mutation	SNP	ENST00000265087.4	37	c.176A>T	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.312635|4.312635	0.81358|0.81358	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000265087|ENST00000520648	.|.	.|.	.|.	5.6|5.6	1.97|1.97	0.26223|0.26223	.|.	0.174758|.	0.64402|.	D|.	0.000008|.	T|T	0.56529|0.56529	0.1991|0.1991	L|L	0.51422|0.51422	1.61|1.61	0.42283|0.42283	D|D	0.992101|0.992101	P|.	0.44006|.	0.824|.	P|.	0.48738|.	0.588|.	T|T	0.47935|0.47935	-0.9078|-0.9078	9|5	0.66056|.	D|.	0.02|.	-24.4727|-24.4727	9.0426|9.0426	0.36327|0.36327	0.0:0.2079:0.0:0.7921|0.0:0.2079:0.0:0.7921	.|.	59|.	O76061|.	STC2_HUMAN|.	I|H	59|12	.|.	ENSP00000265087:N59I|.	N|Q	-|-	2|3	0|2	STC2|STC2	172685595|172685595	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	0.878000|0.878000	0.28126|0.28126	0.107000|0.107000	0.17824|0.17824	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.443	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		112	25	0	0	0	0.00361	0	112	25				
STC2	8614	broad.mit.edu	37	5	172755091	172755091	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:172755091C>A	ENST00000265087.4	-	1	1415	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	36					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCTCCTGTCTTGGGGACCC	0.667																																							uc003mco.1		NA																	0				skin(2)|ovary(1)	3						c.(106-108)GAC>TAC		stanniocalcin 2 precursor							100.0	104.0	103.0					5																	172755091		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172755091C>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.106G>T	5.37:g.172755091C>A	ENSP00000265087:p.Asp36Tyr					STC2_uc003mcn.1_5'Flank	p.D36Y	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1416	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	36						Missense_Mutation	SNP	ENST00000265087.4	37	c.106G>T	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794952	0.90453	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.17	5.17	0.71159	.	0.279008	0.42294	D	0.000730	T	0.66157	0.2761	L	0.29908	0.895	0.53688	D	0.999972	D	0.67145	0.996	D	0.65573	0.936	T	0.69580	-0.5107	9	0.87932	D	0	-28.0051	18.4664	0.90757	0.0:1.0:0.0:0.0	.	36	O76061	STC2_HUMAN	Y	36	.	ENSP00000265087:D36Y	D	-	1	0	STC2	172687697	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.701000	0.74624	2.703000	0.92315	0.655000	0.94253	GAC		0.667	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		72	20	1	0	2.32478e-39	0.00361	4.09483e-39	72	20				
CDHR2	54825	broad.mit.edu	37	5	176011191	176011191	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:176011191G>A	ENST00000510636.1	+	18	2333	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	CDHR2_ENST00000506348.1_Splice_Site_p.D687N|CDHR2_ENST00000261944.5_Splice_Site_p.D687N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	687	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGACTGCAGGACATCAATGA	0.537																																							uc003mem.1		NA																	0				ovary(2)	2						c.(2059-2061)GAC>AAC		protocadherin LKC precursor							107.0	89.0	95.0					5																	176011191		2203	4300	6503	SO:0001630	splice_region_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011191G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2059-1G>A	5.37:g.176011191G>A						CDHR2_uc003men.1_Missense_Mutation_p.D687N	p.D687N	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			18	2125	+			687			Extracellular (Potential).|Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2059G>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106140	0.77096	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.70749	-0.51;-0.51;-0.51	5.69	5.69	0.88448	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.88577	0.6474	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91020	0.4856	8	.	.	.	-47.173	18.404	0.90528	0.0:0.0:1.0:0.0	.	687	Q9BYE9	CDHR2_HUMAN	N	687	ENSP00000424565:D687N;ENSP00000261944:D687N;ENSP00000421078:D687N	.	D	+	1	0	CDHR2	175943797	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	7.108000	0.77055	2.692000	0.91855	0.542000	0.68232	GAC		0.537	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	Missense_Mutation	29	11	0	0	0	0.008361	0	29	11				
HK3	3101	broad.mit.edu	37	5	176308945	176308945	+	Splice_Site	SNP	C	C	A	rs141851478	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:176308945C>A	ENST00000292432.5	-	16	2328	c.2237G>T	c.(2236-2238)aGg>aTg	p.R746M		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	746	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCCACACCTCTGCTTGCC	0.637																																							uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(2236-2238)AGG>ATG		hexokinase 3							62.0	65.0	64.0					5																	176308945		2203	4300	6503	SO:0001630	splice_region_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308945C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2237+1G>T	5.37:g.176308945C>A						HK3_uc003mez.2_Missense_Mutation_p.R302M	p.R746M	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2329	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	746			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2237G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197209	0.79015	.	.	ENSG00000160883	ENST00000292432	D	0.98105	-4.72	5.06	5.06	0.68205	Hexokinase, C-terminal (1);	0.099035	0.45361	D	0.000378	D	0.97949	0.9325	L	0.48642	1.525	0.51233	D	0.999917	D	0.71674	0.998	D	0.71414	0.973	D	0.97575	1.0107	9	.	.	.	.	18.5845	0.91183	0.0:1.0:0.0:0.0	.	746	P52790	HXK3_HUMAN	M	746	ENSP00000292432:R746M	.	R	-	2	0	HK3	176241551	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.068000	0.50018	2.782000	0.95742	0.655000	0.94253	AGG		0.637	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Missense_Mutation	49	10	1	0	8.04919e-23	0.00361	1.23647e-22	49	10				
FGFR4	2264	broad.mit.edu	37	5	176520231	176520231	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:176520231C>T	ENST00000292408.4	+	9	1395	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Silent_p.L384L|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	384					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGCTGTGCTCCTGCTGCTGGC	0.706										TSP Lung(9;0.080)																													uc003mfl.2		NA																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1150-1152)CTG>TTG		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						37.0	32.0	33.0					5																	176520231		2203	4298	6501	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520231C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1150C>T	5.37:g.176520231C>T		TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Silent_p.L384L|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	p.L384L	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1317	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	384			Helical; (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.1150C>T	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	6.613	0.481425	0.12581	.	.	ENSG00000160867	ENST00000511076	.	.	.	4.29	3.41	0.39046	.	.	.	.	.	T	0.60457	0.2270	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57159	-0.7859	4	.	.	.	.	10.7014	0.45928	0.5244:0.4756:0.0:0.0	.	.	.	.	L	19	.	.	P	+	2	0	FGFR4	176452837	0.978000	0.34361	0.988000	0.46212	0.544000	0.35116	2.004000	0.40854	1.014000	0.39417	0.561000	0.74099	CCT		0.706	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			34	7	0	0	0	0.002445	0	34	7				
ADAMTS2	9509	broad.mit.edu	37	5	178553074	178553074	+	Missense_Mutation	SNP	C	C	A	rs377397368		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:178553074C>A	ENST00000251582.7	-	18	2776	c.2675G>T	c.(2674-2676)cGt>cTt	p.R892L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	892	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACAGAAGCCACGGTGTACCAT	0.657																																							uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2674-2676)CGT>CTT		ADAM metallopeptidase with thrombospondin type 1							86.0	87.0	87.0					5																	178553074		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178553074C>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2675G>T	5.37:g.178553074C>A	ENSP00000251582:p.Arg892Leu						p.R892L	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	18	2675	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	892			TSP type-1 2.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2675G>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175887	0.38413	.	.	ENSG00000087116	ENST00000251582	T	0.60920	0.15	4.67	3.8	0.43715	.	0.000000	0.46442	D	0.000300	T	0.59252	0.2180	M	0.88842	2.985	0.80722	D	1	P	0.40553	0.721	B	0.36244	0.22	T	0.64689	-0.6348	10	0.62326	D	0.03	.	8.4976	0.33138	0.0:0.8209:0.0:0.1791	.	892	O95450	ATS2_HUMAN	L	892	ENSP00000251582:R892L	ENSP00000251582:R892L	R	-	2	0	ADAMTS2	178485680	0.998000	0.40836	0.773000	0.31616	0.230000	0.25150	3.905000	0.56333	1.083000	0.41159	0.313000	0.20887	CGT		0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		56	17	1	0	2.5401e-28	0.00361	4.17024e-28	56	17				
CANX	821	broad.mit.edu	37	5	179146685	179146685	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:179146685G>C	ENST00000247461.4	+	9	1128	c.928G>C	c.(928-930)Gct>Cct	p.A310P	CANX_ENST00000512607.2_Missense_Mutation_p.A202P|CANX_ENST00000415618.2_Missense_Mutation_p.A345P|CANX_ENST00000452673.2_Missense_Mutation_p.A310P|CANX_ENST00000504734.1_Missense_Mutation_p.A310P	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	310	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	AGATGCCCCTGCTAAGATTCC	0.438																																							uc003mkk.2		NA																	0					0						c.(928-930)GCT>CCT		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						66.0	67.0	67.0					5																	179146685		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179146685G>C	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.928G>C	5.37:g.179146685G>C	ENSP00000247461:p.Ala310Pro					CANX_uc011dgp.1_Missense_Mutation_p.A345P|CANX_uc010jlb.1_Missense_Mutation_p.A246P|CANX_uc003mkl.2_Missense_Mutation_p.A310P|CANX_uc011dgq.1_Missense_Mutation_p.A202P	p.A310P	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1105	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	310			4 X approximate repeats.|P domain (Extended arm) (By similarity).|Lumenal (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.928G>C	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990448	0.54041	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.72	4.83	0.62350	Concanavalin A-like lectin/glucanase (1);Calreticulin/calnexin, P (1);	0.047108	0.85682	D	0.000000	T	0.41719	0.1171	L	0.43152	1.355	0.58432	D	0.999999	B;B;B	0.19331	0.005;0.035;0.001	B;B;B	0.22152	0.011;0.038;0.007	T	0.19745	-1.0296	10	0.22109	T	0.4	-22.8784	15.6554	0.77129	0.0:0.0:0.8577:0.1423	.	345;246;310	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	P	310;345;310;310;246;202;246	ENSP00000424063:A310P;ENSP00000394817:A345P;ENSP00000391646:A310P;ENSP00000247461:A310P;ENSP00000421107:A246P;ENSP00000423588:A202P	ENSP00000247461:A310P	A	+	1	0	CANX	179079291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.979000	0.88103	1.364000	0.46038	0.561000	0.74099	GCT		0.438	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		12	5	0	0	0	0.000978	0	12	5				
DUSP22	56940	broad.mit.edu	37	6	350826	350826	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:350826T>G	ENST00000344450.5	+	8	956	c.513T>G	c.(511-513)gcT>gcG	p.A171A	DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	171					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCACAGCCGCTCCGGGAATTC	0.398																																							uc003msx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(511-513)GCT>GCG		dual specificity phosphatase 22							130.0	123.0	125.0					6																	350826		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:350826T>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.513T>G	6.37:g.350826T>G						DUSP22_uc003msy.1_3'UTR	p.A171A	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	8	952	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	171					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.513T>G	CCDS4468.1																																																																																				0.398	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		19	67	0	0	0	0.00333	0	19	67				
RREB1	6239	broad.mit.edu	37	6	7230981	7230981	+	Silent	SNP	G	G	T	rs139120793	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:7230981G>T	ENST00000349384.6	+	10	2963	c.2649G>T	c.(2647-2649)tcG>tcT	p.S883S	RREB1_ENST00000379933.3_Silent_p.S883S|RREB1_ENST00000379938.2_Silent_p.S883S|RREB1_ENST00000334984.6_Silent_p.S883S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	883					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCATGTCTCGATCAAGTTGG	0.612																																							uc003mxc.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(2647-2649)TCG>TCT		ras responsive element binding protein 1 isoform							41.0	41.0	41.0					6																	7230981		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230981G>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2649G>T	6.37:g.7230981G>T						RREB1_uc003mxb.2_Silent_p.S883S|RREB1_uc010jnx.2_Silent_p.S883S	p.S883S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3039	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	883					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2649G>T	CCDS34336.1																																																																																				0.612	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			15	75	1	0	4.7546e-09	0.004007	5.65871e-09	15	75				
DSP	1832	broad.mit.edu	37	6	7583592	7583592	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:7583592G>A	ENST00000379802.3	+	24	6438	c.6097G>A	c.(6097-6099)Gag>Aag	p.E2033K	DSP_ENST00000418664.2_Missense_Mutation_p.E1434K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2033	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCTTTGGTAGAGGCCAAGAG	0.478																																							uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6097-6099)GAG>AAG		desmoplakin isoform I							49.0	55.0	53.0					6																	7583592		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583592G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6097G>A	6.37:g.7583592G>A	ENSP00000369129:p.Glu2033Lys					DSP_uc003mxq.1_Missense_Mutation_p.E1434K	p.E2033K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6376	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2033			Plectin 1.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6097G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797581	0.90538	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73047	-0.71;-0.71	4.98	4.98	0.66077	.	0.099300	0.43919	D	0.000516	T	0.76849	0.4045	M	0.69823	2.125	0.47905	D	0.999545	D;P	0.69078	0.997;0.476	P;B	0.57204	0.815;0.237	T	0.78537	-0.2166	10	0.52906	T	0.07	.	18.6091	0.91277	0.0:0.0:1.0:0.0	.	1481;2033	Q4LE79;P15924	.;DESP_HUMAN	K	2033;1434	ENSP00000369129:E2033K;ENSP00000396591:E1434K	ENSP00000369129:E2033K	E	+	1	0	DSP	7528591	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.933000	0.87642	2.459000	0.83118	0.655000	0.94253	GAG		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		72	40	0	0	0	0.00361	0	72	40				
GCNT2	2651	broad.mit.edu	37	6	10529945	10529945	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:10529945G>T	ENST00000379597.3	+	1	1357	c.801G>T	c.(799-801)gtG>gtT	p.V267V	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.V267V			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	267					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CGGCCTACGTGGCTCTCACAA	0.453																																							uc010joo.2		NA																	0				ovary(2)	2						c.(799-801)GTG>GTT		glucosaminyl (N-acetyl) transferase 2,							137.0	129.0	131.0					6																	10529945		2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529945G>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.801G>T	6.37:g.10529945G>T						GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.V266V|GCNT2_uc010jon.2_Silent_p.V266V	p.V267V	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	1352	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	267			Lumenal (Potential).			Silent	SNP	ENST00000379597.3	37	c.801G>T	CCDS34338.1																																																																																				0.453	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		30	131	1	0	1.75199e-13	0.007291	2.26948e-13	30	131				
DEK	7913	broad.mit.edu	37	6	18250037	18250037	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:18250037C>A	ENST00000397239.3	-	7	1054	c.607G>T	c.(607-609)Ggc>Tgc	p.G203C	DEK_ENST00000244776.7_Missense_Mutation_p.G169C	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	203					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTTTTACTGCCTTTGCTACAA	0.348			T	NUP214	AML																																		uc003ncr.1		NA		Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				kidney(1)	1						c.(607-609)GGC>TGC		DEK oncogene isoform 1							102.0	95.0	98.0					6																	18250037		2202	4300	6502	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18250037C>A	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.607G>T	6.37:g.18250037C>A	ENSP00000380414:p.Gly203Cys					DEK_uc011djf.1_Missense_Mutation_p.G169C|DEK_uc011djg.1_RNA	p.G203C	NM_003472	NP_003463	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		7	800	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	203					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.607G>T	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511213	0.85389	.	.	ENSG00000124795	ENST00000397239;ENST00000244776	T;T	0.50813	0.73;0.75	6.08	6.08	0.98989	.	0.252901	0.39544	N	0.001321	T	0.63522	0.2518	M	0.62723	1.935	0.47094	D	0.999316	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.61992	-0.6948	10	0.62326	D	0.03	-8.0051	20.6721	0.99693	0.0:1.0:0.0:0.0	.	169;203	B4DN37;P35659	.;DEK_HUMAN	C	203;169	ENSP00000380414:G203C;ENSP00000244776:G169C	ENSP00000244776:G169C	G	-	1	0	DEK	18358016	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.761000	0.55242	2.894000	0.99253	0.591000	0.81541	GGC		0.348	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			20	28	1	0	8.00594e-06	0.007413	8.79744e-06	20	28				
ID4	3400	broad.mit.edu	37	6	19838366	19838366	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:19838366G>T	ENST00000378700.3	+	1	750	c.381G>T	c.(379-381)ccG>ccT	p.P127P	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	127					cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CACACCACCCGGCCGGGACCT	0.761																																					Esophageal Squamous(13;105 518 19978 28644 46870)	Esophageal Squamous(13;105 518 19978 28644 46870)	uc003ncw.2		NA																	0					0						c.(379-381)CCG>CCT		inhibitor of DNA binding 4, dominant negative							6.0	8.0	8.0					6																	19838366		1943	3922	5865	SO:0001819	synonymous_variant	3400						transcription corepressor activity	g.chr6:19838366G>T	U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"""Basic helix-loop-helix proteins"""	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.381G>T	6.37:g.19838366G>T							p.P127P	NM_001546	NP_001537	P47928	ID4_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)		1	750	+	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		127					Q13005	Silent	SNP	ENST00000378700.3	37	c.381G>T	CCDS4544.1																																																																																				0.761	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039979.1	NM_001546		14	20	1	0	3.27435e-08	0.00245	3.81942e-08	14	20				
NRSN1	140767	broad.mit.edu	37	6	24134624	24134624	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:24134624C>A	ENST00000378491.4	+	3	370	c.69C>A	c.(67-69)cgC>cgA	p.R23R	NRSN1_ENST00000378475.1_Silent_p.R23R|NRSN1_ENST00000378478.1_Silent_p.R23R	NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GTTACCAGCGCTATGGAGTCC	0.522																																							uc010jpq.1		NA																	0					0						c.(67-69)CGC>CGA		neurensin 1							138.0	124.0	129.0					6																	24134624		2203	4300	6503	SO:0001819	synonymous_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24134624C>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.69C>A	6.37:g.24134624C>A							p.R23R	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			3	306	+			23						Silent	SNP	ENST00000378491.4	37	c.69C>A	CCDS4549.1																																																																																				0.522	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		11	62	1	0	0.000978159	0.000978	0.00102147	11	62				
FAM65B	9750	broad.mit.edu	37	6	24865573	24865573	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:24865573C>G	ENST00000259698.4	-	7	695	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	FAM65B_ENST00000540914.1_Missense_Mutation_p.E174Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E174Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E203Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E208Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	174					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GTCAGACTCTCCCGGGCAGCT	0.512																																							uc003neo.1		NA																	0				ovary(1)	1						c.(520-522)GAG>CAG		hypothetical protein LOC9750 isoform 1							84.0	83.0	83.0					6																	24865573		1922	4132	6054	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24865573C>G	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.520G>C	6.37:g.24865573C>G	ENSP00000259698:p.Glu174Gln					FAM65B_uc011djs.1_Missense_Mutation_p.E203Q|FAM65B_uc011dju.1_Missense_Mutation_p.E208Q|FAM65B_uc003nep.2_Missense_Mutation_p.E174Q|FAM65B_uc011djt.1_Missense_Mutation_p.E174Q	p.E174Q	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			7	696	-			174					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.520G>C	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911347	0.92178	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.01386	-1.1368	10	0.62326	D	0.03	-28.148	19.5966	0.95541	0.0:1.0:0.0:0.0	.	208;203;174;174	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	Q	174;203;174;174;208	ENSP00000259698:E174Q;ENSP00000441138:E203Q;ENSP00000367262:E174Q;ENSP00000438425:E174Q;ENSP00000441305:E208Q	ENSP00000259698:E174Q	E	-	1	0	FAM65B	24973552	1.000000	0.71417	0.997000	0.53966	0.867000	0.49689	5.585000	0.67497	2.622000	0.88805	0.561000	0.74099	GAG		0.512	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			40	75	0	0	0	0.007835	0	40	75				
LRRC16A	55604	broad.mit.edu	37	6	25450173	25450173	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:25450173G>T	ENST00000329474.6	+	6	787	c.419G>T	c.(418-420)aGt>aTt	p.S140I	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	140					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CGCCTGGCTAGTCTCCAGGCG	0.493																																							uc011djw.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(418-420)AGT>ATT		leucine rich repeat containing 16A							43.0	45.0	44.0					6																	25450173		1850	4081	5931	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450173G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.419G>T	6.37:g.25450173G>T	ENSP00000331983:p.Ser140Ile					LRRC16A_uc010jpx.2_Missense_Mutation_p.S140I|LRRC16A_uc010jpy.2_Missense_Mutation_p.S140I|LRRC16A_uc003nez.1_5'Flank	p.S140I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			6	795	+			140					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.419G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985888	0.35036	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.16196	2.36	5.55	3.74	0.42951	.	0.481828	0.24431	N	0.038583	T	0.03915	0.0110	N	0.14661	0.345	0.80722	D	1	P;P;P	0.42757	0.549;0.49;0.789	B;B;B	0.40477	0.177;0.177;0.33	T	0.36286	-0.9754	10	0.35671	T	0.21	.	6.6984	0.23211	0.3499:0.0:0.6501:0.0	.	140;140;140	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	I	140	ENSP00000331983:S140I	ENSP00000331983:S140I	S	+	2	0	LRRC16A	25558152	0.993000	0.37304	0.997000	0.53966	0.998000	0.95712	1.245000	0.32790	1.483000	0.48342	0.655000	0.94253	AGT		0.493	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		29	28	1	0	4.39465e-27	0.002836	7.12426e-27	29	28				
SLC17A3	10786	broad.mit.edu	37	6	25862500	25862500	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:25862500A>T	ENST00000360657.3	-	3	549	c.264T>A	c.(262-264)ttT>ttA	p.F88L	SLC17A3_ENST00000397060.4_Missense_Mutation_p.F88L|SLC17A3_ENST00000361703.6_Missense_Mutation_p.F88L			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	88					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTAGGCCACCAAATGAGTCAA	0.413																																							uc003nfi.3		NA																	0					0						c.(262-264)TTT>TTA		solute carrier family 17 (sodium phosphate),							125.0	104.0	111.0					6																	25862500		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862500A>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.264T>A	6.37:g.25862500A>T	ENSP00000353873:p.Phe88Leu					SLC17A3_uc003nfk.3_Missense_Mutation_p.F88L|SLC17A3_uc011djz.1_Missense_Mutation_p.F88L|SLC17A3_uc011dka.1_Missense_Mutation_p.F88L	p.F88L	NM_006632	NP_006623	O00476	NPT4_HUMAN			3	374	-			88					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.264T>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	A	9.456	1.091866	0.20471	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.62788	-0.0;0.15;0.15	4.14	0.918	0.19386	.	1.863000	0.03398	N	0.202954	T	0.22360	0.0539	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.11329	0.0;0.006;0.006;0.0	T	0.08764	-1.0706	10	0.02654	T	1	.	5.9923	0.19474	0.6605:0.0:0.3395:0.0	.	88;69;88;88	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	L	88	ENSP00000380250:F88L;ENSP00000353873:F88L;ENSP00000355307:F88L	ENSP00000353873:F88L	F	-	3	2	SLC17A3	25970479	0.000000	0.05858	0.001000	0.08648	0.156000	0.22039	-0.771000	0.04699	0.030000	0.15379	0.455000	0.32223	TTT		0.413	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			23	55	0	0	0	0.00333	0	23	55				
HIST1H2AD	3013	broad.mit.edu	37	6	26199333	26199333	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:26199333C>A	ENST00000341023.1	-	1	138	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	47						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				ACTGGCGCGCCGGCCCCGACT	0.667																																							uc003ngw.2		NA																	0					0						c.(139-141)GGC>TGC		histone cluster 1, H2ad							29.0	35.0	33.0					6																	26199333		2202	4298	6500	SO:0001583	missense	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199333C>A	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.139G>T	6.37:g.26199333C>A	ENSP00000341094:p.Gly47Cys					HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	p.G47C	NM_021065	NP_066409	P20671	H2A1D_HUMAN			1	139	-		all_hematologic(11;0.196)	47					A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	ENST00000341023.1	37	c.139G>T	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	14.32	2.500104	0.44455	.	.	ENSG00000196866	ENST00000341023	T	0.45276	0.9	4.82	4.82	0.62117	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44097	U	0.000497	T	0.76442	0.3988	H	0.98980	4.39	0.47949	D	0.999552	D	0.89917	1.0	D	0.97110	1.0	D	0.86906	0.2057	10	0.87932	D	0	.	17.2301	0.86982	0.0:1.0:0.0:0.0	.	47	P20671	H2A1D_HUMAN	C	47	ENSP00000341094:G47C	ENSP00000341094:G47C	G	-	1	0	HIST1H2AD	26307312	1.000000	0.71417	0.879000	0.34478	0.016000	0.09150	7.592000	0.82676	2.373000	0.80994	0.655000	0.94253	GGC		0.667	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		45	75	1	0	4.18559e-23	0.00361	6.45014e-23	45	75				
ZNF165	7718	broad.mit.edu	37	6	28053315	28053315	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:28053315T>A	ENST00000377325.1	+	2	613	c.57T>A	c.(55-57)ctT>ctA	p.L19L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	19					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGAAGGACTTCTGATAGTGA	0.438																																							uc003nkg.2		NA																	0					0						c.(55-57)CTT>CTA		zinc finger protein 165							133.0	147.0	142.0					6																	28053315		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053315T>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.57T>A	6.37:g.28053315T>A						ZNF165_uc003nkh.2_Silent_p.L19L|ZNF165_uc003nki.3_Silent_p.L19L	p.L19L	NM_003447	NP_003438	P49910	ZN165_HUMAN			3	1141	+			19						Silent	SNP	ENST00000377325.1	37	c.57T>A	CCDS4643.1																																																																																				0.438	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		188	83	0	0	0	0.00361	0	188	83				
PGBD1	84547	broad.mit.edu	37	6	28269009	28269009	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:28269009G>T	ENST00000405948.2	+	7	1798	c.1378G>T	c.(1378-1380)Gtg>Ttg	p.V460L	PGBD1_ENST00000259883.3_Missense_Mutation_p.V460L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	460						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AATGAGGTGTGTGTTTGGTGT	0.378																																							uc003nky.2		NA																	0				ovary(4)	4						c.(1378-1380)GTG>TTG		piggyBac transposable element derived 1							175.0	174.0	175.0					6																	28269009		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269009G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1378G>T	6.37:g.28269009G>T	ENSP00000385213:p.Val460Leu					PGBD1_uc003nkz.2_Missense_Mutation_p.V460L	p.V460L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	1748	+			460					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1378G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470281	0.43942	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.15952	2.38;2.38	4.66	3.79	0.43588	.	0.186779	0.26314	N	0.025099	T	0.09247	0.0228	L	0.56769	1.78	0.31423	N	0.674125	B	0.29766	0.256	B	0.35859	0.212	T	0.07597	-1.0764	10	0.54805	T	0.06	-7.6614	8.6584	0.34077	0.1033:0.0:0.8967:0.0	.	460	Q96JS3	PGBD1_HUMAN	L	460	ENSP00000385213:V460L;ENSP00000259883:V460L	ENSP00000259883:V460L	V	+	1	0	PGBD1	28376988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.660000	0.37397	1.324000	0.45282	0.655000	0.94253	GTG		0.378	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			27	102	1	0	1.26454e-06	0.005443	1.41775e-06	27	102				
ZBED9	114821	broad.mit.edu	37	6	28541454	28541454	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:28541454C>T	ENST00000452236.2	-	4	2829	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tatgaaggatcatatttccga	0.333																																							uc003nlo.2		NA																	0				ovary(1)	1						c.(2212-2214)GAT>AAT		SCAN domain containing 3							81.0	73.0	76.0					6																	28541454		2202	4300	6502	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541454C>T																												ENST00000452236.2:c.2212G>A	6.37:g.28541454C>T	ENSP00000395259:p.Asp738Asn						p.D738N	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	2830	-			738						Missense_Mutation	SNP	ENST00000452236.2	37	c.2212G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490852	0.44249	.	.	ENSG00000232040	ENST00000452236	T	0.01464	4.86	2.14	2.14	0.27477	.	.	.	.	.	T	0.01592	0.0051	L	0.28192	0.835	0.26327	N	0.977585	D	0.57571	0.98	D	0.72338	0.977	T	0.56745	-0.7928	9	0.33940	T	0.23	.	7.8595	0.29501	0.0:1.0:0.0:0.0	.	738	Q6R2W3	SCND3_HUMAN	N	738	ENSP00000395259:D738N	ENSP00000395259:D738N	D	-	1	0	SCAND3	28649433	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.736000	0.26130	1.508000	0.48769	0.563000	0.77884	GAT		0.333	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			11	38	0	0	0	0.000978	0	11	38				
OR2J2	26707	broad.mit.edu	37	6	29141996	29141996	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:29141996C>A	ENST00000377167.2	+	1	686	c.584C>A	c.(583-585)gCa>gAa	p.A195E		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GACACCCATGCAAATGAGCTG	0.478																																							uc011dlm.1		NA																	0					0						c.(583-585)GCA>GAA		olfactory receptor, family 2, subfamily J,							157.0	136.0	143.0					6																	29141996		1949	4162	6111	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141996C>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.584C>A	6.37:g.29141996C>A	ENSP00000366372:p.Ala195Glu						p.A195E	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	686	+			195			Extracellular (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.584C>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	1.101	-0.661211	0.03454	.	.	ENSG00000204700	ENST00000377167	T	0.00107	8.72	2.3	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.43923	1.385	0.09310	N	1	P	0.42620	0.785	P	0.49528	0.614	T	0.00354	-1.1794	9	0.31617	T	0.26	.	2.8613	0.05588	0.3739:0.4566:0.0:0.1695	.	195	O76002	OR2J2_HUMAN	E	195	ENSP00000366372:A195E	ENSP00000366372:A195E	A	+	2	0	OR2J2	29249975	0.000000	0.05858	0.301000	0.25044	0.372000	0.29890	-2.192000	0.01245	1.265000	0.44215	0.205000	0.17691	GCA		0.478	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			130	71	1	0	8.54645e-47	0.00361	1.54043e-46	130	71				
LTB	4050	broad.mit.edu	37	6	31548635	31548635	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:31548635C>A	ENST00000429299.2	-	4	593	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	196					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						GGCCCGTACCCTTGTCTCCTG	0.692																																							uc003nuk.2		NA																	0					0						c.(586-588)GGG>TGG		lymphotoxin-beta isoform a	Infliximab(DB00065)|Simvastatin(DB00641)						24.0	18.0	20.0					6																	31548635		1511	2709	4220	SO:0001583	missense	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548635C>A	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.586G>T	6.37:g.31548635C>A	ENSP00000410481:p.Gly196Trp					LTB_uc003nul.2_3'UTR	p.G196W	NM_002341	NP_002332	Q06643	TNFC_HUMAN			4	594	-			196			Extracellular (Potential).		P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	c.586G>T	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101285	0.56183	.	.	ENSG00000227507	ENST00000429299	T	0.23754	1.89	4.26	3.37	0.38596	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.085290	0.07048	N	0.831429	T	0.25005	0.0607	L	0.60455	1.87	0.22253	N	0.999255	D	0.56287	0.975	P	0.54590	0.756	T	0.17018	-1.0383	10	0.87932	D	0	-2.2464	9.8215	0.40885	0.0:0.7908:0.2092:0.0	.	196	Q06643	TNFC_HUMAN	W	196	ENSP00000410481:G196W	ENSP00000410481:G196W	G	-	1	0	LTB	31656614	0.001000	0.12720	0.001000	0.08648	0.837000	0.47467	1.293000	0.33353	0.952000	0.37798	0.655000	0.94253	GGG		0.692	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			9	36	1	0	3.09899e-07	0.004482	3.5297e-07	9	36				
VARS	7407	broad.mit.edu	37	6	31749678	31749678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:31749678C>A	ENST00000375663.3	-	19	2733	c.2293G>T	c.(2293-2295)Gag>Tag	p.E765*	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	765					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTGCCTTCTCCCGGGCCTCC	0.627																																							uc003nxe.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2293-2295)GAG>TAG		valyl-tRNA synthetase	L-Valine(DB00161)						182.0	203.0	196.0					6																	31749678		1511	2709	4220	SO:0001587	stop_gained	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749678C>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2293G>T	6.37:g.31749678C>A	ENSP00000364815:p.Glu765*					VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	p.E765*	NM_006295	NP_006286	P26640	SYVC_HUMAN			19	2716	-			765					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Nonsense_Mutation	SNP	ENST00000375663.3	37	c.2293G>T	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.387922|5.387922	0.95988|0.95988	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.096084|.	0.64402|.	D|.	0.000001|.	.|T	.|0.67011	.|0.2848	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65446	.|-0.6166	.|4	0.30854|.	T|.	0.27|.	-23.1166|-23.1166	16.9247|16.9247	0.86173|0.86173	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	765|82	.|.	ENSP00000364815:E765X|.	E|G	-|-	1|2	0|0	VARS|VARS	31857657|31857657	0.994000|0.994000	0.37717|0.37717	0.894000|0.894000	0.35097|0.35097	0.710000|0.710000	0.40934|0.40934	3.359000|3.359000	0.52292|0.52292	2.595000|2.595000	0.87683|0.87683	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		186	102	1	0	5.28991e-74	0.00361	9.90386e-74	186	102				
NOTCH4	4855	broad.mit.edu	37	6	32168997	32168997	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32168997G>T	ENST00000375023.3	-	22	4174	c.4036C>A	c.(4036-4038)Cgg>Agg	p.R1346R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1346			R -> P (in dbSNP:rs8192573).		cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTTCAGCCCGGGCCCCAGGA	0.622																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4036-4038)CGG>AGG		notch4 preproprotein							58.0	66.0	63.0					6																	32168997		1508	2707	4215	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32168997G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4036C>A	6.37:g.32168997G>T						NOTCH4_uc003oba.2_Silent_p.R9R|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.R1346R	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			22	4175	-			1346			Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.4036C>A	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			44	55	1	0	9.9998e-32	0.002852	1.68757e-31	44	55				
NOTCH4	4855	broad.mit.edu	37	6	32188025	32188025	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32188025T>A	ENST00000375023.3	-	7	1334	c.1196A>T	c.(1195-1197)cAg>cTg	p.Q399L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	399	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATGGCACGGCTGGCTCAGACA	0.617																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(1195-1197)CAG>CTG		notch4 preproprotein							69.0	70.0	69.0					6																	32188025		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188025T>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1196A>T	6.37:g.32188025T>A	ENSP00000364163:p.Gln399Leu					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.Q399L	p.Q399L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			7	1335	-			399			EGF-like 10.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1196A>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453682	0.63290	.	.	ENSG00000204301	ENST00000375023	D	0.86956	-2.19	4.16	4.16	0.48862	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38381	N	0.001706	D	0.84529	0.5492	L	0.27053	0.805	0.80722	D	1	D;B	0.67145	0.996;0.305	D;B	0.83275	0.996;0.018	D	0.85576	0.1237	10	0.44086	T	0.13	.	11.1945	0.48704	0.0:0.0:0.0:1.0	.	399;399	Q6P3V5;Q99466	.;NOTC4_HUMAN	L	399	ENSP00000364163:Q399L	ENSP00000364163:Q399L	Q	-	2	0	NOTCH4	32296003	1.000000	0.71417	0.999000	0.59377	0.474000	0.32979	3.802000	0.55553	1.732000	0.51606	0.254000	0.18369	CAG		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			22	74	0	0	0	0.001882	0	22	74				
C6orf10	10665	broad.mit.edu	37	6	32261590	32261590	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32261590T>A	ENST00000447241.2	-	23	1032	c.860A>T	c.(859-861)aAa>aTa	p.K287I	C6orf10_ENST00000533191.1_Missense_Mutation_p.K285I|C6orf10_ENST00000375015.4_Missense_Mutation_p.K286I|C6orf10_ENST00000527965.1_Missense_Mutation_p.K271I|C6orf10_ENST00000375007.4_Missense_Mutation_p.K285I|C6orf10_ENST00000442822.2_Missense_Mutation_p.K278I	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	287						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CATTCCTATTTTGTCTTTCTC	0.393																																							uc011dpy.1		NA																	0				skin(1)	1						c.(859-861)AAA>ATA		chromosome 6 open reading frame 10							261.0	267.0	265.0					6																	32261590		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32261590T>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.860A>T	6.37:g.32261590T>A	ENSP00000415517:p.Lys287Ile					C6orf10_uc011dpx.1_Missense_Mutation_p.K69I	p.K287I	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1033	-			287					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.860A>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650406	0.47362	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.05382	3.48;3.49;3.45;3.46;3.47;3.46	3.57	-0.374	0.12512	.	.	.	.	.	T	0.06325	0.0163	L	0.58101	1.795	0.09310	N	1	D;D	0.76494	0.982;0.999	P;D	0.83275	0.772;0.996	T	0.23619	-1.0183	9	0.72032	D	0.01	-1.3572	0.42	0.00455	0.1801:0.2154:0.1854:0.4192	.	287;278	Q5SRN2;C9J9T8	CF010_HUMAN;.	I	278;287;286;285;271;285;286;284	ENSP00000411164:K278I;ENSP00000415517:K287I;ENSP00000364155:K286I;ENSP00000431199:K285I;ENSP00000435103:K271I;ENSP00000364146:K285I	ENSP00000303292:K284I	K	-	2	0	C6orf10	32369568	0.003000	0.15002	0.000000	0.03702	0.101000	0.19017	0.521000	0.22893	-0.054000	0.13266	0.455000	0.32223	AAA		0.393	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		243	103	0	0	0	0.00361	0	243	103				
BTNL2	56244	broad.mit.edu	37	6	32370752	32370752	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:32370752G>A	ENST00000374993.1	-	3	668	c.669C>T	c.(667-669)ccC>ccT	p.P223P	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000454136.3_Silent_p.P223P|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	223	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CAGTGAGGACGGGGTTGTGGA	0.587																																							uc003obg.1		NA																	0				central_nervous_system(1)	1						c.(667-669)CCC>CCT		butyrophilin-like 2							75.0	62.0	67.0					6																	32370752		1511	2708	4219	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32370752G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.669C>T	6.37:g.32370752G>A						BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	p.P223P	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			3	669	-			223			Ig-like V-type 2.|Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.669C>T																																																																																					0.587	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		4	35	0	0	0	0.009096	0	4	35				
COL11A2	1302	broad.mit.edu	37	6	33145200	33145200	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:33145200G>T	ENST00000374708.4	-	21	1960	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	COL11A2_ENST00000395197.1_Missense_Mutation_p.P594T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P628T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P633T|COL11A2_ENST00000341947.2_Missense_Mutation_p.P654T|COL11A2_ENST00000374713.1_Missense_Mutation_p.P607T|COL11A2_ENST00000361917.1_Missense_Mutation_p.P547T|COL11A2_ENST00000374712.1_Missense_Mutation_p.P573T|COL11A2_ENST00000477772.1_5'UTR	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	654	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGGTCCCAGGGGTGCCCTGT	0.557																																					Melanoma(1;90 116 3946 5341 17093)	Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(1960-1962)CCT>ACT		collagen, type XI, alpha 2 isoform 1							40.0	41.0	41.0					6																	33145200		1508	2709	4217	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33145200G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1702C>A	6.37:g.33145200G>T	ENSP00000363840:p.Pro568Thr					COL11A2_uc010jul.1_Silent_p.P33P|COL11A2_uc003ocy.1_Missense_Mutation_p.P568T|COL11A2_uc003ocz.1_Missense_Mutation_p.P547T	p.P654T	NM_080680	NP_542411	P13942	COBA2_HUMAN			23	2188	-			654			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1960C>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970335	0.74246	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	L	0.49126	1.545	0.80722	D	1	P;P;D	0.71674	0.733;0.725;0.998	P;B;D	0.69654	0.674;0.439;0.965	D	0.95809	0.8840	10	0.45353	T	0.12	.	13.8013	0.63202	0.0:0.0:1.0:0.0	.	547;568;654	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	T	568;654;633;628;607;594;573;547	ENSP00000363840:P568T;ENSP00000339915:P654T;ENSP00000350079:P633T;ENSP00000363846:P628T;ENSP00000363845:P607T;ENSP00000378623:P594T;ENSP00000363844:P573T;ENSP00000355123:P547T	ENSP00000339915:P654T	P	-	1	0	COL11A2	33253178	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.751000	0.74893	2.113000	0.64589	0.579000	0.79373	CCT		0.557	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			15	36	1	0	1.67942e-08	0.006122	1.97446e-08	15	36				
COL11A2	1302	broad.mit.edu	37	6	33157167	33157167	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:33157167A>G	ENST00000374708.4	-	2	420	c.162T>C	c.(160-162)tgT>tgC	p.C54C	COL11A2_ENST00000395197.1_Silent_p.C54C|COL11A2_ENST00000374714.1_Silent_p.C54C|COL11A2_ENST00000357486.1_Silent_p.C54C|COL11A2_ENST00000341947.2_Silent_p.C54C|COL11A2_ENST00000374713.1_Silent_p.C54C|COL11A2_ENST00000361917.1_Silent_p.C54C|COL11A2_ENST00000374712.1_Silent_p.C54C|COL11A2_ENST00000395194.1_Silent_p.C54C	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	54					cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CATCAGCTGGACAGATGCCTT	0.627																																					Melanoma(1;90 116 3946 5341 17093)	Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(160-162)TGT>TGC		collagen, type XI, alpha 2 isoform 1							80.0	68.0	72.0					6																	33157167		1511	2709	4220	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33157167A>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.162T>C	6.37:g.33157167A>G						COL11A2_uc003ocy.1_Silent_p.C54C|COL11A2_uc003ocz.1_Silent_p.C54C|COL11A2_uc003oda.2_Silent_p.C54C	p.C54C	NM_080680	NP_542411	P13942	COBA2_HUMAN			2	390	-			54			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.162T>C	CCDS43452.1																																																																																				0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			49	21	0	0	0	0.00361	0	49	21				
CLPS	1208	broad.mit.edu	37	6	35765033	35765033	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:35765033G>T	ENST00000259938.2	-	1	55	c.33C>A	c.(31-33)gcC>gcA	p.A11A		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	11					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(2)|prostate(1)	5						CCACAGAGAGGGCGACAAGCA	0.597																																					Melanoma(167;2962 3494 37796)	Melanoma(167;2962 3494 37796)	uc003ole.1		NA																	0					0						c.(31-33)GCC>GCA		colipase preproprotein							120.0	107.0	111.0					6																	35765033		2203	4300	6503	SO:0001819	synonymous_variant	1208				lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region		g.chr6:35765033G>T		CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.33C>A	6.37:g.35765033G>T						CLPS_uc003olf.1_Silent_p.A11A	p.A11A	NM_001832	NP_001823	P04118	COL_HUMAN			1	70	-			11					Q5T9G7|Q5U809	Silent	SNP	ENST00000259938.2	37	c.33C>A	CCDS4811.1																																																																																				0.597	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040312.1	NM_001832		15	126	1	0	3.52763e-06	0.00499	3.90747e-06	15	126				
PXT1	222659	broad.mit.edu	37	6	36359620	36359620	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:36359620T>C	ENST00000454782.2	-	5	815	c.332A>G	c.(331-333)gAt>gGt	p.D111G	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	111					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											GACAAAATGATCTAGTGCATC	0.343																																							uc003omd.1		NA																	0					0						c.(82-84)GAT>GGT		peroxisomal, testis specific 1							101.0	104.0	103.0					6																	36359620		2203	4300	6503	SO:0001583	missense	222659					peroxisome		g.chr6:36359620T>C	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.332A>G	6.37:g.36359620T>C	ENSP00000419944:p.Asp111Gly						p.D28G	NM_152990	NP_694535	Q8NFP0	PXT1_HUMAN			2	113	-			28					J3KR74	Missense_Mutation	SNP	ENST00000454782.2	37	c.83A>G	CCDS4820.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.450|7.450	0.642517|0.642517	0.14451|0.14451	.|.	.|.	ENSG00000179165|ENSG00000179165	ENST00000454782;ENST00000538109|ENST00000459696	.|.	.|.	.|.	4.84|4.84	0.956|0.956	0.19608|0.19608	.|.	0.636487|.	0.13014|.	N|.	0.420657|.	T|T	0.09335|0.09335	0.0230|0.0230	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	B|.	0.15473|.	0.013|.	B|.	0.16289|.	0.015|.	T|T	0.34378|0.34378	-0.9831|-0.9831	8|4	0.19147|.	T|.	0.46|.	0.1142|0.1142	3.8542|3.8542	0.08968|0.08968	0.2788:0.0:0.5466:0.1746|0.2788:0.0:0.5466:0.1746	.|.	28|.	Q8NFP0|.	PXT1_HUMAN|.	G|V	111;28|35	.|.	ENSP00000419944:D111G|.	D|I	-|-	2|1	0|0	PXT1|PXT1	36467598|36467598	0.988000|0.988000	0.35896|0.35896	0.114000|0.114000	0.21550|0.21550	0.002000|0.002000	0.02628|0.02628	0.699000|0.699000	0.25586|0.25586	0.044000|0.044000	0.15775|0.15775	-0.213000|-0.213000	0.12676|0.12676	GAT|ATC		0.343	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	NM_152990		26	90	0	0	0	0.002096	0	26	90				
BTBD9	114781	broad.mit.edu	37	6	38545399	38545399	+	Missense_Mutation	SNP	T	T	A	rs377395998		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:38545399T>A	ENST00000481247.1	-	6	1282	c.1131A>T	c.(1129-1131)ttA>ttT	p.L377F	BTBD9_ENST00000314100.6_Missense_Mutation_p.L309F|BTBD9_ENST00000408958.1_Missense_Mutation_p.L309F|BTBD9_ENST00000403056.1_Missense_Mutation_p.L377F|BTBD9_ENST00000419706.2_Missense_Mutation_p.L318F	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	377					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						CTGGAAAATATAATTTCTGCC	0.363																																							uc003ooa.3		NA																	0					0						c.(1129-1131)TTA>TTT		BTB (POZ) domain containing 9 isoform a							102.0	98.0	99.0					6																	38545399		1867	4096	5963	SO:0001583	missense	114781				cell adhesion			g.chr6:38545399T>A		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.1131A>T	6.37:g.38545399T>A	ENSP00000418751:p.Leu377Phe					BTBD9_uc003ony.3_Missense_Mutation_p.L309F|BTBD9_uc010jwv.2_Missense_Mutation_p.L309F|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.L377F	p.L377F	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN			7	1707	-			377					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.1131A>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054862	0.75960	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98345	-4.88;-4.88;-1.19;-4.88;-4.88	5.71	-4.55	0.03441	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	D	0.97356	0.9135	L	0.51853	1.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.986;0.996	D	0.95780	0.8816	10	0.87932	D	0	.	13.7295	0.62779	0.0957:0.6953:0.0:0.209	.	318;377	Q494V9;Q96Q07	.;BTBD9_HUMAN	F	309;377;318;377;309	ENSP00000323408:L309F;ENSP00000418751:L377F;ENSP00000415365:L318F;ENSP00000386121:L377F;ENSP00000386211:L309F	ENSP00000323408:L309F	L	-	3	2	BTBD9	38653377	0.001000	0.12720	0.921000	0.36526	0.996000	0.88848	-1.673000	0.01951	-0.726000	0.04895	0.528000	0.53228	TTA		0.363	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		56	40	0	0	0	0.00361	0	56	40				
DNAH8	1769	broad.mit.edu	37	6	38738285	38738285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:38738285G>T	ENST00000359357.3	+	10	1317	c.1063G>T	c.(1063-1065)Gaa>Taa	p.E355*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E355*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E572*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	355					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGGTTTCAGAAATGTATAT	0.363																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(1063-1065)GAA>TAA		dynein, axonemal, heavy polypeptide 8							39.0	40.0	40.0					6																	38738285		2203	4299	6502	SO:0001587	stop_gained	1769							g.chr6:38738285G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1063G>T	6.37:g.38738285G>T	ENSP00000352312:p.Glu355*						p.E355*	NM_001371	NP_001362					10	1663	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.1063G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.811099	0.98962	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.4237	0.87521	0.0:0.0:1.0:0.0	.	.	.	.	X	560;560;355;355	.	ENSP00000333363:E560X	E	+	1	0	DNAH8	38846263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.481000	0.81124	2.726000	0.93360	0.643000	0.83706	GAA		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		17	31	1	0	2.23348e-06	0.004007	2.47965e-06	17	31				
DNAH8	1769	broad.mit.edu	37	6	38891824	38891824	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:38891824T>A	ENST00000359357.3	+	71	10451	c.10197T>A	c.(10195-10197)aaT>aaA	p.N3399K	DNAH8_ENST00000441566.1_Missense_Mutation_p.N3363K|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3616K|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3399					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N3399K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCCTTTCAATCAGATATTTA	0.418																																							uc003ooe.1		NA																	2	Substitution - Missense(2)		kidney(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(10195-10197)AAT>AAA		dynein, axonemal, heavy polypeptide 8							189.0	182.0	185.0					6																	38891824		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38891824T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10197T>A	6.37:g.38891824T>A	ENSP00000352312:p.Asn3399Lys					uc003oof.1_Intron	p.N3399K	NM_001371	NP_001362					71	10797	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10197T>A		.	.	.	.	.	.	.	.	.	.	T	23.5	4.428568	0.83667	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	6.06	-0.555	0.11807	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	M	0.89658	3.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.83475	0.0061	10	0.62326	D	0.03	.	10.6324	0.45545	0.0:0.3096:0.0:0.6904	.	3399	Q96JB1	DYH8_HUMAN	K	3604;3604;3399;3363	ENSP00000333363:N3604K;ENSP00000352312:N3399K;ENSP00000402294:N3363K	ENSP00000333363:N3604K	N	+	3	2	DNAH8	38999802	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.650000	0.24858	-0.043000	0.13513	-0.290000	0.09829	AAT		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		23	94	0	0	0	0.00333	0	23	94				
LRFN2	57497	broad.mit.edu	37	6	40360088	40360088	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:40360088C>T	ENST00000338305.6	-	3	2506	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	655						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCATCAGGCGGTCAAGGCT	0.711																																							uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(1963-1965)CGC>CAC		leucine rich repeat and fibronectin type III							8.0	10.0	9.0					6																	40360088		2153	4221	6374	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360088C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1964G>A	6.37:g.40360088C>T	ENSP00000345985:p.Arg655His						p.R655H	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2429	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		655			Cytoplasmic (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1964G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002480	0.35320	.	.	ENSG00000156564	ENST00000338305	T	0.56941	0.43	4.78	4.78	0.61160	.	0.107851	0.64402	D	0.000008	T	0.22360	0.0539	N	0.12182	0.205	0.44469	D	0.997406	B	0.12013	0.005	B	0.04013	0.001	T	0.04281	-1.0963	10	0.38643	T	0.18	.	16.5351	0.84371	0.0:1.0:0.0:0.0	.	655	Q9ULH4	LRFN2_HUMAN	H	655	ENSP00000345985:R655H	ENSP00000345985:R655H	R	-	2	0	LRFN2	40468066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.782000	0.47758	2.488000	0.83962	0.555000	0.69702	CGC		0.711	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		5	10	0	0	0	0.001168	0	5	10				
TRERF1	55809	broad.mit.edu	37	6	42225903	42225904	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:42225903_42225904CC>AA	ENST00000372922.4	-	10	2867_2868	c.2305_2306GG>TT	c.(2305-2307)GGg>TTg	p.G769L	TRERF1_ENST00000340840.2_Missense_Mutation_p.G686L|TRERF1_ENST00000354325.2_Missense_Mutation_p.G686L|TRERF1_ENST00000541110.1_Missense_Mutation_p.G789L|TRERF1_ENST00000372917.4_Missense_Mutation_p.G686L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	769	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCTCCAGGCCCTGGGGTGACC	0.421																																							uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2305-2307)GGG>TTG		transcriptional regulating factor 1																																				SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42225903_42225904CC>AA	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2305_2306delinsAA	6.37:g.42225903_42225904delinsAA	ENSP00000362013:p.Gly769Leu					TRERF1_uc011duq.1_Missense_Mutation_p.G686L|TRERF1_uc003osb.2_Missense_Mutation_p.G525L|TRERF1_uc003osc.2_Missense_Mutation_p.G525L|TRERF1_uc003ose.2_Missense_Mutation_p.G789L	p.G769L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		10	2868_2869	-	Colorectal(47;0.196)		769			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	DNP	ENST00000372922.4	37	c.2305_2306GG>TT	CCDS4867.1																																																																																				0.421	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		13	33	0	0	0	0.004672	0	13	33				
ABCC10	89845	broad.mit.edu	37	6	43400872	43400872	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:43400872G>T	ENST00000372530.4	+	3	1369	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	ABCC10_ENST00000244533.3_Missense_Mutation_p.G342V|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	385	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AACCTACTAGGCACTGACTCT	0.607																																							uc003ouy.1		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(1153-1155)GGC>GTC		ATP-binding cassette, sub-family C, member 10							64.0	65.0	65.0					6																	43400872		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400872G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1154G>T	6.37:g.43400872G>T	ENSP00000361608:p.Gly385Val					ABCC10_uc003ouz.1_Missense_Mutation_p.G342V|ABCC10_uc010jyo.1_5'Flank	p.G385V	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1369	+	all_lung(25;0.00536)		385			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1154G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190557	0.78789	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.89415	-2.51;-2.51	5.37	5.37	0.77165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.108387	0.64402	D	0.000005	D	0.89866	0.6839	L	0.29908	0.895	0.80722	D	1	P;D	0.69078	0.868;0.997	P;D	0.68483	0.572;0.958	D	0.91460	0.5188	10	0.87932	D	0	-15.5233	19.1135	0.93328	0.0:0.0:1.0:0.0	.	342;385	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	V	385;342	ENSP00000361608:G385V;ENSP00000244533:G342V	ENSP00000244533:G342V	G	+	2	0	ABCC10	43508850	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	9.869000	0.99810	2.528000	0.85240	0.561000	0.74099	GGC		0.607	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		20	57	1	0	3.8784e-16	0.001882	5.3122e-16	20	57				
SLC29A1	2030	broad.mit.edu	37	6	44199133	44199133	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:44199133G>C	ENST00000393841.1	+	10	1290	c.799G>C	c.(799-801)Gga>Cga	p.G267R	SLC29A1_ENST00000371731.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000371713.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000393844.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000313248.7_Missense_Mutation_p.G346R|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371724.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000371708.1_Missense_Mutation_p.G267R|SLC29A1_ENST00000371740.5_Missense_Mutation_p.G267R|SLC29A1_ENST00000427851.2_Missense_Mutation_p.G267R|SLC29A1_ENST00000371755.3_Missense_Mutation_p.G267R	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	267					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	AGAGGAATCTGGAGTTTCAGT	0.478																																							uc003owu.1		NA																	0				large_intestine(2)|skin(1)	3						c.(799-801)GGA>CGA		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						101.0	85.0	90.0					6																	44199133		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44199133G>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.799G>C	6.37:g.44199133G>C	ENSP00000377424:p.Gly267Arg					SLC29A1_uc003owv.1_Missense_Mutation_p.G267R|SLC29A1_uc003oww.1_Missense_Mutation_p.G346R|SLC29A1_uc003owx.1_Missense_Mutation_p.G267R|SLC29A1_uc003owy.1_Missense_Mutation_p.G267R|SLC29A1_uc003owz.1_Missense_Mutation_p.G267R	p.G267R	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1128	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		267			Cytoplasmic (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.799G>C	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296362	0.10622	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.27	-2.27	0.06846	.	1.609670	0.03180	N	0.171881	T	0.29914	0.0748	L	0.48362	1.52	0.09310	N	1	B;B	0.15930	0.015;0.002	B;B	0.13407	0.009;0.004	T	0.12553	-1.0543	10	0.16896	T	0.51	-3.9842	10.2192	0.43188	0.6509:0.0:0.3491:0.0	.	346;267	B3KQV7;Q99808	.;S29A1_HUMAN	R	267;346;267;267;267;267;267;267;267;267	ENSP00000377427:G267R;ENSP00000319152:G346R;ENSP00000392668:G267R;ENSP00000360820:G267R;ENSP00000360805:G267R;ENSP00000360796:G267R;ENSP00000377424:G267R;ENSP00000360789:G267R;ENSP00000360778:G267R;ENSP00000360773:G267R	ENSP00000319152:G346R	G	+	1	0	SLC29A1	44307111	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.787000	0.04618	-0.758000	0.04690	-0.140000	0.14226	GGA		0.478	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			5	4	0	0	0	0.001168	0	5	4				
CDC5L	988	broad.mit.edu	37	6	44390392	44390392	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:44390392C>G	ENST00000371477.3	+	10	1549	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	417	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGACTCCTTCTAATGGAGCT	0.408																																							uc003oxl.2		NA																	0				lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(1249-1251)TCT>TGT		CDC5-like							77.0	84.0	81.0					6																	44390392		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44390392C>G	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1250C>G	6.37:g.44390392C>G	ENSP00000360532:p.Ser417Cys						p.S417C	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1509	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		417			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1250C>G	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842729	0.71488	.	.	ENSG00000096401	ENST00000371477	T	0.47869	0.83	5.85	5.85	0.93711	.	0.155671	0.64402	D	0.000014	T	0.44705	0.1306	L	0.43152	1.355	0.80722	D	1	P	0.37083	0.581	P	0.49752	0.621	T	0.43829	-0.9367	10	0.59425	D	0.04	-11.1098	14.3231	0.66499	0.0:0.9295:0.0:0.0705	.	417	Q99459	CDC5L_HUMAN	C	417	ENSP00000360532:S417C	ENSP00000360532:S417C	S	+	2	0	CDC5L	44498370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.138000	0.58017	2.767000	0.95098	0.563000	0.77884	TCT		0.408	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			28	83	0	0	0	0.008361	0	28	83				
TFAP2D	83741	broad.mit.edu	37	6	50712878	50712878	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:50712878C>A	ENST00000008391.3	+	6	1170	c.942C>A	c.(940-942)gcC>gcA	p.A314A	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGTTTCCAGCCAAAGCAGTAG	0.458																																							uc003paf.2		NA																	0				ovary(6)|breast(1)	7						c.(940-942)GCC>GCA		transcription factor AP-2 beta-like 1							119.0	113.0	115.0					6																	50712878		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50712878C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.942C>A	6.37:g.50712878C>A						TFAP2D_uc011dwt.1_RNA	p.A314A	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			6	1454	+	Lung NSC(77;0.0334)		314			H-S-H (helix-span-helix), dimerization.			Silent	SNP	ENST00000008391.3	37	c.942C>A	CCDS4933.1																																																																																				0.458	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		27	21	1	0	6.32553e-13	0.004656	8.11783e-13	27	21				
GSTA1	2938	broad.mit.edu	37	6	52659012	52659012	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:52659012G>A	ENST00000334575.5	-	5	480	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	109	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L109L(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	CATACGGGCAGAAGGAGGATC	0.388																																							uc003paz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(325-327)CTG>TTG		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						176.0	167.0	170.0					6																	52659012		2203	4300	6503	SO:0001819	synonymous_variant	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52659012G>A		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.325C>T	6.37:g.52659012G>A							p.L109L	NM_145740	NP_665683	P08263	GSTA1_HUMAN			5	437	-	Lung NSC(77;0.118)		109			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Silent	SNP	ENST00000334575.5	37	c.325C>T	CCDS4945.1																																																																																				0.388	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			50	132	0	0	0	0.00361	0	50	132				
GSTA5	221357	broad.mit.edu	37	6	52697680	52697680	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:52697680T>A	ENST00000370989.2	-	5	552	c.523A>T	c.(523-525)Atc>Ttc	p.I175F	GSTA5_ENST00000284562.2_Missense_Mutation_p.I175F|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	175	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AAGCTGGAGATAAGACTCGAG	0.522																																							uc003pba.1		NA																	0				ovary(1)	1						c.(523-525)ATC>TTC		glutathione S-transferase alpha 5	Glutathione(DB00143)						130.0	119.0	123.0					6																	52697680		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52697680T>A	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.523A>T	6.37:g.52697680T>A	ENSP00000360028:p.Ile175Phe						p.I175F	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			6	593	-	Lung NSC(77;0.0912)		175			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.523A>T	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699996	0.48307	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01933	4.55;4.55	2.66	-5.32	0.02722	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.684588	0.13166	N	0.408667	T	0.00666	0.0022	L	0.36672	1.1	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.44559	-0.9320	10	0.87932	D	0	.	7.8992	0.29725	0.1064:0.0:0.6775:0.2161	.	175	Q7RTV2	GSTA5_HUMAN	F	175	ENSP00000360028:I175F;ENSP00000284562:I175F	ENSP00000284562:I175F	I	-	1	0	GSTA5	52805639	0.007000	0.16637	0.001000	0.08648	0.499000	0.33736	0.313000	0.19415	-1.192000	0.02691	0.254000	0.18369	ATC		0.522	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		66	55	0	0	0	0.00361	0	66	55				
MLIP	90523	broad.mit.edu	37	6	53989559	53989559	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:53989559C>A	ENST00000274897.5	+	3	621	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	MLIP_ENST00000514921.1_Missense_Mutation_p.L170M|MLIP_ENST00000370877.2_Missense_Mutation_p.L118M|MLIP_ENST00000370876.2_Missense_Mutation_p.L108M|MLIP_ENST00000502396.1_Missense_Mutation_p.L181M|MLIP_ENST00000509997.1_Missense_Mutation_p.L118M|MLIP_ENST00000358276.5_Missense_Mutation_p.L164M|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	170						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTCGTCCAGTCTGGTCTCTGA	0.552																																							uc003pcg.3		NA																	0					0						c.(508-510)CTG>ATG		hypothetical protein LOC90523							78.0	72.0	74.0					6																	53989559		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53989559C>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.508C>A	6.37:g.53989559C>A	ENSP00000274897:p.Leu170Met					C6orf142_uc003pcf.2_Missense_Mutation_p.L170M|C6orf142_uc003pch.3_Missense_Mutation_p.L108M|C6orf142_uc011dwz.1_Missense_Mutation_p.L129M|C6orf142_uc011dxa.1_Missense_Mutation_p.L181M	p.L170M	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			3	621	+	Lung NSC(77;0.0317)		170					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.508C>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719271	0.68844	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.47	4.6	0.57074	.	0.344090	0.27280	N	0.020095	T	0.41743	0.1172	M	0.64997	1.995	0.25938	N	0.982911	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.995;0.997	D;D;D;P;D	0.91635	0.976;0.999;0.998;0.885;0.989	T	0.18840	-1.0324	9	.	.	.	-10.9394	9.2014	0.37260	0.0:0.9037:0.0:0.0963	.	181;181;108;170;170	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	M	170;170;118;118;108;52;52;129;181;164;52;171	ENSP00000274897:L170M;ENSP00000425142:L170M;ENSP00000359914:L118M;ENSP00000427584:L118M;ENSP00000359913:L108M;ENSP00000411917:L52M;ENSP00000427057:L52M;ENSP00000426830:L129M;ENSP00000426290:L181M;ENSP00000351019:L164M;ENSP00000421444:L171M	.	L	+	1	2	MLIP	54097518	0.322000	0.24634	0.998000	0.56505	0.991000	0.79684	0.858000	0.27845	2.563000	0.86464	0.650000	0.86243	CTG		0.552	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		18	49	1	0	3.52763e-06	0.00499	3.90747e-06	18	49				
LGSN	51557	broad.mit.edu	37	6	63990034	63990034	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:63990034C>A	ENST00000370657.4	-	4	1455	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	474					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCTAGAGCCTGTCTCAGGC	0.393																																							uc003peh.2		NA																	0				skin(2)	2						c.(1420-1422)CAG>CAT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						77.0	79.0	79.0					6																	63990034		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990034C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1422G>T	6.37:g.63990034C>A	ENSP00000359691:p.Gln474His					LGSN_uc003pei.2_3'UTR	p.Q474H	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1456	-			474					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1422G>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	6.283	0.420379	0.11928	.	.	ENSG00000146166	ENST00000370657	D	0.85955	-2.05	5.96	1.47	0.22746	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.481200	0.25138	N	0.032842	T	0.67126	0.2860	L	0.58101	1.795	0.80722	D	1	P	0.34837	0.472	B	0.33799	0.17	T	0.67898	-0.5551	10	0.62326	D	0.03	-0.8992	2.4554	0.04528	0.3923:0.3191:0.0:0.2886	.	474	Q5TDP6	LGSN_HUMAN	H	474	ENSP00000359691:Q474H	ENSP00000359691:Q474H	Q	-	3	2	LGSN	64047993	0.942000	0.31987	0.860000	0.33809	0.034000	0.12701	0.022000	0.13511	0.851000	0.35264	0.655000	0.94253	CAG		0.393	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		19	42	1	0	2.94398e-08	0.007413	3.44236e-08	19	42				
COL19A1	1310	broad.mit.edu	37	6	70639585	70639585	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:70639585C>T	ENST00000322773.4	+	6	761	c.659C>T	c.(658-660)cCt>cTt	p.P220L		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	220	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GATGGCAAGCCTGTGGATGTA	0.348																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(658-660)CCT>CTT		alpha 1 type XIX collagen precursor							83.0	82.0	82.0					6																	70639585		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639585C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.659C>T	6.37:g.70639585C>T	ENSP00000316030:p.Pro220Leu					COL19A1_uc010kam.1_Missense_Mutation_p.P116L	p.P220L	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	776	+			220			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.659C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402424	0.42613	.	.	ENSG00000082293	ENST00000322773	T	0.02158	4.42	5.96	5.96	0.96718	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03000	-1.1084	10	0.49607	T	0.09	.	20.4116	0.99017	0.0:1.0:0.0:0.0	.	220	Q14993	COJA1_HUMAN	L	220	ENSP00000316030:P220L	ENSP00000316030:P220L	P	+	2	0	COL19A1	70696306	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.295000	0.78780	2.827000	0.97445	0.655000	0.94253	CCT		0.348	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			9	46	0	0	0	0.000978	0	9	46				
COL19A1	1310	broad.mit.edu	37	6	70909428	70909428	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:70909428C>G	ENST00000322773.4	+	49	3313	c.3211C>G	c.(3211-3213)Cct>Gct	p.P1071A	COL19A1_ENST00000393344.1_Missense_Mutation_p.P693A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1071	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACCAGGAGACCCTGGACCCCA	0.473																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(3211-3213)CCT>GCT		alpha 1 type XIX collagen precursor							57.0	63.0	61.0					6																	70909428		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70909428C>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3211C>G	6.37:g.70909428C>G	ENSP00000316030:p.Pro1071Ala						p.P1071A	NM_001858	NP_001849	Q14993	COJA1_HUMAN			49	3328	+			1071			Triple-helical region 6 (COL6).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3211C>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161375	0.57368	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.95518	-3.73;-3.73	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	M	0.69523	2.12	0.46823	D	0.999211	D	0.58268	0.982	P	0.51266	0.664	D	0.93090	0.6499	10	0.20519	T	0.43	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	1071	Q14993	COJA1_HUMAN	A	1071;693;146	ENSP00000316030:P1071A;ENSP00000377013:P693A	ENSP00000316030:P1071A	P	+	1	0	COL19A1	70966149	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.326000	0.65875	2.804000	0.96469	0.650000	0.86243	CCT		0.473	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			49	18	0	0	0	0.00361	0	49	18				
FAM135A	57579	broad.mit.edu	37	6	71235546	71235546	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:71235546C>G	ENST00000418814.2	+	15	3373	c.2759C>G	c.(2758-2760)cCt>cGt	p.P920R	FAM135A_ENST00000505868.1_Missense_Mutation_p.P920R|FAM135A_ENST00000457062.2_Missense_Mutation_p.P707R|FAM135A_ENST00000370479.3_Missense_Mutation_p.P707R|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.P724R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	920										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTAAAGACCCTTTACAATTT	0.368																																							uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(2758-2760)CCT>CGT		hypothetical protein LOC57579 isoform c							60.0	65.0	63.0					6																	71235546		2203	4298	6501	SO:0001583	missense	57579							g.chr6:71235546C>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2759C>G	6.37:g.71235546C>G	ENSP00000410768:p.Pro920Arg					FAM135A_uc003pfi.2_Missense_Mutation_p.P724R|FAM135A_uc003pfh.2_Missense_Mutation_p.P707R|FAM135A_uc003pfl.2_Missense_Mutation_p.P587R|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_Missense_Mutation_p.P291R|FAM135A_uc010kan.1_5'Flank	p.P920R	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			13	2892	+			920					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.2759C>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	8.461	0.855255	0.17106	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.19669	2.16;2.15;2.15;2.15;2.13	5.96	5.09	0.68999	.	0.678176	0.15844	N	0.241898	T	0.10294	0.0252	M	0.62723	1.935	0.31044	N	0.715939	P;P;B;P	0.42757	0.789;0.684;0.196;0.651	P;B;B;B	0.45428	0.48;0.136;0.091;0.299	T	0.14727	-1.0462	10	0.12103	T	0.63	.	5.9249	0.19104	0.139:0.6546:0.0:0.2064	.	920;920;724;707	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	R	920;707;707;724;920	ENSP00000410768:P920R;ENSP00000359510:P707R;ENSP00000409201:P707R;ENSP00000354913:P724R;ENSP00000423307:P920R	ENSP00000354913:P724R	P	+	2	0	FAM135A	71292267	0.747000	0.28283	1.000000	0.80357	0.989000	0.77384	1.196000	0.32198	1.520000	0.48965	0.655000	0.94253	CCT		0.368	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		15	37	0	0	0	0.003163	0	15	37				
SMAP1	60682	broad.mit.edu	37	6	71567637	71567637	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:71567637G>T	ENST00000370455.3	+	10	1222	c.974G>T	c.(973-975)gGa>gTa	p.G325V	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Missense_Mutation_p.G298V|SMAP1_ENST00000316999.5_Missense_Mutation_p.G298V	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	325					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GTATTTATGGGACCCACAAAT	0.443																																							uc003pfr.2		NA																	0					0						c.(973-975)GGA>GTA		stromal membrane-associated GTPase-activating							84.0	86.0	85.0					6																	71567637		2203	4300	6503	SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71567637G>T	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.974G>T	6.37:g.71567637G>T	ENSP00000359484:p.Gly325Val					SMAP1_uc003pfs.2_Missense_Mutation_p.G298V|SMAP1_uc010kao.2_Missense_Mutation_p.G298V|SMAP1_uc010kap.2_Missense_Mutation_p.G315V	p.G325V	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			10	1222	+			325					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	c.974G>T	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580776	0.65992	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455	T;T;T	0.24151	2.15;2.16;1.87	5.53	4.66	0.58398	.	0.426506	0.27284	N	0.020065	T	0.38401	0.1039	M	0.66939	2.045	0.80722	D	1	D;P;P;D	0.76494	0.999;0.928;0.741;0.999	D;P;B;D	0.71656	0.961;0.626;0.426;0.974	T	0.39333	-0.9619	10	0.87932	D	0	-10.797	14.3639	0.66792	0.0712:0.0:0.9288:0.0	.	325;298;298;325	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	V	298;298;325	ENSP00000359481:G298V;ENSP00000313382:G298V;ENSP00000359484:G325V	ENSP00000313382:G298V	G	+	2	0	SMAP1	71624358	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.330000	0.79181	1.343000	0.45638	-0.142000	0.14014	GGA		0.443	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		37	26	1	0	4.90274e-10	0.00623	5.9485e-10	37	26				
RIMS1	22999	broad.mit.edu	37	6	72806748	72806748	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:72806748G>T	ENST00000521978.1	+	3	342	c.342G>T	c.(340-342)ccG>ccT	p.P114P	RIMS1_ENST00000348717.5_Silent_p.P114P|RIMS1_ENST00000522291.1_Silent_p.P114P|RIMS1_ENST00000517960.1_Silent_p.P114P|RIMS1_ENST00000520567.1_Silent_p.P114P|RIMS1_ENST00000518273.1_Silent_p.P114P|RIMS1_ENST00000264839.7_Silent_p.P114P|RIMS1_ENST00000491071.2_Silent_p.P114P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	114	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACGATGCTCCGACTTGTGGAA	0.502																																							uc003pga.2		NA																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(340-342)CCG>CCT		regulating synaptic membrane exocytosis 1							86.0	85.0	86.0					6																	72806748		1998	4182	6180	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806748G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.342G>T	6.37:g.72806748G>T							p.P114P	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			3	419	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	114			RabBD.|FYVE-type.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.342G>T	CCDS47449.1																																																																																				0.502	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			25	10	1	0	5.35356e-11	0.00278	6.63704e-11	25	10				
COL12A1	1303	broad.mit.edu	37	6	75861589	75861589	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:75861589C>G	ENST00000322507.8	-	20	4303	c.3994G>C	c.(3994-3996)Gct>Cct	p.A1332P	COL12A1_ENST00000416123.2_Missense_Mutation_p.A1332P|COL12A1_ENST00000483888.2_Missense_Mutation_p.A1332P|COL12A1_ENST00000345356.6_Missense_Mutation_p.A168P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1332	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTACCAATAGCAAACAGCTCC	0.413																																							uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(3994-3996)GCT>CCT		collagen, type XII, alpha 1 long isoform							164.0	151.0	155.0					6																	75861589		1946	4144	6090	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75861589C>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3994G>C	6.37:g.75861589C>G	ENSP00000325146:p.Ala1332Pro					COL12A1_uc003pht.2_Missense_Mutation_p.A168P	p.A1332P	NM_004370	NP_004361	Q99715	COCA1_HUMAN			20	4160	-			1332			VWFA 3.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.3994G>C	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.453858|4.453858	0.84209|0.84209	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	D;D;D;D|.	0.85629|.	-2.01;-2.01;-2.01;-2.01|.	5.78|5.78	5.78|5.78	0.91487|0.91487	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81044|0.81044	0.4741|0.4741	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	T|T	0.81331|0.81331	-0.0981|-0.0981	10|5	0.72032|.	D|.	0.01|.	.|.	20.0175|20.0175	0.97485|0.97485	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	168;1332|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	P|S	1332;1332;168;1332;1332|73	ENSP00000325146:A1332P;ENSP00000305147:A168P;ENSP00000412864:A1332P;ENSP00000421216:A1332P|.	ENSP00000325146:A1332P|.	A|C	-|-	1|2	0|0	COL12A1|COL12A1	75918309|75918309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.639000|0.639000	0.38242|0.38242	7.487000|7.487000	0.81328|0.81328	2.730000|2.730000	0.93505|0.93505	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		73	48	0	0	0	0.00361	0	73	48				
TBX18	9096	broad.mit.edu	37	6	85446925	85446925	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:85446925C>A	ENST00000369663.5	-	8	1639	c.1302G>T	c.(1300-1302)ttG>ttT	p.L434F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	434					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGGTCTCTGCCAAAGATGTGC	0.607																																							uc003pkl.1		NA																	0				ovary(2)|pancreas(2)|lung(1)	5						c.(1300-1302)TTG>TTT		T-box 18							117.0	103.0	108.0					6																	85446925		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446925C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1302G>T	6.37:g.85446925C>A	ENSP00000358677:p.Leu434Phe					TBX18_uc010kbq.1_Intron	p.L434F	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1302	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	434					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1302G>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427347	0.25726	.	.	ENSG00000112837	ENST00000369663	D	0.87571	-2.27	5.18	3.39	0.38822	.	.	.	.	.	T	0.78007	0.4216	L	0.27053	0.805	0.39271	D	0.964397	D	0.69078	0.997	P	0.59221	0.854	T	0.74463	-0.3657	9	0.21540	T	0.41	.	8.7886	0.34837	0.0:0.7683:0.0:0.2317	.	434	O95935	TBX18_HUMAN	F	434	ENSP00000358677:L434F	ENSP00000358677:L434F	L	-	3	2	TBX18	85503644	1.000000	0.71417	0.986000	0.45419	0.190000	0.23558	1.905000	0.39878	0.571000	0.29365	0.585000	0.79938	TTG		0.607	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		37	8	1	0	3.76114e-14	0.004289	4.93825e-14	37	8				
GJB7	375519	broad.mit.edu	37	6	87993968	87993968	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:87993968G>T	ENST00000525899.1	-	3	1008	c.663C>A	c.(661-663)ctC>ctA	p.L221L	GJB7_ENST00000296882.3_Silent_p.L221L	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	221					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CTCACACACTGAGGACTTGAG	0.423																																							uc003plo.2		NA																	0					0						c.(661-663)CTC>CTA		gap junction protein, beta 7, 25kDa							63.0	63.0	63.0					6																	87993968		2203	4300	6503	SO:0001819	synonymous_variant	375519				cell communication	connexon complex|integral to membrane		g.chr6:87993968G>T	AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.663C>A	6.37:g.87993968G>T							p.L221L	NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0167)	3	1009	-		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)	221			Cytoplasmic (Potential).		B3KXL0|Q96KP0	Silent	SNP	ENST00000525899.1	37	c.663C>A	CCDS5008.1																																																																																				0.423	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1			24	5	1	0	3.7963e-18	0.00333	5.41449e-18	24	5				
MDN1	23195	broad.mit.edu	37	6	90460092	90460092	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:90460092C>T	ENST00000369393.3	-	24	3502	c.3387G>A	c.(3385-3387)ggG>ggA	p.G1129G	MDN1_ENST00000428876.1_Silent_p.G1129G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1129					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGACAAGCTTCCCTGAGGAGT	0.423																																							uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(3385-3387)GGG>GGA		MDN1, midasin homolog							180.0	155.0	164.0					6																	90460092		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90460092C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3387G>A	6.37:g.90460092C>T							p.G1129G	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	24	3503	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1129					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.3387G>A	CCDS5024.1																																																																																				0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			93	16	0	0	0	0.00361	0	93	16				
EPHA7	2045	broad.mit.edu	37	6	93956558	93956558	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:93956558A>G	ENST00000369303.4	-	15	2862	c.2678T>C	c.(2677-2679)aTg>aCg	p.M893T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	893	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTTTCGAATCATTTTGTCTAG	0.418																																							uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2677-2679)ATG>ACG		ephrin receptor EphA7 precursor							139.0	132.0	134.0					6																	93956558		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956558A>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2678T>C	6.37:g.93956558A>G	ENSP00000358309:p.Met893Thr					EPHA7_uc003pof.2_Missense_Mutation_p.M888T|EPHA7_uc011eac.1_Missense_Mutation_p.M889T	p.M893T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2919	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	893			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2678T>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039053	0.75617	.	.	ENSG00000135333	ENST00000369303	T	0.61510	0.1	5.74	5.74	0.90152	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	L	0.51914	1.62	0.80722	D	1	B;P;P	0.47302	0.399;0.893;0.829	B;P;P	0.50934	0.149;0.654;0.452	T	0.61603	-0.7029	10	0.87932	D	0	.	16.0417	0.80687	1.0:0.0:0.0:0.0	.	889;888;893	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	T	893	ENSP00000358309:M893T	ENSP00000358309:M893T	M	-	2	0	EPHA7	94013279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.228000	0.95250	2.198000	0.70561	0.482000	0.46254	ATG		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			38	12	0	0	0	0.006999	0	38	12				
GRIK2	2898	broad.mit.edu	37	6	102069914	102069914	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:102069914C>A	ENST00000421544.1	+	2	696	c.206C>A	c.(205-207)aCa>aAa	p.T69K	GRIK2_ENST00000369138.1_Missense_Mutation_p.T69K|GRIK2_ENST00000413795.1_Missense_Mutation_p.T69K|GRIK2_ENST00000358361.3_Missense_Mutation_p.T69K|GRIK2_ENST00000318991.6_Missense_Mutation_p.T69K|GRIK2_ENST00000369134.4_Missense_Mutation_p.T20K|GRIK2_ENST00000369137.3_Missense_Mutation_p.T69K	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	69					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGAAACAGAACATTGCTACCC	0.368																																							uc003pqp.3		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(205-207)ACA>AAA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						114.0	106.0	109.0					6																	102069914		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102069914C>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.206C>A	6.37:g.102069914C>A	ENSP00000397026:p.Thr69Lys					GRIK2_uc003pqn.2_Missense_Mutation_p.T69K|GRIK2_uc003pqo.3_Missense_Mutation_p.T69K|GRIK2_uc010kcw.2_Missense_Mutation_p.T69K	p.T69K	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	2	455	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	69			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.206C>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874334	0.72180	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.67	5.67	0.87782	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.64676	1.99	0.58432	D	0.999996	P;P;P	0.49253	0.903;0.921;0.903	P;P;P	0.48873	0.458;0.593;0.458	T	0.79254	-0.1879	10	0.27785	T	0.31	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	69;69;69	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	K	69;69;69;69;69;69;69;20;31	ENSP00000397026:T69K;ENSP00000405596:T69K;ENSP00000358134:T69K;ENSP00000351128:T69K;ENSP00000358133:T69K;ENSP00000313276:T69K;ENSP00000358130:T20K	ENSP00000313276:T69K	T	+	2	0	GRIK2	102176607	1.000000	0.71417	0.970000	0.41538	0.715000	0.41141	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	ACA		0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			31	11	1	0	4.74835e-14	0.002096	6.22176e-14	31	11				
FOXO3	2309	broad.mit.edu	37	6	108984932	108984932	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:108984932G>T	ENST00000343882.6	+	3	1200	c.896G>T	c.(895-897)aGc>aTc	p.S299I	FOXO3_ENST00000540898.1_Missense_Mutation_p.S79I|FOXO3_ENST00000406360.1_Missense_Mutation_p.S299I	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	299				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ACGTCACGCAGCAGTGATGAG	0.627																																							uc003psk.2		NA																	0				central_nervous_system(4)|lung(2)	6						c.(895-897)AGC>ATC		forkhead box O3A							23.0	24.0	24.0					6																	108984932		2201	4298	6499	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984932G>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.896G>T	6.37:g.108984932G>T	ENSP00000339527:p.Ser299Ile					FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.S299I|FOXO3_uc011ean.1_Missense_Mutation_p.S79I|FOXO3_uc010kdj.1_Missense_Mutation_p.S79I	p.S299I	NM_201559	NP_963853	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	3	1212	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	299	PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).				B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.896G>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909530	0.52439	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91894	-2.93;-2.93	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.85859	2.78	0.80722	D	1	B	0.31837	0.342	B	0.31547	0.132	D	0.90255	0.4296	10	0.48119	T	0.1	-13.9933	20.1432	0.98067	0.0:0.0:1.0:0.0	.	299	O43524	FOXO3_HUMAN	I	299;299;79;79	ENSP00000339527:S299I;ENSP00000385824:S299I	ENSP00000339527:S299I	S	+	2	0	FOXO3	109091625	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	9.476000	0.97823	2.769000	0.95229	0.561000	0.74099	AGC		0.627	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			22	4	1	0	1.22574e-08	0.002299	1.44812e-08	22	4				
SLC22A16	85413	broad.mit.edu	37	6	110777975	110777975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:110777975C>A	ENST00000368919.3	-	2	365	c.299G>T	c.(298-300)aGg>aTg	p.R100M	SLC22A16_ENST00000456137.2_Missense_Mutation_p.R100M|SLC22A16_ENST00000330550.4_Missense_Mutation_p.R66M|SLC22A16_ENST00000439654.1_Missense_Mutation_p.R100M|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	100					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CCTGCTACACCTTGAGAGCTC	0.473																																							uc003puf.2		NA																	0				ovary(1)	1						c.(298-300)AGG>ATG		solute carrier family 22, member 16							235.0	235.0	235.0					6																	110777975		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110777975C>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.299G>T	6.37:g.110777975C>A	ENSP00000357915:p.Arg100Met					SLC22A16_uc003pue.2_Missense_Mutation_p.R81M|SLC22A16_uc003pug.2_Missense_Mutation_p.R100M	p.R100M	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	366	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	100					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.299G>T	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365583	0.41902	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	T;T;T;T;T;T;T	0.79454	-0.15;-0.15;-1.27;-0.15;-0.15;-0.15;-0.15	4.59	-1.41	0.08941	.	.	.	.	.	T	0.50922	0.1644	N	0.19112	0.55	0.09310	N	1	P;D	0.54964	0.947;0.969	P;P	0.50970	0.453;0.655	T	0.45026	-0.9289	9	0.59425	D	0.04	.	4.7385	0.13001	0.1741:0.1933:0.0:0.6326	.	100;66	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	M	100;17;66;100;57;100;57	ENSP00000357915:R100M;ENSP00000395642:R17M;ENSP00000328583:R66M;ENSP00000408799:R100M;ENSP00000416310:R57M;ENSP00000402111:R100M;ENSP00000401007:R57M	ENSP00000328583:R66M	R	-	2	0	SLC22A16	110884668	0.001000	0.12720	0.000000	0.03702	0.072000	0.16883	0.628000	0.24522	-0.183000	0.10585	-0.309000	0.09137	AGG		0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		134	34	1	0	1.67419e-43	0.00361	2.99804e-43	134	34				
HS3ST5	222537	broad.mit.edu	37	6	114378639	114378639	+	Missense_Mutation	SNP	G	G	T	rs267600771		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:114378639G>T	ENST00000312719.5	-	5	2011	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.L275M			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	275					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CTTGGAGGCAGATTTAGGAAC	0.428																																							uc003pwg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(823-825)CTG>ATG		heparan sulfate (glucosamine)							89.0	92.0	91.0					6																	114378639		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378639G>T	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.823C>A	6.37:g.114378639G>T	ENSP00000427888:p.Leu275Met					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.L275M	p.L275M	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	855	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	275			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.823C>A	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800701	0.70567	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.83755	-1.76;-1.76	6.06	6.06	0.98353	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92901	0.6339	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	275	Q8IZT8	HS3S5_HUMAN	M	275	ENSP00000427888:L275M;ENSP00000440332:L275M	ENSP00000427888:L275M	L	-	1	2	HS3ST5	114485332	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CTG		0.428	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		30	11	1	0	8.88839e-20	0.002096	1.30327e-19	30	11				
GPRC6A	222545	broad.mit.edu	37	6	117128190	117128190	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:117128190G>T	ENST00000310357.3	-	3	699	c.678C>A	c.(676-678)aaC>aaA	p.N226K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.N226K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.N226K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	226					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTATAAAAGTGTTAAGAGCCA	0.393																																							uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(676-678)AAC>AAA		G protein-coupled receptor, family C, group 6,							170.0	172.0	171.0					6																	117128190		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128190G>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.678C>A	6.37:g.117128190G>T	ENSP00000309493:p.Asn226Lys					GPRC6A_uc003pxk.1_Missense_Mutation_p.N226K|GPRC6A_uc003pxl.1_Missense_Mutation_p.N226K	p.N226K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	700	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	226			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.678C>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	4.830	0.154355	0.09236	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85773	-2.03;-2.03;-2.03	6.17	1.01	0.19927	Extracellular ligand-binding receptor (1);	0.700219	0.13500	N	0.383291	T	0.41789	0.1174	N	0.11313	0.125	0.09310	N	1	B;B;B	0.30236	0.274;0.082;0.129	B;B;B	0.27500	0.072;0.058;0.08	T	0.36407	-0.9749	10	0.18710	T	0.47	.	1.8544	0.03175	0.3146:0.2104:0.3703:0.1047	.	226;226;226	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	K	226	ENSP00000309493:N226K;ENSP00000357537:N226K;ENSP00000433465:N226K	ENSP00000309493:N226K	N	-	3	2	GPRC6A	117234883	0.746000	0.28272	0.346000	0.25655	0.058000	0.15608	-0.098000	0.11024	0.144000	0.18951	-0.982000	0.02568	AAC		0.393	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			72	22	1	0	2.84776e-26	0.00361	4.57439e-26	72	22				
RFX6	222546	broad.mit.edu	37	6	117239224	117239224	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:117239224G>T	ENST00000332958.2	+	10	1013	c.997G>T	c.(997-999)Gca>Tca	p.A333S	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	333					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTCATTCCTGCAACAATGCA	0.289																																							uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(997-999)GCA>TCA		regulatory factor X, 6							97.0	101.0	100.0					6																	117239224		2203	4293	6496	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117239224G>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.997G>T	6.37:g.117239224G>T	ENSP00000332208:p.Ala333Ser						p.A333S	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			10	1060	+			333					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.997G>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353389	0.41700	.	.	ENSG00000185002	ENST00000332958	T	0.56444	0.46	5.63	4.75	0.60458	.	0.160162	0.56097	N	0.000035	T	0.13114	0.0318	N	0.02916	-0.46	0.58432	D	0.999995	B	0.25563	0.129	B	0.18263	0.021	T	0.07578	-1.0765	10	0.17832	T	0.49	-21.4263	15.5049	0.75731	0.0:0.0:0.8601:0.1399	.	333	Q8HWS3	RFX6_HUMAN	S	333	ENSP00000332208:A333S	ENSP00000332208:A333S	A	+	1	0	RFX6	117345917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.232000	0.95325	1.342000	0.45619	0.591000	0.81541	GCA		0.289	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		24	43	1	0	1.75199e-13	0.007291	2.26948e-13	24	43				
CEP85L	387119	broad.mit.edu	37	6	118886876	118886876	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:118886876A>G	ENST00000368491.3	-	3	1457	c.836T>C	c.(835-837)aTg>aCg	p.M279T	CEP85L_ENST00000360290.3_Missense_Mutation_p.M177T|CEP85L_ENST00000368488.5_Missense_Mutation_p.M282T|CEP85L_ENST00000392500.3_Missense_Mutation_p.M282T|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000419517.2_Missense_Mutation_p.M279T	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	279						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TTGACCAAGCATTAAATATTT	0.463																																							uc003pxz.1		NA																	0				breast(1)	1						c.(835-837)ATG>ACG		chromosome 6 open reading frame 204 isoform a							105.0	103.0	103.0					6																	118886876		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118886876A>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.836T>C	6.37:g.118886876A>G	ENSP00000357477:p.Met279Thr					C6orf204_uc003pya.1_Missense_Mutation_p.M282T|C6orf204_uc003pyb.2_Missense_Mutation_p.M279T|C6orf204_uc011ebj.1_Missense_Mutation_p.M177T|C6orf204_uc003pyc.2_Missense_Mutation_p.M282T|C6orf204_uc011ebl.1_Missense_Mutation_p.M177T	p.M279T	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	1424	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	279					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.836T>C	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	A	6.057	0.378880	0.11466	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.21361	3.19;3.19;2.6;2.33;2.01;2.33	6.07	4.92	0.64577	.	0.567855	0.19869	N	0.104237	T	0.03390	0.0098	N	0.16478	0.41	0.20196	N	0.999926	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.40869	-0.9540	10	0.17832	T	0.49	-0.1767	6.29	0.21054	0.7238:0.1741:0.1021:0.0	.	177;282;279;282;279	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	T	279;282;282;282;177;279	ENSP00000357477:M279T;ENSP00000357474:M282T;ENSP00000392131:M282T;ENSP00000376288:M282T;ENSP00000353434:M177T;ENSP00000393317:M279T	ENSP00000353434:M177T	M	-	2	0	C6orf204	118993569	0.990000	0.36364	0.997000	0.53966	0.991000	0.79684	3.574000	0.53863	1.111000	0.41721	0.533000	0.62120	ATG		0.463	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		18	20	0	0	0	0.00499	0	18	20				
L3MBTL3	84456	broad.mit.edu	37	6	130415511	130415511	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:130415511A>T	ENST00000529410.1	+	20	2214	c.1735A>T	c.(1735-1737)Agt>Tgt	p.S579C	L3MBTL3_ENST00000361794.2_Splice_Site_p.S579C|L3MBTL3_ENST00000368136.2_Splice_Site_p.S579C|L3MBTL3_ENST00000526019.1_Splice_Site_p.S554C|L3MBTL3_ENST00000368139.2_Splice_Site_p.S554C|L3MBTL3_ENST00000533560.1_Splice_Site_p.S554C			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	579					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGGCCCTCACAGGTATGTGGT	0.403																																							uc003qbt.2		NA																	0				ovary(5)|skin(1)	6						c.(1735-1737)AGT>TGT		l(3)mbt-like 3 isoform a							70.0	64.0	66.0					6																	130415511		2203	4300	6503	SO:0001630	splice_region_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130415511A>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1736+1A>T	6.37:g.130415511A>T						L3MBTL3_uc003qbu.2_Missense_Mutation_p.S554C	p.S579C	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	18	1905	+			579					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1735A>T	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931976	0.52866	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	6.05	6.05	0.98169	.	0.125158	0.64402	D	0.000001	T	0.55049	0.1896	L	0.49126	1.545	0.80722	D	1	D;B	0.89917	1.0;0.051	D;B	0.85130	0.997;0.042	T	0.59032	-0.7530	10	0.59425	D	0.04	.	14.1225	0.65198	1.0:0.0:0.0:0.0	.	554;579	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	C	579;554;579;554;554;579	ENSP00000431962:S579C;ENSP00000437185:S554C;ENSP00000354526:S579C;ENSP00000357121:S554C;ENSP00000436706:S554C;ENSP00000357118:S579C	ENSP00000354526:S579C	S	+	1	0	L3MBTL3	130457204	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.106000	0.77039	2.311000	0.77944	0.528000	0.53228	AGT		0.403	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074	Missense_Mutation	33	2	0	0	0	0.002836	0	33	2				
MAP7	9053	broad.mit.edu	37	6	136687148	136687148	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:136687148G>A	ENST00000354570.3	-	10	1408	c.998C>T	c.(997-999)tCc>tTc	p.S333F	MAP7_ENST00000454590.1_Missense_Mutation_p.S355F|MAP7_ENST00000438100.2_Missense_Mutation_p.S318F|MAP7_ENST00000544465.1_Missense_Mutation_p.S318F|MAP7_ENST00000432797.2_Missense_Mutation_p.S187F|RP3-406A7.3_ENST00000571188.1_RNA	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	333	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AAGAGACTTGGACGGAAGCCT	0.572																																							uc003qgz.2		NA																	0					0						c.(997-999)TCC>TTC		microtubule-associated protein 7							50.0	46.0	48.0					6																	136687148		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136687148G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.998C>T	6.37:g.136687148G>A	ENSP00000346581:p.Ser333Phe					MAP7_uc011edf.1_Missense_Mutation_p.S318F|MAP7_uc011edg.1_Missense_Mutation_p.S363F|MAP7_uc010kgu.2_Missense_Mutation_p.S355F|MAP7_uc011edh.1_Missense_Mutation_p.S318F|MAP7_uc010kgv.2_Missense_Mutation_p.S355F|MAP7_uc010kgs.2_Missense_Mutation_p.S187F|MAP7_uc011edi.1_Missense_Mutation_p.S187F|MAP7_uc010kgq.1_Missense_Mutation_p.S239F|MAP7_uc003qha.1_Missense_Mutation_p.S296F|MAP7_uc010kgr.2_Missense_Mutation_p.S187F	p.S333F	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	10	1244	-	Colorectal(23;0.24)		333			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.998C>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565758	0.27915	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.8	4.92	0.64577	.	0.000000	0.56097	D	0.000024	T	0.25195	0.0612	M	0.80847	2.515	0.53005	D	0.999965	D;D;D;D;D;D;D	0.63046	0.986;0.961;0.992;0.961;0.977;0.992;0.986	P;P;P;P;P;P;P	0.58172	0.687;0.556;0.742;0.556;0.742;0.834;0.687	T	0.09751	-1.0660	10	0.87932	D	0	-8.1258	15.273	0.73720	0.0:0.1395:0.8604:0.0	.	318;355;318;355;239;296;333	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	F	333;355;318;318;187;239	ENSP00000346581:S333F;ENSP00000414712:S355F;ENSP00000445737:S318F;ENSP00000400790:S318F;ENSP00000414879:S187F	ENSP00000344217:S239F	S	-	2	0	MAP7	136728841	1.000000	0.71417	0.994000	0.49952	0.086000	0.17979	4.282000	0.58971	1.437000	0.47472	-0.182000	0.12963	TCC		0.572	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		21	7	0	0	0	0.008871	0	21	7				
IFNGR1	3459	broad.mit.edu	37	6	137519525	137519525	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:137519525C>G	ENST00000367739.4	-	7	1234	c.1113G>C	c.(1111-1113)ctG>ctC	p.L371L	IFNGR1_ENST00000543628.1_Silent_p.L343L	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	371					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTATTGGAGTCAGATGGCTGC	0.428																																							uc003qho.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1111-1113)CTG>CTC		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						122.0	123.0	122.0					6																	137519525		2203	4300	6503	SO:0001819	synonymous_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519525C>G		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1113G>C	6.37:g.137519525C>G						IFNGR1_uc011edm.1_Silent_p.L343L	p.L371L	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1216	-	Colorectal(23;0.24)		371			Cytoplasmic (Potential).		B4DFT7|E1P587|Q53Y96	Silent	SNP	ENST00000367739.4	37	c.1113G>C	CCDS5185.1																																																																																				0.428	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			31	73	0	0	0	0.002445	0	31	73				
CCDC28A	25901	broad.mit.edu	37	6	139094885	139094885	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:139094885T>A	ENST00000332797.6	+	1	229	c.74T>A	c.(73-75)cTg>cAg	p.L25Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	25										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCATGGAGGCTGTACCTCTTA	0.622																																							uc003qie.2		NA																	0					0						c.(73-75)CTG>CAG		coiled-coil domain containing 28A							89.0	104.0	99.0					6																	139094885		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139094885T>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.74T>A	6.37:g.139094885T>A	ENSP00000332716:p.Leu25Gln					uc003qid.1_5'Flank	p.L25Q	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	229	+			25					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.74T>A	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045305	0.36085	.	.	ENSG00000024862	ENST00000332797	T	0.25912	1.77	5.35	-5.86	0.02304	.	2.532740	0.02138	N	0.056941	T	0.05868	0.0153	L	0.36672	1.1	0.09310	N	1	B	0.29716	0.255	B	0.30782	0.12	T	0.18808	-1.0325	10	0.52906	T	0.07	0.365	1.7351	0.02940	0.2148:0.3691:0.1183:0.2979	.	25	Q8IWP9	CC28A_HUMAN	Q	25	ENSP00000332716:L25Q	ENSP00000332716:L25Q	L	+	2	0	CCDC28A	139136578	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.831000	0.01698	-1.148000	0.02847	-1.139000	0.01908	CTG		0.622	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		109	36	0	0	0	0.00361	0	109	36				
REPS1	85021	broad.mit.edu	37	6	139226204	139226204	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:139226204T>C	ENST00000450536.2	-	20	2962	c.2388A>G	c.(2386-2388)ctA>ctG	p.L796L	REPS1_ENST00000409812.2_Silent_p.L705L|REPS1_ENST00000258062.5_Silent_p.L795L|REPS1_ENST00000367663.4_Silent_p.L769L|REPS1_ENST00000415951.2_Silent_p.L737L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	796	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATTGGCTTATAGGTGAGAGA	0.398																																							uc003qii.2		NA																	0				lung(1)|breast(1)	2						c.(2386-2388)CTA>CTG		RALBP1 associated Eps domain containing 1							95.0	86.0	89.0					6																	139226204		2203	4300	6503	SO:0001819	synonymous_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139226204T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2388A>G	6.37:g.139226204T>C						REPS1_uc003qig.3_Silent_p.L769L|REPS1_uc011edr.1_Silent_p.L795L|REPS1_uc003qij.2_Silent_p.L705L|REPS1_uc003qik.2_Silent_p.L402L	p.L796L	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	20	2967	-			796			Interaction with RALBP1 (By similarity).		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Silent	SNP	ENST00000450536.2	37	c.2388A>G		.	.	.	.	.	.	.	.	.	.	T	13.61	2.287223	0.40494	.	.	ENSG00000135597	ENST00000478483	.	.	.	5.87	3.4	0.38934	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37244	-0.9714	4	.	.	.	.	9.0941	0.36629	0.1105:0.0:0.3947:0.4947	.	.	.	.	V	140	.	.	I	-	1	0	REPS1	139267897	0.983000	0.35010	1.000000	0.80357	0.999000	0.98932	0.075000	0.14686	0.520000	0.28426	0.533000	0.62120	ATA		0.398	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			13	5	0	0	0	0.001855	0	13	5				
SASH1	23328	broad.mit.edu	37	6	148852668	148852668	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:148852668G>T	ENST00000367467.3	+	13	1910	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	479					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCAGGACTCGGGCCTTGATGG	0.522																																							uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(1435-1437)GGC>TGC		SAM and SH3 domain containing 1							74.0	69.0	71.0					6																	148852668		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148852668G>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1435G>T	6.37:g.148852668G>T	ENSP00000356437:p.Gly479Cys					SASH1_uc011eeb.1_Missense_Mutation_p.G240C|SASH1_uc003qmf.1_Intron	p.G479C	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	13	1910	+		Ovarian(120;0.0169)	479					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1435G>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520007	0.64634	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.45276	0.9	5.43	2.2	0.27929	.	0.174920	0.64402	D	0.000010	T	0.11324	0.0276	N	0.22421	0.69	0.35342	D	0.786547	B;B	0.17038	0.02;0.02	B;B	0.23018	0.027;0.043	T	0.03981	-1.0987	10	0.56958	D	0.05	-8.9761	3.5242	0.07753	0.3272:0.0:0.485:0.1878	.	460;479	Q6P4R9;O94885	.;SASH1_HUMAN	C	479;240	ENSP00000356437:G479C	ENSP00000356437:G479C	G	+	1	0	SASH1	148894361	1.000000	0.71417	0.054000	0.19295	0.039000	0.13416	4.240000	0.58701	0.661000	0.30985	0.655000	0.94253	GGC		0.522	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		43	7	1	0	2.01872e-29	0.00361	3.34263e-29	43	7				
TIAM2	26230	broad.mit.edu	37	6	155498024	155498024	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:155498024T>C	ENST00000461783.3	+	12	3709	c.2436T>C	c.(2434-2436)acT>acC	p.T812T	TIAM2_ENST00000318981.5_Silent_p.T812T|TIAM2_ENST00000367174.2_Silent_p.T188T|TIAM2_ENST00000529824.2_Silent_p.T812T|TIAM2_ENST00000456144.1_Silent_p.T812T|TIAM2_ENST00000360366.4_Silent_p.T836T|TIAM2_ENST00000456877.2_Silent_p.T124T|TIAM2_ENST00000528391.2_Silent_p.T148T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	812	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAATCCAGACTTATGTCCACT	0.428																																							uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(2434-2436)ACT>ACC		T-cell lymphoma invasion and metastasis 2							179.0	155.0	163.0					6																	155498024		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155498024T>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2436T>C	6.37:g.155498024T>C						TIAM2_uc003qqe.2_Silent_p.T812T|TIAM2_uc010kjj.2_Silent_p.T345T|TIAM2_uc003qqf.2_Silent_p.T188T|TIAM2_uc011efl.1_Silent_p.T148T|TIAM2_uc003qqg.2_Silent_p.T124T	p.T812T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	12	3709	+		Ovarian(120;0.196)	812			RBD.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.2436T>C	CCDS34558.1																																																																																				0.428	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		23	17	0	0	0	0.00278	0	23	17				
ACAT2	39	broad.mit.edu	37	6	160183048	160183048	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:160183048C>A	ENST00000367048.4	+	0	1689				SOD2_ENST00000535372.1_5'UTR|ACAT2_ENST00000541436.1_5'Flank|SOD2_ENST00000546087.1_5'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCGCGGCAGGCCTGTGGGCTG	0.697																																							uc003qsp.2		NA																	0					NA						c.(121-123)GGC>GTC		Homo sapiens cDNA clone IMAGE:5287966.							44.0	54.0	51.0					6																	160183048		692	1591	2283			0							g.chr6:160183048C>A	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.-72C>A	6.37:g.160183048C>A						ACAT2_uc010kjy.2_5'UTR|ACAT2_uc011efw.1_5'Flank	p.G41V							1	317	-								B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	c.122G>T	CCDS5268.1																																																																																				0.697	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		11	1	1	0	9.70103e-10	0.008291	1.17042e-09	11	1				
PLG	5340	broad.mit.edu	37	6	161173271	161173271	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:161173271C>T	ENST00000308192.9	+	18	2313	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	750	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCATTTGGCCGGAGGCACTG	0.502																																							uc003qtm.3		NA																	0		p.A750V(1)		skin(3)|ovary(1)	4						c.(2248-2250)GCC>GCT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						80.0	79.0	79.0					6																	161173271		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161173271C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2250C>T	6.37:g.161173271C>T							p.A750A	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	18	2313	+			750			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.2250C>T	CCDS5279.1																																																																																				0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		19	35	0	0	0	0.007413	0	19	35				
PARK2	5071	broad.mit.edu	37	6	161970005	161970005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:161970005C>A	ENST00000366898.1	-	9	1066	c.964G>T	c.(964-966)Gag>Tag	p.E322*	PARK2_ENST00000366892.1_Nonsense_Mutation_p.E322*|PARK2_ENST00000366894.1_Nonsense_Mutation_p.E131*|PARK2_ENST00000366897.1_Nonsense_Mutation_p.E294*|PARK2_ENST00000366896.1_Nonsense_Mutation_p.E173*|PARK2_ENST00000338468.3_Nonsense_Mutation_p.E131*	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	322					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AGGACACACTCCTCTGCACCA	0.572																																							uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(964-966)GAG>TAG		parkin isoform 1							69.0	59.0	62.0					6																	161970005		2203	4300	6503	SO:0001587	stop_gained	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161970005C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.964G>T	6.37:g.161970005C>A	ENSP00000355865:p.Glu322*					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Nonsense_Mutation_p.E131*|PARK2_uc003qtw.3_Nonsense_Mutation_p.E131*|PARK2_uc003qty.3_Nonsense_Mutation_p.E294*|PARK2_uc003qtz.3_Nonsense_Mutation_p.E173*|PARK2_uc010kke.1_Nonsense_Mutation_p.E341*|PARK2_uc011egf.1_5'UTR	p.E322*	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1098	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	322			IBR-type.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Nonsense_Mutation	SNP	ENST00000366898.1	37	c.964G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484276	0.84854	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.0673	0.89395	0.0:1.0:0.0:0.0	.	.	.	.	X	322;294;173;131;131;131;322	.	ENSP00000343589:E131X	E	-	1	0	PARK2	161889995	1.000000	0.71417	0.695000	0.30226	0.194000	0.23727	6.165000	0.71891	2.689000	0.91719	0.650000	0.86243	GAG		0.572	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			14	37	1	0	9.05144e-12	0.001855	1.14042e-11	14	37				
TTLL2	83887	broad.mit.edu	37	6	167754848	167754848	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:167754848A>C	ENST00000239587.5	+	3	1548	c.1460A>C	c.(1459-1461)cAg>cCg	p.Q487P		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	487					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTGCCTCCCAGCTGGAAGGA	0.517																																							uc003qvs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1459-1461)CAG>CCG		tubulin tyrosine ligase-like family, member 2							109.0	96.0	101.0					6																	167754848		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754848A>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1460A>C	6.37:g.167754848A>C	ENSP00000239587:p.Gln487Pro					TTLL2_uc011egr.1_RNA	p.Q487P	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1548	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	487					B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.1460A>C	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	9.363	1.068532	0.20067	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02812	4.15	3.85	-2.61	0.06171	.	0.871844	0.09821	N	0.751420	T	0.00637	0.0021	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47674	-0.9099	10	0.45353	T	0.12	.	1.2541	0.01988	0.3647:0.2771:0.0874:0.2708	.	487	Q9BWV7	TTLL2_HUMAN	P	487;414	ENSP00000239587:Q487P	ENSP00000239587:Q487P	Q	+	2	0	TTLL2	167674838	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.327000	0.19663	-0.165000	0.10908	0.402000	0.26972	CAG		0.517	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		17	27	0	0	0	0.00499	0	17	27				
WDR27	253769	broad.mit.edu	37	6	170033143	170033143	+	Missense_Mutation	SNP	C	C	T	rs201209063		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:170033143C>T	ENST00000448612.1	-	21	2232	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	WDR27_ENST00000333572.6_Missense_Mutation_p.R708Q|WDR27_ENST00000423258.1_Missense_Mutation_p.R581Q|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	678						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GGTCCTGTTCCGGCCAGCTGC	0.522																																							uc003qwx.2		NA																	0				pancreas(1)	1						c.(2122-2124)CGG>CAG		RecName: Full=WD repeat-containing protein 27;		C	GLN/ARG,GLN/ARG	5,3977		0,5,1986	56.0	57.0	57.0		1742,2123	4.1	0.0	6		57	0,8312		0,0,4156	yes	missense,missense	WDR27	NM_001202550.1,NM_182552.4	43,43	0,5,6142	TT,TC,CC		0.0,0.1256,0.0407	probably-damaging,probably-damaging	581/731,708/896	170033143	5,12289	1991	4156	6147	SO:0001583	missense	253769							g.chr6:170033143C>T	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2123G>A	6.37:g.170033143C>T	ENSP00000416289:p.Arg708Gln					WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.R708Q|WDR27_uc003qwy.2_Missense_Mutation_p.R581Q	p.R708Q			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	21	2643	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	678			WD 7.		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.2123G>A	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233546	0.39498	0.001256	0.0	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.39787	5.01;1.06;5.01	5.04	4.11	0.48088	.	0.311159	0.28109	N	0.016567	T	0.46718	0.1407	M	0.66939	2.045	0.32973	D	0.522657	D;D;D	0.89917	0.991;1.0;0.978	P;D;P	0.83275	0.464;0.996;0.543	T	0.38457	-0.9660	10	0.14252	T	0.57	-18.3968	13.8352	0.63404	0.0:0.8455:0.1545:0.0	.	708;581;708	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	Q	708;708;581	ENSP00000416289:R708Q;ENSP00000330265:R708Q;ENSP00000397869:R581Q	ENSP00000330265:R708Q	R	-	2	0	WDR27	169775068	0.996000	0.38824	0.007000	0.13788	0.097000	0.18754	2.327000	0.43858	2.321000	0.78463	0.650000	0.86243	CGG		0.522	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		15	2	0	0	0	0.003163	0	15	2				
INTS1	26173	broad.mit.edu	37	7	1523719	1523719	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:1523719G>A	ENST00000404767.3	-	25	3434	c.3349C>T	c.(3349-3351)Ctg>Ttg	p.L1117L	INTS1_ENST00000389470.4_Silent_p.L1279L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1117					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGAGCGCTCAGCACGGCGTCC	0.652																																							uc003skn.2		NA																	0					0						c.(3349-3351)CTG>TTG		integrator complex subunit 1							82.0	93.0	89.0					7																	1523719		2165	4251	6416	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1523719G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3349C>T	7.37:g.1523719G>A						INTS1_uc003skp.1_Silent_p.L464L	p.L1117L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	25	3450	-		Ovarian(82;0.0253)	1117					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.3349C>T	CCDS47526.1																																																																																				0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			69	8	0	0	0	0.00361	0	69	8				
SDK1	221935	broad.mit.edu	37	7	3991467	3991467	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:3991467G>T	ENST00000404826.2	+	7	1204	c.1065G>T	c.(1063-1065)gcG>gcT	p.A355A	SDK1_ENST00000389531.3_Silent_p.A355A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	355	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGACGTCCGCGGACACCGGGC	0.612																																							uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1063-1065)GCG>GCT		sidekick 1 precursor							58.0	56.0	56.0					7																	3991467		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3991467G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1065G>T	7.37:g.3991467G>T							p.A355A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1204	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	355			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1065G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	0.606	-0.826953	0.02734	.	.	ENSG00000146555	ENST00000426596	.	.	.	4.87	-9.74	0.00509	.	.	.	.	.	T	0.33469	0.0864	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50491	-0.8822	4	.	.	.	.	1.5367	0.02547	0.1818:0.2327:0.3406:0.2449	.	.	.	.	L	74	.	.	R	+	2	0	SDK1	3957993	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-4.259000	0.00264	-4.139000	0.00070	-1.492000	0.00969	CGG		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		45	10	1	0	1.00776e-21	0.00361	1.52623e-21	45	10				
SDK1	221935	broad.mit.edu	37	7	4249774	4249774	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:4249774A>T	ENST00000404826.2	+	38	5658	c.5519A>T	c.(5518-5520)gAg>gTg	p.E1840V	SDK1_ENST00000389531.3_Missense_Mutation_p.E1820V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1840	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGGTGTACGAGCCCTTGGCC	0.642																																							uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(5518-5520)GAG>GTG		sidekick 1 precursor							32.0	32.0	32.0					7																	4249774		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4249774A>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5519A>T	7.37:g.4249774A>T	ENSP00000385899:p.Glu1840Val					SDK1_uc010kso.2_Missense_Mutation_p.E1096V|SDK1_uc003smy.2_Missense_Mutation_p.E327V	p.E1840V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	38	5658	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1840			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5519A>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385009	0.82792	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.53423	0.62;0.62	5.11	5.11	0.69529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.64068	0.2565	L	0.54323	1.7	0.53688	D	0.999978	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.988;0.991;0.982	T	0.67635	-0.5620	10	0.87932	D	0	.	14.9203	0.70832	1.0:0.0:0.0:0.0	.	1820;327;1840	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	V	1840;88;1820	ENSP00000385899:E1840V;ENSP00000374182:E1820V	ENSP00000374182:E1820V	E	+	2	0	SDK1	4216300	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	8.857000	0.92250	1.935000	0.56089	0.533000	0.62120	GAG		0.642	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		37	4	0	0	0	0.004289	0	37	4				
MEOX2	4223	broad.mit.edu	37	7	15725606	15725606	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:15725606C>T	ENST00000262041.5	-	1	831	c.422G>A	c.(421-423)gGg>gAg	p.G141E	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	141					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCACGCGGCCCCAGTCGGGGT	0.697																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(421-423)GGG>GAG		mesenchyme homeobox 2							23.0	28.0	26.0					7																	15725606		2185	4270	6455	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725606C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.422G>A	7.37:g.15725606C>T	ENSP00000262041:p.Gly141Glu					MEOX2_uc011jxw.1_Missense_Mutation_p.G141E	p.G141E	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	703	-			141					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.422G>A	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572897	0.86542	.	.	ENSG00000106511	ENST00000262041	D	0.90444	-2.67	5.43	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	L	0.50333	1.59	0.58432	D	0.999999	D	0.54047	0.964	P	0.52672	0.706	D	0.87197	0.2238	10	0.13470	T	0.59	-15.2683	15.6318	0.76917	0.0:0.8626:0.1374:0.0	.	141	P50222	MEOX2_HUMAN	E	141	ENSP00000262041:G141E	ENSP00000262041:G141E	G	-	2	0	MEOX2	15692131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.168000	0.64978	2.533000	0.85409	0.655000	0.94253	GGG		0.697	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		75	34	0	0	0	0.00361	0	75	34				
HDAC9	9734	broad.mit.edu	37	7	19015535	19015535	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:19015535A>T	ENST00000441542.2	+	24	3129	c.3129A>T	c.(3127-3129)ctA>ctT	p.L1043L	HDAC9_ENST00000401921.1_Silent_p.L999L|HDAC9_ENST00000406451.4_Silent_p.L1040L	NM_178425.2	NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGCCTCCCTAACAGTGGATG	0.537																																							uc003sui.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(3127-3129)CTA>CTT		histone deacetylase 9 isoform 5	Valproic Acid(DB00313)						89.0	96.0	94.0					7																	19015535		2074	4207	6281	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:19015535A>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000441542.2:c.3129A>T	7.37:g.19015535A>T						HDAC9_uc003sue.2_Silent_p.L1040L|HDAC9_uc003suj.2_Silent_p.L999L|HDAC9_uc003suk.2_Silent_p.L288L	p.L1043L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN			24	3170	+	all_lung(11;0.187)		Error:Variant_position_missing_in_Q9UKV0_after_alignment					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000441542.2	37	c.3129A>T	CCDS47553.1																																																																																				0.537	HDAC9-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376088.1			30	19	0	0	0	0.009535	0	30	19				
ABCB5	340273	broad.mit.edu	37	7	20782625	20782625	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:20782625G>A	ENST00000404938.2	+	25	3802	c.3150G>A	c.(3148-3150)ggG>ggA	p.G1050G	ABCB5_ENST00000258738.6_Silent_p.G605G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1050	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CATTTGTGGGGAGCAGCGGCT	0.478																																							uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1813-1815)GGG>GGA		ATP-binding cassette, sub-family B, member 5							116.0	104.0	108.0					7																	20782625		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782625G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3150G>A	7.37:g.20782625G>A						ABCB5_uc010kuh.2_Silent_p.G1050G	p.G605G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			16	2361	+			605			ATP (Potential).|Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.1815G>A	CCDS55090.1																																																																																				0.478	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		13	37	0	0	0	0.001368	0	13	37				
DNAH11	8701	broad.mit.edu	37	7	21784174	21784174	+	Nonsense_Mutation	SNP	T	T	A	rs368233591		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:21784174T>A	ENST00000409508.3	+	50	8304	c.8273T>A	c.(8272-8274)tTg>tAg	p.L2758*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.L2765*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2765					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTGTGATTTGTTTCAGAGA	0.378									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(8293-8295)TTG>TAG		dynein, axonemal, heavy chain 11							110.0	108.0	108.0					7																	21784174		1850	4100	5950	SO:0001587	stop_gained	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21784174T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8273T>A	7.37:g.21784174T>A	ENSP00000475939:p.Leu2758*						p.L2765*	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			51	8325	+			2765					Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.8294T>A		.	.	.	.	.	.	.	.	.	.	T	50	17.035849	0.99877	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.91	4.75	0.60458	.	0.137214	0.49305	D	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	11.8337	0.52309	0.0:0.068:0.0:0.932	.	.	.	.	X	2765	.	ENSP00000330671:L2765X	L	+	2	0	DNAH11	21750699	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	2.931000	0.48932	1.056000	0.40484	0.533000	0.62120	TTG		0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		40	106	0	0	0	0.00623	0	40	106				
DNAH11	8701	broad.mit.edu	37	7	21827194	21827194	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:21827194T>A	ENST00000409508.3	+	60	9948	c.9917T>A	c.(9916-9918)tTc>tAc	p.F3306Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.F3313Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3313	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATCATTAAATTCTATGAGGTA	0.388									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(9937-9939)TTC>TAC		dynein, axonemal, heavy chain 11							55.0	51.0	52.0					7																	21827194		1865	4105	5970	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21827194T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9917T>A	7.37:g.21827194T>A	ENSP00000475939:p.Phe3306Tyr						p.F3313Y	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			61	9969	+			3313			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9938T>A		.	.	.	.	.	.	.	.	.	.	T	14.89	2.671685	0.47781	.	.	ENSG00000105877	ENST00000328843	T	0.79940	-1.32	5.74	5.74	0.90152	Dynein heavy chain, coiled coil stalk (1);	0.172377	0.56097	D	0.000036	T	0.62122	0.2402	.	.	.	0.48571	D	0.999678	B	0.21225	0.053	B	0.27796	0.083	T	0.57860	-0.7738	9	0.02654	T	1	.	10.8849	0.46962	0.1405:0.0:0.0:0.8595	.	3313	Q96DT5	DYH11_HUMAN	Y	3313	ENSP00000330671:F3313Y	ENSP00000330671:F3313Y	F	+	2	0	DNAH11	21793719	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	1.845000	0.39279	2.188000	0.69820	0.460000	0.39030	TTC		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	11	0	0	0	0.003163	0	15	11				
DNAH11	8701	broad.mit.edu	37	7	21901563	21901563	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:21901563C>G	ENST00000409508.3	+	69	11326	c.11295C>G	c.(11293-11295)acC>acG	p.T3765T	DNAH11_ENST00000328843.6_Silent_p.T3772T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3772			S -> P (in dbSNP:rs17145720). {ECO:0000269|PubMed:12142464}.		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAGCATCACCCATGCTGTCT	0.517									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(11314-11316)ACC>ACG		dynein, axonemal, heavy chain 11							62.0	64.0	64.0					7																	21901563		2048	4222	6270	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21901563C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11295C>G	7.37:g.21901563C>G							p.T3772T	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			70	11347	+			3772					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.11316C>G		.	.	.	.	.	.	.	.	.	.	C	0.473	-0.883542	0.02530	.	.	ENSG00000105877	ENST00000421290	.	.	.	5.74	-0.93	0.10441	.	.	.	.	.	T	0.40372	0.1114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23476	-1.0187	4	.	.	.	.	1.7801	0.03030	0.323:0.2365:0.298:0.1424	.	.	.	.	A	160	.	.	P	+	1	0	DNAH11	21868088	0.016000	0.18221	0.123000	0.21794	0.042000	0.13812	-0.107000	0.10873	-0.159000	0.11021	0.655000	0.94253	CCA		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	30	0	0	0	0.008291	0	10	30				
CREB5	9586	broad.mit.edu	37	7	28857757	28857757	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:28857757C>A	ENST00000357727.2	+	10	1714	c.1324C>A	c.(1324-1326)Cca>Aca	p.P442T	CREB5_ENST00000409603.1_Missense_Mutation_p.P409T|CREB5_ENST00000396299.2_Missense_Mutation_p.P409T|CREB5_ENST00000396300.2_Missense_Mutation_p.P435T|CREB5_ENST00000396298.2_Missense_Mutation_p.P303T	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	442					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TAAAGACTGCCCAATAACAGC	0.358																																							uc003szq.2		NA																	0				skin(2)	2						c.(1324-1326)CCA>ACA		cAMP responsive element binding protein 5							128.0	124.0	126.0					7																	28857757		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28857757C>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1324C>A	7.37:g.28857757C>A	ENSP00000350359:p.Pro442Thr					CREB5_uc003szo.2_Missense_Mutation_p.P409T|CREB5_uc003szr.2_Missense_Mutation_p.P435T|CREB5_uc003szs.2_Missense_Mutation_p.P303T	p.P442T	NM_182898	NP_878901	Q02930	CREB5_HUMAN			10	1714	+			442					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1324C>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937818	0.92526	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298;ENST00000498316	T;T;T;T;T	0.69175	-0.36;-0.36;-0.35;-0.36;-0.38	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.81148	0.4762	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.80482	-0.1363	10	0.87932	D	0	-12.5112	20.8598	0.99761	0.0:1.0:0.0:0.0	.	303;442	B4DU13;Q02930	.;CREB5_HUMAN	T	409;442;435;409;303;24	ENSP00000379593:P409T;ENSP00000350359:P442T;ENSP00000379594:P435T;ENSP00000387197:P409T;ENSP00000379592:P303T	ENSP00000350359:P442T	P	+	1	0	CREB5	28824282	1.000000	0.71417	0.950000	0.38849	0.957000	0.61999	7.677000	0.84024	2.937000	0.99478	0.650000	0.86243	CCA		0.358	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		62	37	1	0	7.577e-32	0.00361	1.28094e-31	62	37				
CHN2	1124	broad.mit.edu	37	7	29539621	29539621	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:29539621T>A	ENST00000222792.6	+	9	1408	c.878T>A	c.(877-879)gTg>gAg	p.V293E	CHN2_ENST00000424025.2_Missense_Mutation_p.V112E|CHN2_ENST00000409041.4_Missense_Mutation_p.V157E|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.V368E|CHN2_ENST00000495789.2_Missense_Mutation_p.V306E|CHN2_ENST00000539389.1_Missense_Mutation_p.V149E|CHN2_ENST00000439711.2_Missense_Mutation_p.V157E|CHN2_ENST00000546235.1_Missense_Mutation_p.V278E|CHN2_ENST00000435288.2_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	293	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGACCCATGGTGGTAGACATA	0.383																																					Ovarian(1;44 48 13232 18918 31480)	Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NA																	0				ovary(2)	2						c.(877-879)GTG>GAG		beta chimerin isoform 2							84.0	75.0	78.0					7																	29539621		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29539621T>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.878T>A	7.37:g.29539621T>A	ENSP00000222792:p.Val293Glu					CHN2_uc011jzs.1_Missense_Mutation_p.V368E|CHN2_uc010kva.2_Missense_Mutation_p.V63E|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.V258E|CHN2_uc011jzt.1_Missense_Mutation_p.V306E|CHN2_uc010kvd.2_Missense_Mutation_p.V149E|CHN2_uc011jzu.1_Missense_Mutation_p.V278E|CHN2_uc010kvg.2_Missense_Mutation_p.V157E|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.V157E|CHN2_uc010kve.2_Missense_Mutation_p.V157E|CHN2_uc003taa.2_Missense_Mutation_p.V157E|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.V112E|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.V112E|CHN2_uc011jzv.1_Missense_Mutation_p.V86E	p.V293E	NM_004067	NP_004058	P52757	CHIO_HUMAN			9	1315	+			293			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.878T>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557920	0.86231	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711	T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.61	5.61	0.85477	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.998;0.998;0.998;0.998;0.998;0.998;0.997;1.0;0.998;0.995;0.997;0.999;0.995	T	0.77472	-0.2575	10	0.87932	D	0	.	15.758	0.78051	0.0:0.0:0.0:1.0	.	86;278;306;368;112;112;157;157;157;149;293;63;157;293	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF7;B3VCF6;B3VCG1;A4D1A2;B3VCF8;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	E	368;293;306;149;278;118;157;112;157	ENSP00000444063:V368E;ENSP00000222792:V293E;ENSP00000438587:V306E;ENSP00000440526:V149E;ENSP00000442812:V278E;ENSP00000396867:V118E;ENSP00000386849:V157E;ENSP00000406337:V112E;ENSP00000387425:V157E	ENSP00000222792:V293E	V	+	2	0	CHN2	29506146	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.967000	0.87967	2.263000	0.75096	0.379000	0.24179	GTG		0.383	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		12	39	0	0	0	0.000978	0	12	39				
ADCYAP1R1	117	broad.mit.edu	37	7	31123758	31123758	+	Missense_Mutation	SNP	A	A	G	rs138870097		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:31123758A>G	ENST00000304166.4	+	7	620	c.331A>G	c.(331-333)Atg>Gtg	p.M111V	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.M111V|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.M90V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.M111V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	111					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGCTGCAGACATGGGAGTGGT	0.473																																					Ovarian(44;225 1186 2158 11092)	Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	0				ovary(1)	1						c.(331-333)ATG>GTG		adenylate cyclase activating polypeptide 1		A	VAL/MET,VAL/MET,VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	132.0	131.0	131.0		331,331,331,268	3.3	0.6	7	dbSNP_134	131	0,8600		0,0,4300	no	missense,missense,missense,missense	ADCYAP1R1	NM_001118.4,NM_001199635.1,NM_001199636.1,NM_001199637.1	21,21,21,21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign	111/469,111/497,111/496,90/448	31123758	1,13005	2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31123758A>G		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.331A>G	7.37:g.31123758A>G	ENSP00000306620:p.Met111Val					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.M90V|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.M111V|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.M111V|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.M111V|ADCYAP1R1_uc003tcf.1_5'Flank	p.M111V	NM_001118	NP_001109	P41586	PACR_HUMAN			7	554	+			111			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.331A>G	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	A	2.479	-0.320202	0.05386	2.27E-4	0.0	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.65	3.31	0.37934	GPCR, family 2, extracellular hormone receptor domain (3);	0.766037	0.13126	N	0.411860	T	0.51278	0.1665	L	0.47716	1.5	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.001;0.001	T	0.39231	-0.9624	10	0.31617	T	0.26	.	6.8635	0.24079	0.7406:0.0:0.2594:0.0	.	111;111;111;90;111	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	V	111;90;111;111	ENSP00000306620:M111V;ENSP00000387335:M90V;ENSP00000379514:M111V;ENSP00000386395:M111V	ENSP00000306620:M111V	M	+	1	0	ADCYAP1R1	31090283	0.069000	0.21087	0.614000	0.29051	0.530000	0.34684	0.097000	0.15168	0.434000	0.26340	0.450000	0.29827	ATG		0.473	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		68	26	0	0	0	0.00361	0	68	26				
BMPER	168667	broad.mit.edu	37	7	34091553	34091553	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:34091553T>A	ENST00000297161.2	+	9	1131	c.757T>A	c.(757-759)Tac>Aac	p.Y253N	BMPER_ENST00000426693.1_Missense_Mutation_p.Y253N|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	253	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCATTTCTGTACGATAACTG	0.473																																							uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(757-759)TAC>AAC		BMP-binding endothelial regulator precursor							200.0	174.0	183.0					7																	34091553		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34091553T>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.757T>A	7.37:g.34091553T>A	ENSP00000297161:p.Tyr253Asn						p.Y253N	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			8	871	+			253			VWFC 4.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.757T>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359408	0.24598	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64618	-0.11;-0.11	5.12	5.12	0.69794	von Willebrand factor, type C (1);	0.188934	0.48286	D	0.000184	T	0.58352	0.2116	M	0.76328	2.33	0.58432	D	0.999996	P	0.35656	0.514	B	0.30401	0.115	T	0.58702	-0.7590	10	0.12103	T	0.63	.	15.2503	0.73539	0.0:0.0:0.0:1.0	.	253	Q8N8U9	BMPER_HUMAN	N	253	ENSP00000297161:Y253N;ENSP00000393950:Y253N	ENSP00000297161:Y253N	Y	+	1	0	BMPER	34058078	0.995000	0.38212	0.905000	0.35620	0.137000	0.21094	4.263000	0.58853	2.058000	0.61347	0.533000	0.62120	TAC		0.473	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		99	58	0	0	0	0.00361	0	99	58				
ANLN	54443	broad.mit.edu	37	7	36438687	36438687	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:36438687G>T	ENST00000265748.2	+	3	393		c.e3-1		ANLN_ENST00000396068.2_Splice_Site	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein						hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTTAATGTAGAGAAATCTTG	0.338																																							uc003tff.2		NA																	0				ovary(2)|skin(1)	3						c.e3-1		anillin, actin binding protein							45.0	47.0	46.0					7																	36438687		2203	4300	6503	SO:0001630	splice_region_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36438687G>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.173-1G>T	7.37:g.36438687G>T						ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Splice_Site_p.E58_splice|ANLN_uc010kxe.2_Splice_Site_p.E58_splice	p.E58_splice	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			3	377	+								Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Splice_Site	SNP	ENST00000265748.2	37	c.173_splice	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226937	0.58668	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7048	0.96068	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANLN	36405212	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	7.492000	0.81482	2.734000	0.93682	0.655000	0.94253	.		0.338	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	Intron	15	37	1	0	1.3612e-06	0.003163	1.52348e-06	15	37				
NME8	51314	broad.mit.edu	37	7	37928015	37928015	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:37928015A>G	ENST00000199447.4	+	15	1756	c.1384A>G	c.(1384-1386)Aca>Gca	p.T462A	NME8_ENST00000440017.1_Missense_Mutation_p.T462A|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	462	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACCTCATGCAACAAGTGAACA	0.318																																						Ovarian(108;903 1537 27096 29907 47400)	uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1384-1386)ACA>GCA		thioredoxin domain containing 3							48.0	47.0	47.0					7																	37928015		2202	4299	6501	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37928015A>G	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1384A>G	7.37:g.37928015A>G	ENSP00000199447:p.Thr462Ala						p.T462A	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			15	1756	+			462			NDK 3.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1384A>G	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	0.433	-0.902513	0.02453	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.54071	0.59;0.59	4.42	-1.32	0.09201	.	0.731726	0.11815	N	0.526810	T	0.34221	0.0890	L	0.33624	1.015	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.25950	-1.0117	10	0.14656	T	0.56	-15.9622	7.7125	0.28686	0.2412:0.1217:0.0:0.6371	.	462	Q8N427	TXND3_HUMAN	A	462	ENSP00000199447:T462A;ENSP00000397063:T462A	ENSP00000199447:T462A	T	+	1	0	TXNDC3	37894540	0.000000	0.05858	0.040000	0.18447	0.409000	0.31022	-0.752000	0.04797	-0.189000	0.10482	0.460000	0.39030	ACA		0.318	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		9	20	0	0	0	0.006214	0	9	20				
INHBA	3624	broad.mit.edu	37	7	41730103	41730103	+	Missense_Mutation	SNP	C	C	A	rs151132792		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:41730103C>A	ENST00000242208.4	-	3	672	c.426G>T	c.(424-426)aaG>aaT	p.K142N	INHBA_ENST00000442711.1_Missense_Mutation_p.K142N|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	142					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.K142_E143>NK(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTGCCTTCCTTGGAAATCT	0.502										TSP Lung(11;0.080)																													uc003thq.2		NA																	1	Complex - compound substitution(1)		lung(1)	lung(5)|ovary(1)	6						c.(424-426)AAG>AAT		inhibin beta A precursor							56.0	51.0	53.0					7																	41730103		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41730103C>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.426G>T	7.37:g.41730103C>A	ENSP00000242208:p.Lys142Asn	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.K142N	p.K142N	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	661	-			142					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.426G>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	14.70	2.612208	0.46631	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64260	-0.09;-0.09	6.06	2.6	0.31112	Transforming growth factor-beta, N-terminal (1);	0.047867	0.85682	D	0.000000	T	0.58892	0.2154	N	0.24115	0.695	0.58432	D	0.999994	D	0.71674	0.998	D	0.69824	0.966	T	0.52442	-0.8575	10	0.13108	T	0.6	-19.536	8.3046	0.32034	0.0:0.562:0.0:0.438	.	142	P08476	INHBA_HUMAN	N	142	ENSP00000242208:K142N;ENSP00000397197:K142N	ENSP00000242208:K142N	K	-	3	2	INHBA	41696628	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.152000	0.42272	0.752000	0.32923	0.655000	0.94253	AAG		0.502	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			17	31	1	0	3.41278e-10	0.00499	4.16424e-10	17	31				
HECW1	23072	broad.mit.edu	37	7	43484767	43484767	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:43484767G>A	ENST00000395891.2	+	11	2601	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R	HECW1_ENST00000453890.1_Missense_Mutation_p.G666R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	666					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGGCAAGGCGGGGACCACAG	0.692																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1996-1998)GGG>AGG		NEDD4-like ubiquitin-protein ligase 1							23.0	29.0	27.0					7																	43484767		2146	4232	6378	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484767G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1996G>A	7.37:g.43484767G>A	ENSP00000379228:p.Gly666Arg					HECW1_uc011kbi.1_Missense_Mutation_p.G666R	p.G666R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2601	+			666					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1996G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660477	0.67586	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34472	1.36;1.38	4.11	3.17	0.36434	.	9.429510	0.00166	N	0.000000	T	0.41119	0.1145	L	0.36672	1.1	0.41086	D	0.985561	D;B	0.57257	0.979;0.159	P;B	0.45119	0.47;0.039	T	0.49542	-0.8929	10	0.66056	D	0.02	.	15.1442	0.72637	0.0:0.1547:0.8453:0.0	.	666;666	B4DH42;Q76N89	.;HECW1_HUMAN	R	666	ENSP00000379228:G666R;ENSP00000407774:G666R	ENSP00000265522:G666R	G	+	1	0	HECW1	43451292	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	5.076000	0.64413	2.109000	0.64355	0.563000	0.77884	GGG		0.692	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		29	17	0	0	0	0.008361	0	29	17				
URGCP	55665	broad.mit.edu	37	7	43918044	43918044	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:43918044C>T	ENST00000453200.1	-	6	1511	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	URGCP_ENST00000447717.3_Missense_Mutation_p.D297N|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.D297N|URGCP_ENST00000402306.3_Missense_Mutation_p.D331N|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.D297N|URGCP_ENST00000443736.1_Missense_Mutation_p.D297N			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	340					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCCGATGTCACCTCTCAGG	0.453																																							uc003tiw.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1018-1020)GAC>AAC		up-regulated gene 4 isoform 3							76.0	77.0	76.0					7																	43918044		1913	4129	6042	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918044C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1018G>A	7.37:g.43918044C>T	ENSP00000396918:p.Asp340Asn					URGCP_uc003tiu.2_Missense_Mutation_p.D297N|URGCP_uc003tiv.2_Missense_Mutation_p.D265N|URGCP_uc003tix.2_Missense_Mutation_p.D331N|URGCP_uc003tiy.2_Missense_Mutation_p.D297N|URGCP_uc003tiz.2_Missense_Mutation_p.D297N|URGCP_uc011kbj.1_Missense_Mutation_p.D297N	p.D340N	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1075	-			340					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1018G>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830326	0.71258	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.20332	2.12;2.12;2.08;2.12;2.08;2.12	5.66	5.66	0.87406	.	0.049859	0.85682	D	0.000000	T	0.30262	0.0759	L	0.53561	1.675	0.41298	D	0.987023	P;P	0.52316	0.952;0.952	P;P	0.49301	0.606;0.606	T	0.01232	-1.1411	10	0.22706	T	0.39	-41.789	17.2282	0.86977	0.0:1.0:0.0:0.0	.	331;340	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	N	297;297;331;297;340;297	ENSP00000223341:D297N;ENSP00000336872:D297N;ENSP00000384955:D331N;ENSP00000392136:D297N;ENSP00000396918:D340N;ENSP00000402803:D297N	ENSP00000223341:D297N	D	-	1	0	URGCP	43884569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.625000	0.67770	2.673000	0.90976	0.591000	0.81541	GAC		0.453	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		20	73	0	0	0	0.001882	0	20	73				
PGAM2	5224	broad.mit.edu	37	7	44105093	44105093	+	Silent	SNP	G	G	C	rs369660945		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:44105093G>C	ENST00000297283.3	-	1	93	c.36C>G	c.(34-36)ggC>ggG	p.G12G	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	12					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ATGTGCTCTCGCCGTGCCGGA	0.622																																							uc003tjs.2		NA																	0					0						c.(34-36)GGC>GGG		phosphoglycerate mutase 2							85.0	69.0	75.0					7																	44105093		2203	4300	6503	SO:0001819	synonymous_variant	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44105093G>C		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.36C>G	7.37:g.44105093G>C							p.G12G	NM_000290	NP_000281	P15259	PGAM2_HUMAN			1	71	-			12						Silent	SNP	ENST00000297283.3	37	c.36C>G	CCDS34624.1																																																																																				0.622	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			22	73	0	0	0	0.00278	0	22	73				
PKD1L1	168507	broad.mit.edu	37	7	47874766	47874766	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:47874766C>A	ENST00000289672.2	-	38	6069	c.6019G>T	c.(6019-6021)Gcc>Tcc	p.A2007S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2007					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGAGCTGGGCCCCTGGAGAA	0.602																																							uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(6019-6021)GCC>TCC		polycystin-1L1							42.0	45.0	44.0					7																	47874766		2202	4300	6502	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47874766C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6019G>T	7.37:g.47874766C>A	ENSP00000289672:p.Ala2007Ser						p.A2007S	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			38	6019	-			2007			Helical; (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6019G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965264	0.34659	.	.	ENSG00000158683	ENST00000289672	T	0.20598	2.06	4.08	3.18	0.36537	.	0.160227	0.39909	N	0.001231	T	0.34919	0.0914	M	0.61703	1.905	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.09862	-1.0655	10	0.21014	T	0.42	-15.9274	9.204	0.37278	0.2164:0.7836:0.0:0.0	.	2007	Q8TDX9	PK1L1_HUMAN	S	2007	ENSP00000289672:A2007S	ENSP00000289672:A2007S	A	-	1	0	PKD1L1	47841291	0.340000	0.24792	0.046000	0.18839	0.441000	0.31987	1.970000	0.40520	1.274000	0.44362	0.563000	0.77884	GCC		0.602	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		18	38	1	0	2.4624e-09	0.008871	2.94878e-09	18	38				
ABCA13	154664	broad.mit.edu	37	7	48443368	48443368	+	Missense_Mutation	SNP	A	A	T	rs376737193		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:48443368A>T	ENST00000435803.1	+	39	11986	c.11962A>T	c.(11962-11964)Att>Ttt	p.I3988F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3988	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCTTGGCATTGCTTTCAT	0.537																																							uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11962-11964)ATT>TTT		ATP binding cassette, sub-family A (ABC1),		A	PHE/ILE	0,4002		0,0,2001	108.0	108.0	108.0		11962	2.5	1.0	7		108	2,8324		0,2,4161	no	missense	ABCA13	NM_152701.3	21	0,2,6162	TT,TA,AA		0.024,0.0,0.0162	probably-damaging	3988/5059	48443368	2,12326	2001	4163	6164	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443368A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11962A>T	7.37:g.48443368A>T	ENSP00000411096:p.Ile3988Phe					ABCA13_uc010kys.1_Missense_Mutation_p.I1062F|ABCA13_uc003tos.1_Missense_Mutation_p.I814F|ABCA13_uc010kyt.1_RNA	p.I3988F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			39	11987	+			3988			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11962A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458031	0.63401	0.0	2.4E-4	ENSG00000179869	ENST00000435803	D	0.93547	-3.24	6.17	2.51	0.30379	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.261548	0.26863	N	0.022106	D	0.94751	0.8306	M	0.79614	2.46	0.80722	D	1	D;D	0.63880	0.993;0.975	P;P	0.59643	0.861;0.813	D	0.92714	0.6185	10	0.87932	D	0	.	6.9977	0.24793	0.7441:0.1256:0.1303:0.0	.	1690;3988	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	F	3988	ENSP00000411096:I3988F	ENSP00000411096:I3988F	I	+	1	0	ABCA13	48413914	1.000000	0.71417	0.951000	0.38953	0.011000	0.07611	4.284000	0.58983	0.195000	0.20347	0.533000	0.62120	ATT		0.537	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		13	32	0	0	0	0.001368	0	13	32				
ABCA13	154664	broad.mit.edu	37	7	48443404	48443404	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:48443404G>C	ENST00000435803.1	+	39	12022	c.11998G>C	c.(11998-12000)Gat>Cat	p.D4000H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4000	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTGGTTCTGGATGAGCCCAC	0.577																																							uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11998-12000)GAT>CAT		ATP binding cassette, sub-family A (ABC1),							79.0	81.0	80.0					7																	48443404		2015	4172	6187	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443404G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11998G>C	7.37:g.48443404G>C	ENSP00000411096:p.Asp4000His					ABCA13_uc010kys.1_Missense_Mutation_p.D1074H|ABCA13_uc003tos.1_Missense_Mutation_p.D826H|ABCA13_uc010kyt.1_RNA	p.D4000H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			39	12023	+			4000			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11998G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267417	0.95399	.	.	ENSG00000179869	ENST00000435803	D	0.99695	-6.43	6.11	6.11	0.99139	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.51477	D	0.000096	D	0.99894	0.9949	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96387	0.9286	10	0.87932	D	0	.	19.7224	0.96148	0.0:0.0:1.0:0.0	.	1702;4000	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	H	4000	ENSP00000411096:D4000H	ENSP00000411096:D4000H	D	+	1	0	ABCA13	48413950	1.000000	0.71417	0.980000	0.43619	0.943000	0.58893	9.583000	0.98217	2.906000	0.99361	0.655000	0.94253	GAT		0.577	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		21	15	0	0	0	0.001882	0	21	15				
COBL	23242	broad.mit.edu	37	7	51094361	51094361	+	Splice_Site	SNP	G	G	A	rs375317019		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:51094361G>A	ENST00000265136.7	-	11	3551	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	COBL_ENST00000395542.2_Splice_Site_p.T1211M	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1129	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.T1129M(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGTTCTGCCGTCTAGAATAT	0.557																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	1	Substitution - Missense(1)		kidney(1)	skin(3)|ovary(2)	5						c.(3385-3387)ACG>ATG		cordon-bleu homolog		G	MET/THR	0,4406		0,0,2203	127.0	113.0	118.0		3386	2.3	0.2	7		118	2,8598	2.2+/-6.3	0,2,4298	no	missense-near-splice	COBL	NM_015198.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1129/1262	51094361	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	23242							g.chr7:51094361G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3385-1C>T	7.37:g.51094361G>A						COBL_uc003tps.2_Missense_Mutation_p.T1186M|COBL_uc011kcl.1_Missense_Mutation_p.T1129M|COBL_uc003tpp.3_Missense_Mutation_p.T915M|COBL_uc003tpq.3_Missense_Mutation_p.T1070M|COBL_uc003tpo.3_Missense_Mutation_p.T671M	p.T1129M	NM_015198	NP_056013	O75128	COBL_HUMAN			11	3571	-	Glioma(55;0.08)		1129			WH2 1.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3386C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	4.368	0.067849	0.08436	0.0	2.33E-4	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.16	2.29	0.28610	Actin-binding WH2 (3);	0.494861	0.17127	N	0.185980	T	0.58623	0.2135	L	0.50333	1.59	0.22435	N	0.999104	D;B;B;B;B	0.76494	0.999;0.246;0.101;0.246;0.294	P;B;B;B;B	0.61397	0.888;0.043;0.04;0.043;0.094	T	0.47812	-0.9088	10	0.51188	T	0.08	.	7.2793	0.26302	0.3767:0.0:0.6233:0.0	.	1129;1186;1129;1211;671	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	M	1129;1021;1014;1211	ENSP00000265136:T1129M;ENSP00000401204:T1021M;ENSP00000413498:T1014M;ENSP00000378912:T1211M	ENSP00000265136:T1129M	T	-	2	0	COBL	51061855	0.035000	0.19736	0.214000	0.23707	0.008000	0.06430	0.117000	0.15583	0.157000	0.19338	-0.251000	0.11542	ACG		0.557	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	Missense_Mutation	14	242	0	0	0	0.00499	0	14	242				
EGFR	1956	broad.mit.edu	37	7	55225444	55225444	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55225444A>T	ENST00000275493.2	+	11	1473	c.1296A>T	c.(1294-1296)caA>caT	p.Q432H	EGFR_ENST00000442591.1_Missense_Mutation_p.Q432H|EGFR_ENST00000454757.2_Missense_Mutation_p.Q379H|EGFR_ENST00000455089.1_Missense_Mutation_p.Q387H|EGFR_ENST00000342916.3_Missense_Mutation_p.Q432H|EGFR_ENST00000344576.2_Missense_Mutation_p.Q432H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	432					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGACCAAGCAACAGTAAGTTG	0.473		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1294-1296)CAA>CAT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						89.0	79.0	82.0					7																	55225444		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55225444A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1296A>T	7.37:g.55225444A>T	ENSP00000275493:p.Gln432His	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.Q432H|EGFR_uc003tqj.2_Missense_Mutation_p.Q432H|EGFR_uc010kzg.1_Missense_Mutation_p.Q387H|EGFR_uc011kco.1_Missense_Mutation_p.Q379H|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	p.Q432H	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		11	1542	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		432			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1296A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847810	0.32606	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.93	-3.08	0.05347	EGF receptor, L domain (1);	0.323635	0.36482	N	0.002578	T	0.58466	0.2124	N	0.12637	0.245	0.34848	D	0.741415	B;B;B;B	0.30482	0.066;0.027;0.281;0.066	B;B;B;B	0.25405	0.013;0.013;0.06;0.025	T	0.52223	-0.8604	10	0.18710	T	0.47	.	14.3851	0.66940	0.3238:0.0:0.6762:0.0	.	387;432;432;432	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	H	387;432;302;432;432;432;379;226	ENSP00000415559:Q387H;ENSP00000342376:Q432H;ENSP00000345973:Q432H;ENSP00000275493:Q432H;ENSP00000410031:Q432H;ENSP00000395243:Q379H	ENSP00000275493:Q432H	Q	+	3	2	EGFR	55192938	0.915000	0.31059	0.993000	0.49108	0.820000	0.46376	0.208000	0.17415	-0.298000	0.08921	0.459000	0.35465	CAA		0.473	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		35	71	0	0	0	0.004878	0	35	71				
EGFR	1956	broad.mit.edu	37	7	55242491	55242491	+	Missense_Mutation	SNP	A	A	T	rs121913463|rs397517100|rs397517099		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55242491A>T	ENST00000275493.2	+	19	2438	c.2261A>T	c.(2260-2262)aAa>aTa	p.K754I	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.K701I|EGFR_ENST00000455089.1_Missense_Mutation_p.K709I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	754	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.K754R(1)|p.K754I(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.K754A(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ACATCTCCGAAAGCCAACAAG	0.493		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		39	Deletion - In frame(20)|Complex - deletion inframe(16)|Substitution - Missense(3)	p.S752_I759del(15)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.K754E(2)|p.A750_E758del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.L747_N756>SKDD(1)|p.T751_E758>A(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.K754R(1)|p.K754K(1)|p.K754A(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.S752_V769del(1)|p.L747_A755>SKS(1)	lung(37)|breast(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2260-2262)AAA>ATA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						100.0	95.0	97.0					7																	55242491		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242491A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2261A>T	7.37:g.55242491A>T	ENSP00000275493:p.Lys754Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.K709I|EGFR_uc011kco.1_Missense_Mutation_p.K701I	p.K754I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2507	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		754		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2261A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194854	0.78902	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.83419	-1.72;-1.72;-1.72	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	L	0.31371	0.925	0.48288	D	0.99962	B;P	0.49090	0.218;0.919	P;D	0.68765	0.59;0.96	D	0.87659	0.2533	10	0.87932	D	0	.	14.3314	0.66559	1.0:0.0:0.0:0.0	.	709;754	Q504U8;P00533	.;EGFR_HUMAN	I	709;624;754;701	ENSP00000415559:K709I;ENSP00000275493:K754I;ENSP00000395243:K701I	ENSP00000275493:K754I	K	+	2	0	EGFR	55209985	1.000000	0.71417	0.989000	0.46669	0.800000	0.45204	9.236000	0.95360	2.068000	0.61886	0.459000	0.35465	AAA		0.493	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		36	46	0	0	0	0.003755	0	36	46				
EGFR	1956	broad.mit.edu	37	7	55266410	55266410	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55266410G>T	ENST00000275493.2	+	23	2879	c.2702G>T	c.(2701-2703)gGg>gTg	p.G901V	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Splice_Site_p.G848V|EGFR_ENST00000455089.1_Splice_Site_p.G856V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	901	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATCCTCTCAGGGGTGACTGTT	0.468		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2701-2703)GGG>GTG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						148.0	132.0	138.0					7																	55266410		2203	4300	6503	SO:0001630	splice_region_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55266410G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2702-1G>T	7.37:g.55266410G>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.G856V|EGFR_uc011kco.1_Missense_Mutation_p.G848V	p.G901V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		23	2948	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		901			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2702G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445152	0.83993	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.87809	-2.3;-2.3;-2.3	5.13	5.13	0.70059	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98640	1.0675	9	.	.	.	.	17.5006	0.87730	0.0:0.0:1.0:0.0	.	856;901	Q504U8;P00533	.;EGFR_HUMAN	V	856;771;901;848	ENSP00000415559:G856V;ENSP00000275493:G901V;ENSP00000395243:G848V	.	G	+	2	0	EGFR	55233904	1.000000	0.71417	0.991000	0.47740	0.882000	0.50991	9.712000	0.98738	2.553000	0.86117	0.462000	0.41574	GGG		0.468	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	Missense_Mutation	20	188	1	0	3.83957e-06	0.00278	4.24813e-06	20	188				
FKBP9P1	360132	broad.mit.edu	37	7	55750498	55750498	+	RNA	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55750498G>T	ENST00000455909.1	-	0	719					NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						ATGCCACCTGGGCGTGAATGT	0.532																																							uc010kzl.2		NA																	0					0						c.(604-606)GCC>GCA		SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8);							44.0	43.0	43.0					7																	55750498		692	1590	2282			360132							g.chr7:55750498G>T																													7.37:g.55750498G>T						FKBP9L_uc010kzk.2_Silent_p.A91A|FKBP9L_uc003tqt.2_Silent_p.A91A|FKBP9L_uc011kcs.1_Silent_p.A91A	p.A202A	NR_003949						6	706	-								B2R7H1	Silent	SNP	ENST00000455909.1	37	c.606C>A																																																																																					0.532	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			39	69	1	0	6.60958e-23	0.00361	1.01694e-22	39	69				
SEPT14	346288	broad.mit.edu	37	7	55902167	55902168	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:55902167_55902168TG>CT	ENST00000388975.3	-	6	786_787	c.670_671CA>AG	c.(670-672)CAg>AGg	p.Q224R		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	224	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTTGGGAGCTGATATATCTGG	0.371																																							uc003tqz.2		NA																	0					0						c.(670-672)CAG>AGG		septin 14																																				SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55902167_55902168TG>CT	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.670_671delinsCT	7.37:g.55902167_55902168delinsCT	ENSP00000373627:p.Gln224Arg						p.Q224R	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	787_788	-	Breast(14;0.214)		224					A6NCC2|B4DXD6	Missense_Mutation	DNP	ENST00000388975.3	37	c.670_671CA>AG	CCDS5519.2																																																																																				0.371	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		23	23	0	0	0	0.004672	0	23	23				
WBSCR17	64409	broad.mit.edu	37	7	70880959	70880959	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:70880959G>T	ENST00000333538.5	+	4	1308	c.674G>T	c.(673-675)gGc>gTc	p.G225V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	225	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGAGGGAAGGCCTGATCCGC	0.562																																							uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(673-675)GGC>GTC		UDP-GalNAc:polypeptide							92.0	79.0	84.0					7																	70880959		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880959G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.674G>T	7.37:g.70880959G>T	ENSP00000329654:p.Gly225Val					WBSCR17_uc003tvz.2_5'UTR	p.G225V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			4	674	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	225			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.674G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832233	0.91036	.	.	ENSG00000185274	ENST00000333538	T	0.80304	-1.36	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96742	0.9547	10	0.87932	D	0	.	17.3775	0.87396	0.0:0.0:1.0:0.0	.	225	Q6IS24	GLTL3_HUMAN	V	225	ENSP00000329654:G225V	ENSP00000329654:G225V	G	+	2	0	WBSCR17	70518895	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.378000	0.97191	2.351000	0.79841	0.462000	0.41574	GGC		0.562	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		11	8	1	0	0.00829132	0.008291	0.00850685	11	8				
GNAT3	346562	broad.mit.edu	37	7	80091604	80091604	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:80091604G>C	ENST00000398291.3	-	7	838	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	249					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTGTTGAACAGGTGAAGGCTT	0.353																																							uc011kgu.1		NA																	0				ovary(1)	1						c.(745-747)CTG>GTG		guanine nucleotide binding protein, alpha							91.0	87.0	88.0					7																	80091604		1862	4101	5963	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091604G>C		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.745C>G	7.37:g.80091604G>C	ENSP00000381339:p.Leu249Val					CD36_uc003uhc.2_Intron	p.L249V	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			7	745	-			249					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.745C>G	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544328	0.65198	.	.	ENSG00000214415	ENST00000398291	D	0.92446	-3.04	5.03	3.24	0.37175	.	0.000000	0.64402	U	0.000004	D	0.96488	0.8854	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96185	0.9133	9	.	.	.	.	11.515	0.50515	0.1465:0.0:0.8535:0.0	.	249	A8MTJ3	GNAT3_HUMAN	V	249	ENSP00000381339:L249V	.	L	-	1	2	GNAT3	79929540	0.958000	0.32768	0.998000	0.56505	0.993000	0.82548	1.266000	0.33039	0.647000	0.30713	0.655000	0.94253	CTG		0.353	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		2	2	0	0	0	0.004672	0	2	2				
ZNF804B	219578	broad.mit.edu	37	7	88963186	88963186	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:88963186C>A	ENST00000333190.4	+	4	1499	c.890C>A	c.(889-891)tCc>tAc	p.S297Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	297							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATACCATCTCCATAAACTCT	0.353										HNSCC(36;0.09)																													uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(889-891)TCC>TAC		zinc finger protein 804B							54.0	55.0	54.0					7																	88963186		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963186C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.890C>A	7.37:g.88963186C>A	ENSP00000329638:p.Ser297Tyr	HNSCC(36;0.09)					p.S297Y	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1428	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		297					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.890C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411568	0.25465	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	5.14	4.25	0.50352	.	0.721225	0.12799	N	0.438180	T	0.10337	0.0253	L	0.57536	1.79	0.09310	N	1	P	0.45902	0.868	B	0.43052	0.406	T	0.13818	-1.0495	10	0.49607	T	0.09	-0.4733	11.2677	0.49120	0.0:0.8523:0.0:0.1477	.	297	A4D1E1	Z804B_HUMAN	Y	297	ENSP00000329638:S297Y	ENSP00000329638:S297Y	S	+	2	0	ZNF804B	88801122	0.002000	0.14202	0.013000	0.15412	0.355000	0.29361	1.713000	0.37951	1.374000	0.46228	0.655000	0.94253	TCC		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		23	9	1	0	4.26978e-12	0.00333	5.40075e-12	23	9				
ZNF804B	219578	broad.mit.edu	37	7	88963308	88963308	+	Missense_Mutation	SNP	C	C	A	rs202238926		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:88963308C>A	ENST00000333190.4	+	4	1621	c.1012C>A	c.(1012-1014)Cct>Act	p.P338T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	338							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGATTTTACTCCTACCAGCAG	0.358										HNSCC(36;0.09)																													uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1012-1014)CCT>ACT		zinc finger protein 804B							32.0	35.0	34.0					7																	88963308		2202	4294	6496	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963308C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1012C>A	7.37:g.88963308C>A	ENSP00000329638:p.Pro338Thr	HNSCC(36;0.09)					p.P338T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1550	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		338					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1012C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	2.807	-0.247871	0.05867	.	.	ENSG00000182348	ENST00000333190	T	0.04809	3.55	5.14	4.18	0.49190	.	0.503262	0.18671	N	0.134429	T	0.03827	0.0108	L	0.51422	1.61	0.09310	N	1	P	0.38922	0.651	B	0.27887	0.084	T	0.38866	-0.9641	10	0.17832	T	0.49	-6.3126	7.1425	0.25564	0.0:0.5621:0.3373:0.1006	.	338	A4D1E1	Z804B_HUMAN	T	338	ENSP00000329638:P338T	ENSP00000329638:P338T	P	+	1	0	ZNF804B	88801244	0.637000	0.27216	0.751000	0.31187	0.876000	0.50452	1.410000	0.34691	2.677000	0.91161	0.655000	0.94253	CCT		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		29	7	1	0	3.65163e-15	0.00632	4.918e-15	29	7				
SAMD9	54809	broad.mit.edu	37	7	92730661	92730661	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:92730661A>T	ENST00000379958.2	-	3	5019	c.4750T>A	c.(4750-4752)Tat>Aat	p.Y1584N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1584						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAATGTCATAAGCAAGTGGG	0.388																																							uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(4750-4752)TAT>AAT		sterile alpha motif domain containing 9							121.0	128.0	126.0					7																	92730661		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92730661A>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4750T>A	7.37:g.92730661A>T	ENSP00000369292:p.Tyr1584Asn					SAMD9_uc003umg.2_Missense_Mutation_p.Y1584N	p.Y1584N	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	5006	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1584					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4750T>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318193	0.60524	.	.	ENSG00000205413	ENST00000379958	T	0.35048	1.33	4.61	4.61	0.57282	.	0.194216	0.34531	N	0.003886	T	0.55561	0.1928	M	0.62723	1.935	0.38964	D	0.95861	D	0.76494	0.999	D	0.74023	0.982	T	0.62412	-0.6860	10	0.87932	D	0	.	13.2295	0.59933	1.0:0.0:0.0:0.0	.	1584	Q5K651	SAMD9_HUMAN	N	1584	ENSP00000369292:Y1584N	ENSP00000369292:Y1584N	Y	-	1	0	SAMD9	92568597	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.637000	0.61346	2.069000	0.61940	0.496000	0.49642	TAT		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		85	20	0	0	0	0.00361	0	85	20				
SAMD9	54809	broad.mit.edu	37	7	92734566	92734566	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:92734566T>A	ENST00000379958.2	-	3	1114	c.845A>T	c.(844-846)aAg>aTg	p.K282M		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	282						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGAATGCACTTCTTTGCTTG	0.378																																							uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(844-846)AAG>ATG		sterile alpha motif domain containing 9							142.0	140.0	141.0					7																	92734566		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92734566T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.845A>T	7.37:g.92734566T>A	ENSP00000369292:p.Lys282Met					SAMD9_uc003umg.2_Missense_Mutation_p.K282M	p.K282M	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1101	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		282					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.845A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025041	0.35701	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14144	2.53;2.53	4.34	3.19	0.36642	.	1.062270	0.07429	U	0.895433	T	0.11750	0.0286	L	0.35414	1.06	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.30880	-0.9963	10	0.59425	D	0.04	0.463	5.7857	0.18333	0.0:0.0936:0.1691:0.7373	.	282	Q5K651	SAMD9_HUMAN	M	282	ENSP00000369292:K282M;ENSP00000414529:K282M	ENSP00000369292:K282M	K	-	2	0	SAMD9	92572502	0.000000	0.05858	0.960000	0.40013	0.997000	0.91878	0.145000	0.16157	0.819000	0.34492	0.491000	0.48974	AAG		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		47	5	0	0	0	0.003214	0	47	5				
CCDC132	55610	broad.mit.edu	37	7	92905512	92905512	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:92905512A>T	ENST00000305866.5	+	12	965	c.837A>T	c.(835-837)caA>caT	p.Q279H	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Missense_Mutation_p.Q90H|CCDC132_ENST00000544910.1_Missense_Mutation_p.Q249H|CCDC132_ENST00000317751.6_Missense_Mutation_p.Q10H|CCDC132_ENST00000251739.5_Missense_Mutation_p.Q279H	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	279						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCACCCAAGCCATTCACA	0.343																																							uc003umo.2		NA																	0					0						c.(835-837)CAA>CAT		coiled-coil domain containing 132 isoform a							207.0	184.0	192.0					7																	92905512		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92905512A>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.837A>T	7.37:g.92905512A>T	ENSP00000307666:p.Gln279His					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.Q249H|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.Q279H	p.Q279H	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		12	965	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		279					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.837A>T	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.031315|4.031315	0.75504|0.75504	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000458707|ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	.|T;T;T	.|0.44881	.|1.45;1.45;0.91	5.3|5.3	2.65|2.65	0.31530|0.31530	.|Vacuolar protein sorting-associated protein 54 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46014|0.46014	0.1371|0.1371	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;P	.|0.61080	.|0.986;0.989;0.915	.|P;P;P	.|0.60789	.|0.862;0.879;0.641	T|T	0.34453|0.34453	-0.9828|-0.9828	5|10	.|0.46703	.|T	.|0.11	-13.2309|-13.2309	9.2731|9.2731	0.37684|0.37684	0.8049:0.0:0.1951:0.0|0.8049:0.0:0.1951:0.0	.|.	.|249;279;279	.|F5H5U7;Q96JG6;Q96JG6-2	.|.;CC132_HUMAN;.	M|H	66|279;279;249;90;10	.|ENSP00000251739:Q279H;ENSP00000445766:Q90H;ENSP00000325582:Q10H	.|ENSP00000251739:Q279H	K|Q	+|+	2|3	0|2	CCDC132|CCDC132	92743448|92743448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.581000|2.581000	0.46077|0.46077	0.950000|0.950000	0.37743|0.37743	0.528000|0.528000	0.53228|0.53228	AAG|CAA		0.343	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		58	15	0	0	0	0.00361	0	58	15				
SLC25A13	10165	broad.mit.edu	37	7	95906644	95906644	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:95906644T>C	ENST00000265631.5	-	3	212	c.76A>G	c.(76-78)Agc>Ggc	p.S26G	SLC25A13_ENST00000416240.2_Missense_Mutation_p.S26G|SLC25A13_ENST00000542654.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	26					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTCAATGCTTGCATACTGT	0.313																																							uc003uof.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(76-78)AGC>GGC		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						39.0	37.0	38.0					7																	95906644		2202	4300	6502	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95906644T>C	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.76A>G	7.37:g.95906644T>C	ENSP00000265631:p.Ser26Gly					SLC25A13_uc003uog.3_Missense_Mutation_p.S26G|SLC25A13_uc011kik.1_5'UTR	p.S26G	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		3	267	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		26					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.76A>G	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203514	0.79127	.	.	ENSG00000004864	ENST00000265631;ENST00000416240	D;D	0.86694	-2.16;-2.16	5.58	5.58	0.84498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	M	0.90145	3.09	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66847	0.947;0.947	D	0.95237	0.8348	10	0.72032	D	0.01	-8.7979	15.7307	0.77800	0.0:0.0:0.0:1.0	.	26;26	Q546F9;Q9UJS0	.;CMC2_HUMAN	G	26	ENSP00000265631:S26G;ENSP00000400101:S26G	ENSP00000265631:S26G	S	-	1	0	SLC25A13	95744580	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.591000	0.74090	2.248000	0.74166	0.460000	0.39030	AGC		0.313	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		12	0	0	0	0	0.001368	0	12	0				
TAC1	6863	broad.mit.edu	37	7	97361940	97361940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:97361940G>T	ENST00000319273.5	+	2	313	c.16G>T	c.(16-18)Gcc>Tcc	p.A6S	TAC1_ENST00000346867.4_Missense_Mutation_p.A6S|TAC1_ENST00000350485.4_Missense_Mutation_p.A6S	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	6					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					AATCCTCGTGGCCTTGGCAGT	0.443																																							uc003uop.3		NA																	0					0						c.(16-18)GCC>TCC		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						167.0	160.0	162.0					7																	97361940		2203	4300	6503	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97361940G>T	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.16G>T	7.37:g.97361940G>T	ENSP00000321106:p.Ala6Ser					TAC1_uc003uoq.3_Missense_Mutation_p.A6S|TAC1_uc003uor.3_Missense_Mutation_p.A6S|TAC1_uc003uos.3_Missense_Mutation_p.A6S	p.A6S	NM_003182	NP_003173	P20366	TKN1_HUMAN			2	262	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		6					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.16G>T	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881656	0.72294	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	5.09	4.21	0.49690	.	0.258863	0.38272	N	0.001749	T	0.45657	0.1353	N	0.19112	0.55	0.29161	N	0.877773	D;D;D;D	0.67145	0.99;0.961;0.996;0.996	D;P;D;D	0.76071	0.971;0.689;0.987;0.987	T	0.37033	-0.9723	9	0.56958	D	0.05	-1.6287	9.5074	0.39056	0.0951:0.0:0.9049:0.0	.	6;6;6;6	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	S	6	.	ENSP00000321106:A6S	A	+	1	0	TAC1	97199876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.323000	0.65858	1.533000	0.49186	0.561000	0.74099	GCC		0.443	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		106	16	1	0	2.68928e-46	0.00361	4.8382e-46	106	16				
BAIAP2L1	55971	broad.mit.edu	37	7	97991678	97991678	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:97991678C>T	ENST00000005260.8	-	2	333	c.118G>A	c.(118-120)Gct>Act	p.A40T	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	40	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)			CCGTTTACAGCTTTCTCATAA	0.284																																							uc003upj.2		NA																	0				ovary(1)	1						c.(118-120)GCT>ACT		BAI1-associated protein 2-like 1							75.0	82.0	80.0					7																	97991678		2202	4300	6502	SO:0001583	missense	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.chr7:97991678C>T	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.118G>A	7.37:g.97991678C>T	ENSP00000005260:p.Ala40Thr						p.A40T	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	381	-	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)		40			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.118G>A	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174361	0.78452	.	.	ENSG00000006453	ENST00000005260	T	0.34072	1.38	5.45	5.45	0.79879	IRSp53/MIM homology domain (IMD) (3);	0.167136	0.53938	D	0.000051	T	0.61022	0.2314	M	0.83223	2.63	0.58432	D	0.999992	D	0.69078	0.997	D	0.65323	0.934	T	0.64508	-0.6391	10	0.52906	T	0.07	-18.9119	14.7855	0.69800	0.0:1.0:0.0:0.0	.	40	Q9UHR4	BI2L1_HUMAN	T	40	ENSP00000005260:A40T	ENSP00000005260:A40T	A	-	1	0	AC093799.1	97829614	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.770000	0.38532	2.575000	0.86900	0.591000	0.81541	GCT		0.284	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		33	6	0	0	0	0.003755	0	33	6				
TRRAP	8295	broad.mit.edu	37	7	98562303	98562303	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:98562303A>T	ENST00000359863.4	+	47	7069	c.6860A>T	c.(6859-6861)gAc>gTc	p.D2287V	TRRAP_ENST00000355540.3_Missense_Mutation_p.D2269V|TRRAP_ENST00000446306.3_Missense_Mutation_p.D2268V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2287	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTACATAGACAGGCTGATC	0.502																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(6859-6861)GAC>GTC		transformation/transcription domain-associated							101.0	92.0	95.0					7																	98562303		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98562303A>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6860A>T	7.37:g.98562303A>T	ENSP00000352925:p.Asp2287Val					TRRAP_uc011kis.1_Missense_Mutation_p.D2269V|TRRAP_uc003upr.2_Missense_Mutation_p.D1986V	p.D2287V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		47	7069	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2287			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.6860A>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.437050|4.437050	0.83885|0.83885	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65364|.	-0.15;-0.15|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75925|0.75925	0.3916|0.3916	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.81914|.	0.995;0.982;0.992|.	T|T	0.77606|0.77606	-0.2525|-0.2525	10|5	0.59425|.	D|.	0.04|.	.|.	15.317|15.317	0.74089|0.74089	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2269;2008;2287|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|S	2287;2269;2267|2009	ENSP00000352925:D2287V;ENSP00000347733:D2269V|.	ENSP00000347733:D2269V|.	D|T	+|+	2|1	0|0	TRRAP|TRRAP	98400239|98400239	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.847000|0.847000	0.48162|0.48162	8.910000|8.910000	0.92685|0.92685	2.065000|2.065000	0.61736|0.61736	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.502	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		59	9	0	0	0	0.00361	0	59	9				
MUC17	140453	broad.mit.edu	37	7	100686953	100686953	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:100686953C>A	ENST00000306151.4	+	3	12320	c.12256C>A	c.(12256-12258)Cct>Act	p.P4086T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4086					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACTGTGAACCCTGAGGCTGT	0.557																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12256-12258)CCT>ACT		mucin 17 precursor							218.0	188.0	198.0					7																	100686953		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686953C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12256C>A	7.37:g.100686953C>A	ENSP00000302716:p.Pro4086Thr					MUC17_uc010lho.1_RNA	p.P4086T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	12309	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4086			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12256C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956943	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	1.43	-1.51	0.08664	.	.	.	.	.	T	0.01454	0.0047	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.48747	-0.9008	9	0.19147	T	0.46	.	5.1169	0.14838	0.604:0.396:0.0:0.0	.	4086	Q685J3	MUC17_HUMAN	T	4086	ENSP00000302716:P4086T	ENSP00000302716:P4086T	P	+	1	0	MUC17	100473673	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-3.198000	0.00561	-0.046000	0.13446	-0.467000	0.05162	CCT		0.557	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		87	15	1	0	2.33925e-33	0.00361	3.99303e-33	87	15				
PIK3CG	5294	broad.mit.edu	37	7	106508261	106508261	+	Silent	SNP	G	G	C	rs562007121	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:106508261G>C	ENST00000359195.3	+	2	565	c.255G>C	c.(253-255)gcG>gcC	p.A85A	PIK3CG_ENST00000440650.2_Silent_p.A85A|PIK3CG_ENST00000496166.1_Silent_p.A85A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	85	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCGTGGCGGCGGACTTCTACC	0.637																																							uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(253-255)GCG>GCC		phosphoinositide-3-kinase, catalytic, gamma							24.0	27.0	26.0					7																	106508261		2197	4293	6490	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508261G>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.255G>C	7.37:g.106508261G>C						PIK3CG_uc003vdu.2_Silent_p.A85A|PIK3CG_uc003vdw.2_Silent_p.A85A	p.A85A	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	340	+			85					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.255G>C	CCDS5739.1																																																																																				0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			29	10	0	0	0	0.009535	0	29	10				
COG5	10466	broad.mit.edu	37	7	107002814	107002814	+	Missense_Mutation	SNP	C	C	A	rs576854159		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:107002814C>A	ENST00000347053.3	-	9	1030	c.980G>T	c.(979-981)cGt>cTt	p.R327L	COG5_ENST00000297135.3_Missense_Mutation_p.R327L|COG5_ENST00000393603.2_Missense_Mutation_p.R327L	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	327					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAATGAGGCACGCAAAGCTGC	0.398																																							uc003ved.2		NA																	0				central_nervous_system(2)|skin(2)	4						c.(979-981)CGT>CTT		component of oligomeric golgi complex 5 isoform							84.0	82.0	83.0					7																	107002814		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107002814C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.980G>T	7.37:g.107002814C>A	ENSP00000334703:p.Arg327Leu					COG5_uc003vec.2_Missense_Mutation_p.R327L|COG5_uc003vee.2_Missense_Mutation_p.R327L	p.R327L	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			9	1505	-			327					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.980G>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969842	0.92855	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.30182	1.54;1.54;1.54	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.97;0.99	T	0.64914	-0.6295	10	0.48119	T	0.1	-12.3955	20.181	0.98201	0.0:1.0:0.0:0.0	.	327;327	Q9UP83;Q9UP83-2	COG5_HUMAN;.	L	327	ENSP00000334703:R327L;ENSP00000297135:R327L;ENSP00000377228:R327L	ENSP00000297135:R327L	R	-	2	0	COG5	106790050	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.163000	0.77524	2.840000	0.97914	0.655000	0.94253	CGT		0.398	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			28	3	1	0	2.42023e-17	0.003271	3.39676e-17	28	3				
EIF3IP1	442720	broad.mit.edu	37	7	109599911	109599911	+	IGR	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:109599911C>A								AC073071.1 (362688 upstream) : AC003088.1 (472384 downstream)																							TTCTGCTTCTCCATGGAGAAC	0.483																																							uc003vfp.1		NA																	0					0						c.(187-189)GAG>TAG		Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																																				SO:0001628	intergenic_variant	442720							g.chr7:109599911C>A																													7.37:g.109599911C>A							p.E63*	NR_003024						1	360	-									Nonsense_Mutation	SNP		37	c.187G>T																																																																																				0	0.483									12	16	1	0	6.40141e-05	0.000978	6.88944e-05	12	16				
FOXP2	93986	broad.mit.edu	37	7	114269983	114269983	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:114269983C>G	ENST00000393494.2	+	5	799	c.520C>G	c.(520-522)Caa>Gaa	p.Q174E	FOXP2_ENST00000408937.3_Missense_Mutation_p.Q199E|FOXP2_ENST00000393500.3_Missense_Mutation_p.Q99E|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q198E|FOXP2_ENST00000378237.3_Missense_Mutation_p.Q174E|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q174E|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q191E|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q154E|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q174E|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q82E|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q82E			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						acaacaacaacaacagcagca	0.507																																							uc003vhb.2		NA																	0		p.Q174*(1)		ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(520-522)CAA>GAA		forkhead box P2 isoform I							39.0	36.0	37.0					7																	114269983		2202	4292	6494	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269983C>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.520C>G	7.37:g.114269983C>G	ENSP00000377132:p.Gln174Glu					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.Q199E|FOXP2_uc003vha.2_Missense_Mutation_p.Q82E|FOXP2_uc011kmu.1_Missense_Mutation_p.Q191E|FOXP2_uc011kmv.1_Missense_Mutation_p.Q174E|FOXP2_uc010ljz.1_Missense_Mutation_p.Q82E|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.Q174E|FOXP2_uc003vgx.2_Missense_Mutation_p.Q174E|FOXP2_uc003vhd.2_Missense_Mutation_p.Q174E|FOXP2_uc003vhc.2_Missense_Mutation_p.Q199E	p.Q174E	NM_014491	NP_055306	O15409	FOXP2_HUMAN			5	894	+			174			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.520C>G	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075980	0.36662	.	.	ENSG00000128573	ENST00000393500;ENST00000324462;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.39056	1.55;1.25;1.1;1.55;1.25;1.25;1.26;1.25;1.55;1.26	6.16	6.16	0.99307	.	0.511546	0.20602	N	0.089121	T	0.34919	0.0914	N	0.19112	0.55	0.53688	D	0.999978	B;B;B;B;B;B;B	0.31290	0.118;0.118;0.213;0.318;0.318;0.118;0.187	B;B;B;B;B;B;B	0.29716	0.033;0.033;0.033;0.073;0.106;0.033;0.073	T	0.17077	-1.0381	10	0.66056	D	0.02	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	174;191;82;174;198;174;199	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	E	99;174;174;199;191;174;152;174;82;174;180;198;82	ENSP00000377137:Q99E;ENSP00000377132:Q174E;ENSP00000386200:Q199E;ENSP00000385069:Q191E;ENSP00000265436:Q174E;ENSP00000367482:Q174E;ENSP00000377129:Q82E;ENSP00000353367:Q174E;ENSP00000375084:Q198E;ENSP00000377130:Q82E	ENSP00000319424:Q174E	Q	+	1	0	FOXP2	114057219	0.319000	0.24607	0.994000	0.49952	0.715000	0.41141	1.346000	0.33964	2.937000	0.99478	0.650000	0.86243	CAA		0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		18	5	0	0	0	0.00499	0	18	5				
ST7	7982	broad.mit.edu	37	7	116869933	116869933	+	3'UTR	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:116869933A>C	ENST00000393446.2	+	0	1897				ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393451.3_3'UTR|ST7_ENST00000393447.4_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393443.1_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCCTCCACTCACCTCACCCGC	0.522																																							uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1459-1461)CAC>CCC		suppression of tumorigenicity 7 isoform b							60.0	54.0	56.0					7																	116869933		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869933A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*22A>C	7.37:g.116869933A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.H487P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1465	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1460A>C		.	.	.	.	.	.	.	.	.	.	A	5.313	0.243078	0.10077	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.19669	2.13;2.13	5.16	-1.73	0.08081	.	.	.	.	.	T	0.11707	0.0285	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.36915	-0.9728	8	0.87932	D	0	.	0.6414	0.00811	0.2562:0.1246:0.2838:0.3355	.	487	C9JU30	.	P	485;487	ENSP00000402934:H485P;ENSP00000419516:H487P	ENSP00000402934:H485P	H	+	2	0	ST7	116657169	0.000000	0.05858	0.023000	0.16930	0.030000	0.12068	-0.545000	0.06069	0.053000	0.16036	-0.371000	0.07208	CAC		0.522	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		6	46	0	0	0	0.003163	0	6	46				
ANKRD7	56311	broad.mit.edu	37	7	117876982	117876982	+	Splice_Site	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:117876982T>A	ENST00000265224.4	+	5	867		c.e5+2		ANKRD7_ENST00000357099.4_Splice_Site|ANKRD7_ENST00000417525.1_Splice_Site|ANKRD7_ENST00000477532.1_Splice_Site|ANKRD7_ENST00000433239.1_Splice_Site	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7						male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TTTTACTGCGTAAGTGATACT	0.398																																							uc003vji.2		NA																	0					0						c.e5+2		ankyrin repeat domain 7							266.0	245.0	252.0					7																	117876982		1894	4110	6004	SO:0001630	splice_region_variant	56311				male gonad development			g.chr7:117876982T>A	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.712+2T>A	7.37:g.117876982T>A							p.H238_splice	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			5	885	+								B4DYF5|Q96QN1|Q9UDM3	Splice_Site	SNP	ENST00000265224.4	37	c.712_splice	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	T	9.696	1.153183	0.21371	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8259	0.52267	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD7	117664218	1.000000	0.71417	0.939000	0.37840	0.048000	0.14542	4.112000	0.57845	1.884000	0.54569	0.374000	0.22700	.		0.398	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	Intron	94	17	0	0	0	0.00361	0	94	17				
CPED1	79974	broad.mit.edu	37	7	120935540	120935540	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:120935540A>T	ENST00000310396.5	+	23	3382	c.2915A>T	c.(2914-2916)aAa>aTa	p.K972I		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	972						endoplasmic reticulum (GO:0005783)											ATTAAAATGAAAAGATCAAGA	0.328																																							uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2914-2916)AAA>ATA		hypothetical protein LOC79974 isoform 1							52.0	51.0	52.0					7																	120935540		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120935540A>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2915A>T	7.37:g.120935540A>T	ENSP00000309772:p.Lys972Ile						p.K972I	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			23	3362	+	all_neural(327;0.117)		972					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2915A>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988541	0.74589	.	.	ENSG00000106034	ENST00000310396	T	0.21361	2.01	5.77	5.77	0.91146	.	0.114932	0.56097	D	0.000028	T	0.37100	0.0991	L	0.60455	1.87	0.80722	D	1	D	0.64830	0.994	D	0.67900	0.954	T	0.23691	-1.0181	10	0.66056	D	0.02	.	6.9014	0.24285	0.7198:0.2013:0.0789:0.0	.	972	A4D0V7	CG058_HUMAN	I	972	ENSP00000309772:K972I	ENSP00000309772:K972I	K	+	2	0	C7orf58	120722776	0.989000	0.36119	0.962000	0.40283	0.996000	0.88848	2.721000	0.47260	2.199000	0.70637	0.533000	0.62120	AAA		0.328	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		15	1	0	0	0	0.003163	0	15	1				
GRM8	2918	broad.mit.edu	37	7	126409993	126409993	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:126409993A>G	ENST00000339582.2	-	7	2091	c.1283T>C	c.(1282-1284)aTt>aCt	p.I428T	GRM8_ENST00000405249.1_Missense_Mutation_p.I428T|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.I428T|GRM8_ENST00000444921.2_Missense_Mutation_p.I428T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	428					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)				ACAAAGGCCAATGTATCCAGG	0.408										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1282-1284)ATT>ACT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						147.0	132.0	137.0					7																	126409993		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126409993A>G		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.1283T>C	7.37:g.126409993A>G	ENSP00000344173:p.Ile428Thr	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I428T|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.I149T	p.I428T	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1594	-		Prostate(267;0.186)	428			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1283T>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	2.352	-0.348703	0.05208	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.118734	0.64402	D	0.000020	T	0.55353	0.1915	N	0.00254	-1.765	0.36085	D	0.843085	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.006;0.001;0.006	T	0.64437	-0.6408	10	0.02654	T	1	.	15.287	0.73835	1.0:0.0:0.0:0.0	.	428;428;428	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	T	428	ENSP00000344173:I428T;ENSP00000409790:I428T;ENSP00000351142:I428T;ENSP00000385731:I428T	ENSP00000344173:I428T	I	-	2	0	GRM8	126197229	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.010000	0.49559	2.190000	0.69967	0.533000	0.62120	ATT		0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			35	33	0	0	0	0.004289	0	35	33				
ZNF800	168850	broad.mit.edu	37	7	127014753	127014753	+	Nonsense_Mutation	SNP	C	C	A	rs376619481		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:127014753C>A	ENST00000393313.1	-	5	1228	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.E213*|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.E213*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GCCTGCGACTCCTGAGGTTGT	0.433																																							uc003vlx.1		NA																	0				ovary(1)	1						c.(637-639)GAG>TAG		zinc finger protein 800							110.0	109.0	109.0					7																	127014753		2203	4300	6503	SO:0001587	stop_gained	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014753C>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.637G>T	7.37:g.127014753C>A	ENSP00000376989:p.Glu213*					ZNF800_uc003vlw.1_Nonsense_Mutation_p.E116*|ZNF800_uc003vly.1_Nonsense_Mutation_p.E213*|ZNF800_uc010lla.2_Nonsense_Mutation_p.E213*	p.E213*	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	900	-			213					Q9HBN0	Nonsense_Mutation	SNP	ENST00000393313.1	37	c.637G>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435490	0.62955	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	.	.	.	5.68	5.68	0.88126	.	0.102028	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	0.2843	18.7799	0.91928	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000265827:E213X	E	-	1	0	ZNF800	126801989	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.273000	0.43381	2.685000	0.91497	0.650000	0.86243	GAG		0.433	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		54	56	1	0	1.46357e-32	0.00361	2.48949e-32	54	56				
SND1	27044	broad.mit.edu	37	7	127729610	127729610	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:127729610G>T	ENST00000354725.3	+	22	2682	c.2488G>T	c.(2488-2490)Gtg>Ttg	p.V830L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	830					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGCTCAACGTGGAACACCT	0.597																																							uc003vmi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2488-2490)GTG>TTG		staphylococcal nuclease domain containing 1							147.0	130.0	136.0					7																	127729610		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127729610G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2488G>T	7.37:g.127729610G>T	ENSP00000346762:p.Val830Leu					SND1_uc010lle.2_Missense_Mutation_p.V483L	p.V830L	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			22	2714	+			830					Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2488G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229740	0.58777	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.30714	1.52	5.02	5.02	0.67125	Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.059675	0.64402	D	0.000003	T	0.35098	0.0920	M	0.72118	2.19	0.58432	D	0.999999	B	0.27559	0.181	B	0.19391	0.025	T	0.23084	-1.0198	10	0.54805	T	0.06	-16.551	15.8344	0.78787	0.0:0.0:1.0:0.0	.	830	Q7KZF4	SND1_HUMAN	L	830;820	ENSP00000346762:V830L	ENSP00000346762:V830L	V	+	1	0	SND1	127516846	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.023000	0.70848	2.346000	0.79739	0.549000	0.68633	GTG		0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		19	81	1	0	1.56452e-12	0.007413	1.99722e-12	19	81				
FLNC	2318	broad.mit.edu	37	7	128478681	128478681	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:128478681T>C	ENST00000325888.8	+	8	1496	c.1235T>C	c.(1234-1236)gTg>gCg	p.V412A	FLNC_ENST00000346177.6_Missense_Mutation_p.V412A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	412					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATGTTGCTGTGGTGATCGTG	0.652																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1234-1236)GTG>GCG		gamma filamin isoform a							68.0	83.0	78.0					7																	128478681		2162	4246	6408	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478681T>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1235T>C	7.37:g.128478681T>C	ENSP00000327145:p.Val412Ala					FLNC_uc003voa.3_Missense_Mutation_p.V412A	p.V412A	NM_001458	NP_001449	Q14315	FLNC_HUMAN			8	1444	+			412			Filamin 2.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1235T>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421646	0.62622	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88586	-2.4;-2.4	5.43	5.43	0.79202	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.68593	2.085	0.54753	D	0.999984	D;B	0.71674	0.998;0.244	D;B	0.81914	0.995;0.26	D	0.93397	0.6757	10	0.52906	T	0.07	.	14.2979	0.66327	0.0:0.0:0.0:1.0	.	412;412	Q14315-2;Q14315	.;FLNC_HUMAN	A	412	ENSP00000327145:V412A;ENSP00000344002:V412A	ENSP00000327145:V412A	V	+	2	0	FLNC	128265917	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.277000	0.72608	2.048000	0.60808	0.459000	0.35465	GTG		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			57	118	0	0	0	0.00361	0	57	118				
FLNC	2318	broad.mit.edu	37	7	128486948	128486948	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:128486948G>C	ENST00000325888.8	+	24	4538	c.4277G>C	c.(4276-4278)cGg>cCg	p.R1426P	FLNC_ENST00000346177.6_Missense_Mutation_p.R1426P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1426					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCGGGGGGCGGCCCATCCCA	0.592																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(4276-4278)CGG>CCG		gamma filamin isoform a							60.0	62.0	62.0					7																	128486948		1984	4168	6152	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486948G>C	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4277G>C	7.37:g.128486948G>C	ENSP00000327145:p.Arg1426Pro					FLNC_uc003voa.3_Missense_Mutation_p.R1426P	p.R1426P	NM_001458	NP_001449	Q14315	FLNC_HUMAN			24	4486	+			1426			Filamin 12.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4277G>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354456	0.41700	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	4.69	3.8	0.43715	Immunoglobulin-like fold (1);	0.230986	0.37348	N	0.002121	T	0.79753	0.4500	L	0.45352	1.415	0.34569	D	0.713197	B;B	0.30439	0.279;0.103	B;B	0.35353	0.201;0.112	T	0.81647	-0.0838	10	0.54805	T	0.06	.	7.7925	0.29129	0.2563:0.0:0.7437:0.0	.	1426;1426	Q14315-2;Q14315	.;FLNC_HUMAN	P	1426	ENSP00000327145:R1426P;ENSP00000344002:R1426P	ENSP00000327145:R1426P	R	+	2	0	FLNC	128274184	0.003000	0.15002	0.994000	0.49952	0.956000	0.61745	1.002000	0.29796	1.076000	0.40961	0.561000	0.74099	CGG		0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			41	33	0	0	0	0.009718	0	41	33				
FLNC	2318	broad.mit.edu	37	7	128498253	128498253	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:128498253G>T	ENST00000325888.8	+	47	8233	c.7972G>T	c.(7972-7974)Gtg>Ttg	p.V2658L	FLNC_ENST00000346177.6_Missense_Mutation_p.V2625L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2658	Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTCCTTCACCGTGGACTGCAG	0.647																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7972-7974)GTG>TTG		gamma filamin isoform a							13.0	13.0	13.0					7																	128498253		1828	4008	5836	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128498253G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7972G>T	7.37:g.128498253G>T	ENSP00000327145:p.Val2658Leu					FLNC_uc003voa.3_Missense_Mutation_p.V2625L	p.V2658L	NM_001458	NP_001449	Q14315	FLNC_HUMAN			47	8181	+			2658			Interaction with INPPL1.|Filamin 24.|Self-association site, tail (By similarity).		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7972G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932900	0.92458	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88818	-2.43;-2.43	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.79343	2.45	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.85130	0.997;0.746	D	0.95075	0.8208	10	0.72032	D	0.01	.	18.4516	0.90705	0.0:0.0:1.0:0.0	.	2625;2658	Q14315-2;Q14315	.;FLNC_HUMAN	L	2658;2625	ENSP00000327145:V2658L;ENSP00000344002:V2625L	ENSP00000327145:V2658L	V	+	1	0	FLNC	128285489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.640000	0.74319	2.349000	0.79799	0.557000	0.71058	GTG		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			29	24	1	0	2.12129e-23	0.00361	3.28468e-23	29	24				
SMO	6608	broad.mit.edu	37	7	128843410	128843410	+	Missense_Mutation	SNP	C	C	A	rs143083812	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:128843410C>A	ENST00000249373.3	+	2	797	c.517C>A	c.(517-519)Cgc>Agc	p.R173S		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	173	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CACTCCTGACCGCTTCCCTGA	0.677			Mis		skin basal cell																																		uc003vor.2		NA		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		0				skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(517-519)CGC>AGC		smoothened precursor							30.0	25.0	27.0					7																	128843410		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128843410C>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.517C>A	7.37:g.128843410C>A	ENSP00000249373:p.Arg173Ser						p.R173S	NM_005631	NP_005622	Q99835	SMO_HUMAN			2	797	+			173			FZ.|Extracellular (Potential).		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.517C>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261895	0.39995	.	.	ENSG00000128602	ENST00000249373	T	0.76186	-1.0	5.5	3.54	0.40534	Frizzled domain (5);	0.358120	0.36409	N	0.002615	T	0.61274	0.2334	L	0.37507	1.11	0.31692	N	0.641821	B	0.17667	0.023	B	0.20384	0.029	T	0.58387	-0.7645	10	0.22109	T	0.4	.	10.0937	0.42462	0.0:0.7852:0.1374:0.0775	.	173	Q99835	SMO_HUMAN	S	173	ENSP00000249373:R173S	ENSP00000249373:R173S	R	+	1	0	SMO	128630646	0.761000	0.28439	1.000000	0.80357	0.974000	0.67602	1.226000	0.32563	2.584000	0.87258	0.563000	0.77884	CGC		0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		9	10	1	0	1.58986e-06	0.008291	1.77324e-06	9	10				
AHCYL2	23382	broad.mit.edu	37	7	129062682	129062682	+	Splice_Site	SNP	C	C	A	rs148610666		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:129062682C>A	ENST00000325006.3	+	13	1517	c.1463C>A	c.(1462-1464)gCg>gAg	p.A488E	AHCYL2_ENST00000490911.1_Splice_Site_p.A385E|AHCYL2_ENST00000446544.2_Splice_Site_p.A487E|AHCYL2_ENST00000531335.2_Splice_Site_p.A407E|AHCYL2_ENST00000446212.1_Splice_Site_p.A386E|AHCYL2_ENST00000474594.1_Splice_Site_p.A385E	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	488					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTGTTCCAGGCGAGTCTGCGG	0.502																																					Pancreas(160;1736 1964 29875 40941 45605)	Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.1		NA																	0				ovary(2)	2						c.(1462-1464)GCG>GAG		S-adenosylhomocysteine hydrolase-like 2 isoform							159.0	139.0	146.0					7																	129062682		2203	4300	6503	SO:0001630	splice_region_variant	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129062682C>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1462-1C>A	7.37:g.129062682C>A						AHCYL2_uc003vot.2_Missense_Mutation_p.A487E|AHCYL2_uc003vov.2_Missense_Mutation_p.A385E|AHCYL2_uc011kow.1_Missense_Mutation_p.A386E|AHCYL2_uc011kox.1_Missense_Mutation_p.A385E	p.A488E	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			13	1517	+			488					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1463C>A	CCDS5812.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128476	0.56721	.	.	ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.14;-1.13;-1.13;-1.13	5.37	5.37	0.77165	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	L	0.53561	1.675	0.80722	D	1	B;B;B;B;B	0.22346	0.004;0.001;0.068;0.001;0.055	B;B;B;B;B	0.24974	0.021;0.012;0.057;0.012;0.034	T	0.72537	-0.4263	10	0.46703	T	0.11	-15.0412	17.6687	0.88210	0.0:1.0:0.0:0.0	.	385;386;488;385;487	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.;.;SAHH3_HUMAN;.;.	E	488;487;407;385;386;385	ENSP00000315931:A488E;ENSP00000413639:A487E;ENSP00000431787:A407E;ENSP00000420459:A385E;ENSP00000405267:A386E;ENSP00000420801:A385E	ENSP00000315931:A488E	A	+	2	0	AHCYL2	128849918	1.000000	0.71417	0.963000	0.40424	0.932000	0.56968	7.772000	0.85439	2.510000	0.84645	0.561000	0.74099	GCG		0.502	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		Missense_Mutation	20	58	1	0	4.96729e-08	0.008871	5.77328e-08	20	58				
TSGA13	114960	broad.mit.edu	37	7	130357665	130357665	+	Missense_Mutation	SNP	G	G	T	rs201869966		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:130357665G>T	ENST00000456951.1	-	7	1290	c.439C>A	c.(439-441)Cct>Act	p.P147T	TSGA13_ENST00000356588.3_Missense_Mutation_p.P147T			Q96PP4	TSG13_HUMAN	testis specific, 13	147										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTTTTCTGAGGCATGCGGGGC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20924	0.0		0.0	False		,,,				2504	0.0						uc003vqi.2		NA																	0				ovary(2)	2						c.(439-441)CCT>ACT		testis specific, 13							155.0	147.0	150.0					7																	130357665		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130357665G>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.439C>A	7.37:g.130357665G>T	ENSP00000406047:p.Pro147Thr					TSGA13_uc003vqj.2_Missense_Mutation_p.P147T	p.P147T	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			6	896	-	Melanoma(18;0.0435)		147					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.439C>A	CCDS5824.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.35	2.210058	0.39003	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.52	-3.07	0.05363	.	0.768173	0.11468	N	0.561015	T	0.24084	0.0583	N	0.24115	0.695	0.20403	N	0.999901	B	0.27932	0.194	B	0.27715	0.082	T	0.13980	-1.0489	9	0.44086	T	0.13	1.1982	6.7181	0.23314	0.3656:0.0:0.5221:0.1123	.	147	Q96PP4	TSG13_HUMAN	T	147	.	ENSP00000348996:P147T	P	-	1	0	TSGA13	130008205	0.076000	0.21285	0.361000	0.25849	0.546000	0.35178	-0.914000	0.04038	-0.928000	0.03761	0.655000	0.94253	CCT		0.468	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		32	6	1	0	1.13719e-10	0.008361	1.39995e-10	32	6				
PLXNA4	91584	broad.mit.edu	37	7	131829931	131829931	+	Silent	SNP	A	A	T	rs138367497		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:131829931A>T	ENST00000359827.3	-	29	6134	c.5172T>A	c.(5170-5172)gcT>gcA	p.A1724A	PLXNA4_ENST00000321063.4_Silent_p.A1724A			Q9HCM2	PLXA4_HUMAN	plexin A4	1724					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATGTTTATCAGCCTGCTCAT	0.577																																							uc003vra.3		NA																	0				ovary(1)	1						c.(5170-5172)GCT>GCA		plexin A4 isoform 1							101.0	102.0	102.0					7																	131829931		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131829931A>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5172T>A	7.37:g.131829931A>T						PLXNA4_uc003vqz.3_Silent_p.A9A	p.A1724A	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			29	5401	-			1724			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.5172T>A	CCDS43646.1																																																																																				0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		44	37	0	0	0	0.00361	0	44	37				
TMEM140	55281	broad.mit.edu	37	7	134849422	134849422	+	Silent	SNP	C	C	A	rs145562868	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:134849422C>A	ENST00000275767.3	+	2	452	c.229C>A	c.(229-231)Cgg>Agg	p.R77R	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	77						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						GGGGGTGCCTCGGGTTGGCCT	0.612																																							uc003vsi.2		NA																	0				large_intestine(1)	1						c.(229-231)CGG>AGG		transmembrane protein 140							70.0	73.0	72.0					7																	134849422		2203	4300	6503	SO:0001819	synonymous_variant	55281					integral to membrane		g.chr7:134849422C>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.229C>A	7.37:g.134849422C>A						C7orf49_uc003vsh.2_Intron	p.R77R	NM_018295	NP_060765	Q9NV12	TM140_HUMAN			2	510	+			77			Extracellular (Potential).		A4D1P9|Q8WUC3	Silent	SNP	ENST00000275767.3	37	c.229C>A	CCDS5837.1																																																																																				0.612	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		88	19	1	0	4.066e-59	0.00361	7.53223e-59	88	19				
SLC13A4	26266	broad.mit.edu	37	7	135376069	135376069	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:135376069C>T	ENST00000354042.4	-	13	2012	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	441					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GCTCCTGGTTCTCTCCTGGAT	0.512																																							uc003vta.2		NA																	0					0						c.(1321-1323)GAG>GAA		solute carrier family 13 (sodium/sulfate							96.0	92.0	93.0					7																	135376069		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376069C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1323G>A	7.37:g.135376069C>T						SLC13A4_uc003vtb.2_Silent_p.E442E|PL-5283_uc003vsz.3_Intron	p.E441E	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			13	2012	-			441					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.1323G>A	CCDS5840.1																																																																																				0.512	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		27	50	0	0	0	0.002096	0	27	50				
CHRM2	1129	broad.mit.edu	37	7	136700959	136700959	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:136700959G>A	ENST00000445907.2	+	3	1875	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Silent_p.K449K|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Silent_p.K449K|CHRM2_ENST00000401861.1_Silent_p.K449K|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Silent_p.K449K|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.K449K|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	449					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTTCAAGAAGACCTTTAAAC	0.433																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1345-1347)AAG>AAA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						186.0	166.0	173.0					7																	136700959		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700959G>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1347G>A	7.37:g.136700959G>A						CHRM2_uc003vtg.1_Silent_p.K449K|CHRM2_uc003vtj.1_Silent_p.K449K|CHRM2_uc003vtk.1_Silent_p.K449K|CHRM2_uc003vtl.1_Silent_p.K449K|CHRM2_uc003vtm.1_Silent_p.K449K|CHRM2_uc003vti.1_Silent_p.K449K|CHRM2_uc003vto.1_Silent_p.K449K|CHRM2_uc003vtn.1_Silent_p.K449K|uc003vtp.1_Intron	p.K449K	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1970	+			449			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1347G>A	CCDS5843.1																																																																																				0.433	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			71	15	0	0	0	0.00361	0	71	15				
DENND2A	27147	broad.mit.edu	37	7	140246698	140246698	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:140246698G>T	ENST00000275884.6	-	12	2496	c.2079C>A	c.(2077-2079)gcC>gcA	p.A693A	DENND2A_ENST00000492720.1_Silent_p.A693A|DENND2A_ENST00000537639.1_Silent_p.A693A|DENND2A_ENST00000496613.1_Silent_p.A693A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	693	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTGAACCAGGGCAGGAGAGA	0.527																																							uc010lnj.2		NA																	0				ovary(3)|breast(1)	4						c.(2077-2079)GCC>GCA		DENN/MADD domain containing 2A							70.0	73.0	72.0					7																	140246698		1983	4178	6161	SO:0001819	synonymous_variant	27147							g.chr7:140246698G>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2079C>A	7.37:g.140246698G>T						DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.A693A|DENND2A_uc003vvw.2_Silent_p.A693A|DENND2A_uc003vvx.2_Silent_p.A693A	p.A693A	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			11	2224	-	Melanoma(164;0.00956)		693			DENN.		C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.2079C>A	CCDS43659.1																																																																																				0.527	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		31	9	1	0	4.65686e-17	0.003755	6.48407e-17	31	9				
MGAM	8972	broad.mit.edu	37	7	141730439	141730439	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:141730439A>T	ENST00000549489.2	+	12	1448		c.e12-1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTATTTTTAGGATCCAGCC	0.453																																							uc003vwy.2		NA																	0				ovary(2)	2						c.e12-2		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						87.0	79.0	81.0					7																	141730439		1913	4123	6036	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141730439A>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1354-1A>T	7.37:g.141730439A>T							p.D452_splice	NM_004668	NP_004659	O43451	MGA_HUMAN			12	1408	+	Melanoma(164;0.0272)							Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.1354_splice	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527342	0.64860	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8106	0.63262	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141376908	1.000000	0.71417	0.994000	0.49952	0.827000	0.46813	8.108000	0.89559	2.096000	0.63516	0.460000	0.39030	.		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron	41	10	0	0	0	0.00874	0	41	10				
MGAM	8972	broad.mit.edu	37	7	141736737	141736737	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:141736737C>T	ENST00000549489.2	+	18	2286	c.2191C>T	c.(2191-2193)Cac>Tac	p.H731Y	MGAM_ENST00000475668.2_Missense_Mutation_p.H731Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	731	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTCCGTGCTCACAGCCGAGG	0.478																																							uc003vwy.2		NA																	0				ovary(2)	2						c.(2191-2193)CAC>TAC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						199.0	202.0	201.0					7																	141736737		2031	4192	6223	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736737C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2191C>T	7.37:g.141736737C>T	ENSP00000447378:p.His731Tyr						p.H731Y	NM_004668	NP_004659	O43451	MGA_HUMAN			18	2245	+	Melanoma(164;0.0272)		731			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2191C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985136	0.93044	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93366	-3.21	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.56097	D	0.000029	D	0.96719	0.8929	M	0.84846	2.72	0.53005	D	0.999968	D	0.65815	0.995	P	0.61533	0.89	D	0.96700	0.9517	10	0.62326	D	0.03	.	18.8472	0.92212	0.0:1.0:0.0:0.0	.	731	O43451	MGA_HUMAN	Y	731;731;608	ENSP00000447378:H731Y	ENSP00000316431:H608Y	H	+	1	0	MGAM	141383206	1.000000	0.71417	0.963000	0.40424	0.989000	0.77384	7.818000	0.86416	2.763000	0.94921	0.650000	0.86243	CAC		0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			123	24	0	0	0	0.00361	0	123	24				
TRPV5	56302	broad.mit.edu	37	7	142625798	142625798	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:142625798C>A	ENST00000265310.1	-	6	1098	c.750G>T	c.(748-750)gaG>gaT	p.E250D	TRPV5_ENST00000442623.1_Missense_Mutation_p.E250D	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	250					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGTGTTACCCTCCACTCCAG	0.587																																							uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(748-750)GAG>GAT		transient receptor potential cation channel,							88.0	81.0	83.0					7																	142625798		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625798C>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.750G>T	7.37:g.142625798C>A	ENSP00000265310:p.Glu250Asp					TRPV5_uc003wbz.2_Missense_Mutation_p.E250D	p.E250D	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			6	1014	-	Melanoma(164;0.059)		250			ANK 5.|Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.750G>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183479	0.57800	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;T;D	0.85088	-1.94;0.82;-1.94	4.09	2.23	0.28157	Ankyrin repeat-containing domain (3);	0.051009	0.85682	D	0.000000	D	0.85008	0.5599	M	0.86573	2.825	0.58432	D	0.99999	P;B	0.36944	0.574;0.283	B;B	0.40702	0.338;0.116	T	0.79754	-0.1670	10	0.13853	T	0.58	-12.72	9.1882	0.37182	0.0:0.8042:0.0:0.1958	.	250;250	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	D	250;244;250	ENSP00000265310:E250D;ENSP00000406361:E244D;ENSP00000406572:E250D	ENSP00000265310:E250D	E	-	3	2	TRPV5	142335920	0.997000	0.39634	1.000000	0.80357	0.709000	0.40893	0.514000	0.22786	1.038000	0.40049	0.462000	0.41574	GAG		0.587	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		17	2	1	0	1.15088e-07	0.004007	1.32252e-07	17	2				
KEL	3792	broad.mit.edu	37	7	142636792	142636792	+	IGR	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:142636792C>T	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.P50L	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAGGTGAAGCCTCTGAACGGG	0.597																																							uc003wca.2		NA																	0					0						c.(148-150)CCT>CTT		hypothetical protein LOC135927							53.0	56.0	55.0					7																	142636792		2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142636792C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636792C>T							p.P50L	NM_178829	NP_849151	Q96L11	CG034_HUMAN			1	190	+	Melanoma(164;0.059)		25					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.149C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	14.55	2.568735	0.45798	.	.	ENSG00000165131	ENST00000409607	.	.	.	3.99	2.02	0.26589	.	0.780519	0.10724	N	0.641351	T	0.33381	0.0861	L	0.42245	1.32	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.31833	-0.9929	9	0.66056	D	0.02	-11.1561	6.1122	0.20108	0.0:0.7402:0.0:0.2598	.	25	Q96L11	CG034_HUMAN	L	50	.	ENSP00000386450:P50L	P	+	2	0	C7orf34	142346914	0.000000	0.05858	0.011000	0.14972	0.120000	0.20174	-0.019000	0.12546	0.383000	0.24910	-0.387000	0.06579	CCT		0.597	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		44	13	0	0	0	0.003214	0	44	13				
OR9A2	135924	broad.mit.edu	37	7	142723979	142723979	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:142723979G>T	ENST00000350513.2	-	1	303	c.241C>A	c.(241-243)Ctt>Att	p.L81I		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AATCCCCAAAGCATCATGGGG	0.478																																							uc003wcc.1		NA																	0				skin(1)	1						c.(241-243)CTT>ATT		olfactory receptor, family 9, subfamily A,							103.0	100.0	101.0					7																	142723979		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723979G>T		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.241C>A	7.37:g.142723979G>T	ENSP00000316518:p.Leu81Ile						p.L81I	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	241	-	Melanoma(164;0.059)		81			Extracellular (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.241C>A	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078643	0.36662	.	.	ENSG00000179468	ENST00000350513	T	0.00364	7.81	4.38	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30658	U	0.009155	T	0.00754	0.0025	M	0.69463	2.115	0.25188	N	0.990159	D	0.89917	1.0	D	0.83275	0.996	T	0.41822	-0.9487	10	0.87932	D	0	-31.9176	10.5889	0.45298	0.0953:0.0:0.9047:0.0	.	81	Q8NGT5	OR9A2_HUMAN	I	81	ENSP00000316518:L81I	ENSP00000316518:L81I	L	-	1	0	OR9A2	142434101	0.845000	0.29573	0.953000	0.39169	0.170000	0.22686	1.198000	0.32223	1.207000	0.43291	-0.215000	0.12644	CTT		0.478	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			24	40	1	0	6.21321e-17	0.00278	8.63244e-17	24	40				
TAS2R41	259287	broad.mit.edu	37	7	143175593	143175593	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:143175593C>T	ENST00000408916.1	+	1	628	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	210					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTGAGGAGGCATACTCAGAG	0.463																																							uc003wdc.1		NA																	0				pancreas(1)|skin(1)	2						c.(628-630)CAT>TAT		taste receptor, type 2, member 41							68.0	72.0	71.0					7																	143175593		1991	4167	6158	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175593C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.628C>T	7.37:g.143175593C>T	ENSP00000386201:p.His210Tyr					uc003wda.2_Intron	p.H210Y	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	628	+	Melanoma(164;0.15)		210			Cytoplasmic (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.628C>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655748	0.47467	.	.	ENSG00000221855	ENST00000408916	T	0.03635	3.86	6.0	6.0	0.97389	.	0.074368	0.51477	U	0.000099	T	0.29355	0.0731	H	0.95004	3.61	0.43421	D	0.995578	D	0.89917	1.0	D	0.91635	0.999	T	0.21211	-1.0252	10	0.87932	D	0	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	210	P59536	T2R41_HUMAN	Y	210	ENSP00000386201:H210Y	ENSP00000386201:H210Y	H	+	1	0	TAS2R41	142885715	0.956000	0.32656	0.140000	0.22221	0.043000	0.13939	3.473000	0.53122	2.848000	0.98002	0.655000	0.94253	CAT		0.463	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			36	8	0	0	0	0.002836	0	36	8				
OR6B1	135946	broad.mit.edu	37	7	143701656	143701656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:143701656C>A	ENST00000408922.2	+	1	635	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATCTCTCCTGCACAGACATGT	0.473																																							uc003wdt.1		NA																	0				ovary(1)	1						c.(565-567)TGC>TGA		olfactory receptor, family 6, subfamily B,							147.0	141.0	143.0					7																	143701656		2038	4231	6269	SO:0001587	stop_gained	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701656C>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.567C>A	7.37:g.143701656C>A	ENSP00000386151:p.Cys189*						p.C189*	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	567	+	Melanoma(164;0.0783)		189			Extracellular (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Nonsense_Mutation	SNP	ENST00000408922.2	37	c.567C>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754364	0.89843	.	.	ENSG00000221813	ENST00000408922	.	.	.	5.17	4.28	0.50868	.	0.000000	0.40640	U	0.001043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3581	0.49627	0.0:0.9124:0.0:0.0876	.	.	.	.	X	189	.	ENSP00000386151:C189X	C	+	3	2	OR6B1	143332589	0.004000	0.15560	1.000000	0.80357	0.977000	0.68977	0.093000	0.15086	1.395000	0.46643	0.655000	0.94253	TGC		0.473	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			21	56	1	0	8.10497e-08	0.010504	9.39749e-08	21	56				
NOBOX	135935	broad.mit.edu	37	7	144096865	144096865	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:144096865G>T	ENST00000467773.1	-	6	1138	c.1139C>A	c.(1138-1140)gCc>gAc	p.A380D	NOBOX_ENST00000223140.5_Missense_Mutation_p.A263D|NOBOX_ENST00000483238.1_Missense_Mutation_p.A348D	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	380					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTGACTGCTGGCAGGGCCAGG	0.537																																							uc011kue.1		NA																	0				ovary(1)	1						c.(1138-1140)GCC>GAC		NOBOX oogenesis homeobox							71.0	78.0	76.0					7																	144096865		1953	4142	6095	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096865G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1139C>A	7.37:g.144096865G>T	ENSP00000419457:p.Ala380Asp						p.A380D	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			6	1139	-	Melanoma(164;0.14)		380					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.1139C>A		.	.	.	.	.	.	.	.	.	.	G	11.01	1.512772	0.27123	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.93547	-2.98;-3.24;-2.99	5.4	3.42	0.39159	.	1.453780	0.04208	N	0.331245	D	0.89983	0.6873	L	0.42245	1.32	0.09310	N	1	B	0.26547	0.152	B	0.20955	0.032	T	0.77613	-0.2522	10	0.31617	T	0.26	-1.6111	7.7363	0.28817	0.0:0.1729:0.6334:0.1937	.	380	O60393	NOBOX_HUMAN	D	348;380;263;137	ENSP00000419565:A348D;ENSP00000419457:A380D;ENSP00000223140:A263D	ENSP00000223140:A263D	A	-	2	0	NOBOX	143727798	0.001000	0.12720	0.004000	0.12327	0.835000	0.47333	0.680000	0.25306	1.221000	0.43506	0.650000	0.86243	GCC		0.537	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		13	2	1	0	4.3838e-07	0.001855	4.96386e-07	13	2				
CNTNAP2	26047	broad.mit.edu	37	7	146829583	146829583	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:146829583C>A	ENST00000361727.3	+	8	1846	c.1330C>A	c.(1330-1332)Caa>Aaa	p.Q444K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	444	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAAGATGAGCCAAATCGATAT	0.408										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1330-1332)CAA>AAA		cell recognition molecule Caspr2 precursor							115.0	96.0	103.0					7																	146829583		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829583C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1330C>A	7.37:g.146829583C>A	ENSP00000354778:p.Gln444Lys	HNSCC(39;0.1)					p.Q444K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1846	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	444			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1330C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	2.978	-0.211009	0.06140	.	.	ENSG00000174469	ENST00000361727	T	0.78481	-1.18	5.7	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.204882	0.32106	N	0.006575	T	0.61974	0.2390	N	0.19112	0.55	0.80722	D	1	B	0.19445	0.036	B	0.27380	0.079	T	0.55655	-0.8107	10	0.05351	T	0.99	.	14.2249	0.65853	0.1499:0.8501:0.0:0.0	.	444	Q9UHC6	CNTP2_HUMAN	K	444	ENSP00000354778:Q444K	ENSP00000354778:Q444K	Q	+	1	0	CNTNAP2	146460516	0.117000	0.22190	0.982000	0.44146	0.291000	0.27294	0.876000	0.28092	2.686000	0.91538	0.591000	0.81541	CAA		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			29	7	1	0	6.38683e-12	0.008361	8.06275e-12	29	7				
CNTNAP2	26047	broad.mit.edu	37	7	147092857	147092857	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:147092857G>A	ENST00000361727.3	+	10	2171	c.1655G>A	c.(1654-1656)tGt>tAt	p.C552Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	552	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTGACATGTGTGCGATCATA	0.433										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1654-1656)TGT>TAT		cell recognition molecule Caspr2 precursor							148.0	130.0	136.0					7																	147092857		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092857G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1655G>A	7.37:g.147092857G>A	ENSP00000354778:p.Cys552Tyr	HNSCC(39;0.1)					p.C552Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2171	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	552			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1655G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283574	0.80803	.	.	ENSG00000174469	ENST00000361727	D	0.99804	-6.83	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000001	D	0.99785	0.9910	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97117	0.9808	10	0.87932	D	0	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	552	Q9UHC6	CNTP2_HUMAN	Y	552	ENSP00000354778:C552Y	ENSP00000354778:C552Y	C	+	2	0	CNTNAP2	146723790	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	TGT		0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			54	8	0	0	0	0.00361	0	54	8				
EZH2	2146	broad.mit.edu	37	7	148544290	148544290	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:148544290C>A	ENST00000460911.1	-	2	189	c.101G>T	c.(100-102)cGa>cTa	p.R34L	EZH2_ENST00000320356.2_Missense_Mutation_p.R34L|EZH2_ENST00000476773.1_Missense_Mutation_p.R34L|EZH2_ENST00000541220.1_Missense_Mutation_p.R34L|EZH2_ENST00000483967.1_Missense_Mutation_p.R34L|EZH2_ENST00000350995.2_Missense_Mutation_p.R34L|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000478654.1_Missense_Mutation_p.R34L			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	34	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTCATCAGCTCGTCTGAACCT	0.378			Mis		DLBCL																																		uc003wfd.1		NA		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(100-102)CGA>CTA		enhancer of zeste 2 isoform a							139.0	138.0	138.0					7																	148544290		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148544290C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.101G>T	7.37:g.148544290C>A	ENSP00000419711:p.Arg34Leu					EZH2_uc011kug.1_Missense_Mutation_p.R34L|EZH2_uc003wfb.1_Missense_Mutation_p.R34L|EZH2_uc003wfc.1_Missense_Mutation_p.R34L|EZH2_uc011kuh.1_Missense_Mutation_p.R34L|EZH2_uc011kui.1_Missense_Mutation_p.R34L|EZH2_uc011kuj.1_RNA	p.R34L	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		2	267	-	Melanoma(164;0.15)		34			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.101G>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121690	0.94385	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.94092	0.8106	L	0.47190	1.495	0.80722	D	1	D;D;D;P;D;D	0.89917	1.0;0.988;0.998;0.956;0.988;0.999	D;P;D;B;P;D	0.87578	0.998;0.765;0.91;0.241;0.765;0.985	D	0.93979	0.7256	10	0.66056	D	0.02	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	34;34;34;34;34;34	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	L	34	ENSP00000417062:R34L;ENSP00000320147:R34L;ENSP00000419711:R34L;ENSP00000223193:R34L;ENSP00000443219:R34L;ENSP00000419050:R34L;ENSP00000419856:R34L	ENSP00000320147:R34L	R	-	2	0	EZH2	148175223	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.715000	0.74697	2.764000	0.94973	0.650000	0.86243	CGA		0.378	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		77	83	1	0	3.41413e-29	0.00361	5.63871e-29	77	83				
ZNF282	8427	broad.mit.edu	37	7	148895563	148895563	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:148895563G>A	ENST00000262085.3	+	2	409	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	ZNF282_ENST00000479907.1_Missense_Mutation_p.V102M	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	102					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGGACTGTGGTGGCTGCCAT	0.617																																							uc003wfm.2		NA																	0					0						c.(304-306)GTG>ATG		zinc finger protein 282							41.0	40.0	41.0					7																	148895563		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148895563G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.304G>A	7.37:g.148895563G>A	ENSP00000262085:p.Val102Met					ZNF282_uc011kun.1_Missense_Mutation_p.V102M|ZNF282_uc003wfn.2_Missense_Mutation_p.V42M|ZNF282_uc003wfo.2_Missense_Mutation_p.V42M	p.V102M	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	2	409	+	Melanoma(164;0.15)		102					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.304G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380286	0.42207	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.10099	2.91;4.7	4.26	4.26	0.50523	.	0.000000	0.38381	N	0.001701	T	0.22126	0.0533	L	0.38175	1.15	0.35402	D	0.791652	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	1.0;0.998;0.999;0.998	T	0.13845	-1.0494	10	0.54805	T	0.06	-31.0212	12.5196	0.56052	0.0:0.0:1.0:0.0	.	102;53;74;102	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	M	17;102;102	ENSP00000262085:V102M;ENSP00000418840:V102M	ENSP00000262085:V102M	V	+	1	0	ZNF282	148526496	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	3.117000	0.50407	2.096000	0.63516	0.313000	0.20887	GTG		0.617	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		41	5	0	0	0	0.007835	0	41	5				
SSPO	23145	broad.mit.edu	37	7	149480302	149480302	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:149480302G>A	ENST00000378016.2	+	0	2184							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGTTCCAGGTGGCCGGCAAGG	0.622																																							uc010lpk.2		NA																	0					0						c.(2182-2184)GTG>GTA		SCO-spondin precursor							90.0	95.0	93.0					7																	149480302		2139	4245	6384			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149480302G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480302G>A						SSPO_uc010lpl.1_Silent_p.V63V	p.V728V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		16	2184	+	Melanoma(164;0.165)|Ovarian(565;0.177)		728			VWFD 2.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.2184G>A																																																																																					0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				16	13	0	0	0	0.003163	0	16	13				
GIMAP7	168537	broad.mit.edu	37	7	150217137	150217137	+	Silent	SNP	G	G	T	rs114459899	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150217137G>T	ENST00000313543.4	+	2	232	c.75G>T	c.(73-75)gcG>gcT	p.A25A		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	25	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCAACAGCGAACACCATCC	0.512																																							uc003whk.2		NA																	0				pancreas(1)|skin(1)	2						c.(73-75)GCG>GCT		GTPase, IMAP family member 7							71.0	63.0	66.0					7																	150217137		2203	4300	6503	SO:0001819	synonymous_variant	168537						GTP binding	g.chr7:150217137G>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.75G>T	7.37:g.150217137G>T							p.A25A	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	205	+			25						Silent	SNP	ENST00000313543.4	37	c.75G>T	CCDS5903.1																																																																																				0.512	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		43	8	1	0	6.2361e-21	0.007835	9.34208e-21	43	8				
GIMAP4	55303	broad.mit.edu	37	7	150266999	150266999	+	Nonsense_Mutation	SNP	C	C	T	rs199802079		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150266999C>T	ENST00000255945.2	+	2	185	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	GIMAP4_ENST00000461940.1_Nonsense_Mutation_p.Q4*|GIMAP4_ENST00000494750.1_Intron	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	4						cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATGGCAGCCCAATACGGCAG	0.512																																							uc003whl.2		NA																	0				ovary(1)	1						c.(10-12)CAA>TAA		GTPase, IMAP family member 4							90.0	77.0	81.0					7																	150266999		2203	4300	6503	SO:0001587	stop_gained	55303						GTP binding	g.chr7:150266999C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.10C>T	7.37:g.150266999C>T	ENSP00000255945:p.Gln4*					GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Nonsense_Mutation_p.Q4*	p.Q4*	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	92	+			4						Nonsense_Mutation	SNP	ENST00000255945.2	37	c.10C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578878	0.65878	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938;ENST00000479232	.	.	.	3.89	2.91	0.33838	.	4.412020	0.01531	U	0.018807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	8.7603	0.34669	0.0:0.7671:0.2329:0.0	.	.	.	.	X	4	.	ENSP00000255945:Q4X	Q	+	1	0	GIMAP4	149897932	0.000000	0.05858	0.032000	0.17829	0.004000	0.04260	-0.162000	0.10012	2.179000	0.69175	0.650000	0.86243	CAA		0.512	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		31	7	0	0	0	0.004878	0	31	7				
NOS3	4846	broad.mit.edu	37	7	150704224	150704224	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150704224C>A	ENST00000297494.3	+	17	2329	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	NOS3_ENST00000461406.1_Missense_Mutation_p.P452T	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGGCATACCCCCACTTCTG	0.687																																							uc003wif.2		NA																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1972-1974)CCC>ACC		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						99.0	101.0	100.0					7																	150704224		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704224C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1972C>A	7.37:g.150704224C>A	ENSP00000297494:p.Pro658Thr					NOS3_uc011kuy.1_Missense_Mutation_p.P452T	p.P658T	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2268	+	all_neural(206;0.219)		658			Flavodoxin-like.|FMN (By similarity).		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1972C>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699034	0.88830	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.61392	0.11;0.11	4.92	4.92	0.64577	Flavodoxin/nitric oxide synthase (2);	0.093670	0.45361	D	0.000362	T	0.75042	0.3796	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78244	-0.2279	10	0.87932	D	0	-8.5227	16.0526	0.80774	0.0:1.0:0.0:0.0	.	452;658	E7ESA7;P29474	.;NOS3_HUMAN	T	658;452	ENSP00000297494:P658T;ENSP00000417143:P452T	ENSP00000297494:P658T	P	+	1	0	NOS3	150335157	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.005000	0.70716	2.457000	0.83068	0.499000	0.49734	CCC		0.687	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		79	15	1	0	6.44082e-31	0.00361	1.08036e-30	79	15				
DPP6	1804	broad.mit.edu	37	7	154143368	154143368	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:154143368G>T	ENST00000377770.3	+	2	454	c.313G>T	c.(313-315)Gtc>Ttc	p.V105F	DPP6_ENST00000404039.1_Missense_Mutation_p.V41F|DPP6_ENST00000427557.1_Missense_Mutation_p.V43F|DPP6_ENST00000406326.1_Missense_Mutation_p.V105F|DPP6_ENST00000332007.3_Missense_Mutation_p.V43F|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	105					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGTCATTCTGGTCATCTGCTC	0.458																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(313-315)GTC>TTC		dipeptidyl-peptidase 6 isoform 1							156.0	159.0	158.0					7																	154143368		1975	4151	6126	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154143368G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.313G>T	7.37:g.154143368G>T	ENSP00000367001:p.Val105Phe					DPP6_uc003wli.2_Missense_Mutation_p.V41F|DPP6_uc003wlj.2_Missense_Mutation_p.V105F|DPP6_uc010lqh.1_Missense_Mutation_p.V43F|DPP6_uc003wlm.2_Missense_Mutation_p.V43F|DPP6_uc011kvq.1_Missense_Mutation_p.V43F	p.V105F	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		2	442	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	105			Helical; Signal-anchor for type II membrane protein; (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.313G>T		.	.	.	.	.	.	.	.	.	.	G	29.5	5.014712	0.93404	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.89	5.89	0.94794	.	0.118865	0.56097	D	0.000027	T	0.67915	0.2944	.	.	.	0.80722	D	1	D;D;D;D;D;D	0.89917	0.991;0.982;0.998;0.996;1.0;0.996	D;P;D;D;D;D	0.79108	0.924;0.894;0.956;0.913;0.992;0.913	T	0.69903	-0.5019	9	0.87932	D	0	-34.8924	19.246	0.93902	0.0:0.0:1.0:0.0	.	43;43;43;105;105;41	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	F	41;105;105;43;43	ENSP00000385578:V41F;ENSP00000384393:V105F;ENSP00000367001:V105F;ENSP00000328226:V43F;ENSP00000397303:V43F	ENSP00000328226:V43F	V	+	1	0	DPP6	153774301	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.065000	0.93941	2.784000	0.95788	0.643000	0.83706	GTC		0.458	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		29	7	1	0	3.99451e-17	0.009535	5.57789e-17	29	7				
CSMD1	64478	broad.mit.edu	37	8	2808674	2808674	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:2808674G>T	ENST00000520002.1	-	67	10721	c.10166C>A	c.(10165-10167)aCc>aAc	p.T3389N	CSMD1_ENST00000400186.3_Missense_Mutation_p.T3212N|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3389N|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3212N|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3211N|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3388N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3389						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGCTGAAGGTGGCATTCAC	0.453																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(10165-10167)ACC>AAC		CUB and Sushi multiple domains 1 precursor							96.0	91.0	92.0					8																	2808674		1943	4139	6082	SO:0001583	missense	64478					integral to membrane		g.chr8:2808674G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10166C>A	8.37:g.2808674G>T	ENSP00000430733:p.Thr3389Asn					CSMD1_uc011kwj.1_Missense_Mutation_p.T2703N|CSMD1_uc010lrg.2_Missense_Mutation_p.T1280N	p.T3389N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	66	10556	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3389			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10166C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.861185|4.861185	0.91433|0.91433	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.35048	.|1.34;1.45;1.47;1.33	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60038|0.60038	0.2238|0.2238	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.998;1.0	.|D;D;D	.|0.87578	.|0.994;0.973;0.998	T|T	0.58769|0.58769	-0.7578|-0.7578	5|10	.|0.41790	.|T	.|0.15	.|.	18.7261|18.7261	0.91714|0.91714	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3389;3389;3211	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	Q|N	2790|3212;3389;3250;3388;3211	.|ENSP00000383047:T3212N;ENSP00000430733:T3389N;ENSP00000441462:T3388N;ENSP00000446243:T3211N	.|ENSP00000320445:T3250N	H|T	-|-	3|2	2|0	CSMD1|CSMD1	2796081|2796081	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.849000|0.849000	0.48306|0.48306	9.631000|9.631000	0.98424|0.98424	2.401000|2.401000	0.81631|0.81631	0.637000|0.637000	0.83480|0.83480	CAC|ACC		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	4	1	0	4.68919e-08	0.008291	5.45661e-08	10	4				
CSMD1	64478	broad.mit.edu	37	8	2832080	2832081	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:2832080_2832081CC>AA	ENST00000520002.1	-	57	9190_9191	c.8635_8636GG>TT	c.(8635-8637)GGc>TTc	p.G2879F	CSMD1_ENST00000400186.3_Missense_Mutation_p.G2821F|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2879F|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2821F|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2820F|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2878F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2879	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACGACGGCGCCATAGGTAAAC	0.559																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8635-8637)GGC>TTC		CUB and Sushi multiple domains 1 precursor																																				SO:0001583	missense	64478					integral to membrane		g.chr8:2832080_2832081CC>AA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8635_8636delinsAA	8.37:g.2832080_2832081delinsAA	ENSP00000430733:p.Gly2879Phe					CSMD1_uc011kwj.1_Missense_Mutation_p.G2208F|CSMD1_uc010lrg.2_Missense_Mutation_p.G889F	p.G2879F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	56	9025_9026	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2879			Sushi 21.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	DNP	ENST00000520002.1	37	c.8635_8636GG>TT																																																																																					0.559	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	0	0	0	0	0.004672	0	7	0				
AGPAT5	55326	broad.mit.edu	37	8	6614774	6614774	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:6614774G>T	ENST00000285518.6	+	8	1272	c.960G>T	c.(958-960)aaG>aaT	p.K320N		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	320					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GTATCAAGAAGACTTTACCAT	0.393																																							uc003wqo.2		NA																	0					0						c.(958-960)AAG>AAT		1-acylglycerol-3-phosphate O-acyltransferase 5							104.0	103.0	103.0					8																	6614774		2203	4300	6503	SO:0001583	missense	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6614774G>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.960G>T	8.37:g.6614774G>T	ENSP00000285518:p.Lys320Asn					AGPAT5_uc011kwm.1_3'UTR	p.K320N	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	8	1272	+			320					Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	c.960G>T	CCDS34796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.69|18.69	3.678004|3.678004	0.68042|0.68042	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000285518|ENST00000518327	T|.	0.64618|.	-0.11|.	6.04|6.04	4.03|4.03	0.46877|0.46877	.|.	0.279785|.	0.45126|.	D|.	0.000386|.	T|T	0.73900|0.73900	0.3646|0.3646	M|M	0.84683|0.84683	2.71|2.71	0.54753|0.54753	D|D	0.999989|0.999989	P|.	0.40000|.	0.698|.	B|.	0.41088|.	0.347|.	T|T	0.75622|0.75622	-0.3254|-0.3254	10|5	0.23891|.	T|.	0.37|.	-8.8326|-8.8326	8.5245|8.5245	0.33296|0.33296	0.2187:0.0:0.7813:0.0|0.2187:0.0:0.7813:0.0	.|.	320|.	Q9NUQ2|.	PLCE_HUMAN|.	N|I	320|137	ENSP00000285518:K320N|.	ENSP00000285518:K320N|.	K|R	+|+	3|2	2|0	AGPAT5|AGPAT5	6602182|6602182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	1.773000|1.773000	0.38563|0.38563	1.566000|1.566000	0.49654|0.49654	0.561000|0.561000	0.74099|0.74099	AAG|AGA		0.393	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		18	5	1	0	1.45105e-14	0.006122	1.9182e-14	18	5				
TNKS	8658	broad.mit.edu	37	8	9634226	9634226	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:9634226G>C	ENST00000310430.6	+	27	3990	c.3964G>C	c.(3964-3966)Gcc>Ccc	p.A1322P	TNKS_ENST00000518281.1_Missense_Mutation_p.A1085P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1322					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GACCGCAACAGCCGCAGAGCA	0.468																																							uc003wss.2		NA																	0				lung(4)|ovary(2)|kidney(1)	7						c.(3964-3966)GCC>CCC		tankyrase, TRF1-interacting ankyrin-related							73.0	75.0	75.0					8																	9634226		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9634226G>C	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3964G>C	8.37:g.9634226G>C	ENSP00000311579:p.Ala1322Pro					TNKS_uc011kww.1_Missense_Mutation_p.A1085P	p.A1322P	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	27	3969	+			1322					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3964G>C	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181177	0.38511	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.63744	-0.06;0.04	5.97	5.0	0.66597	.	0.346876	0.33813	N	0.004538	T	0.39860	0.1094	N	0.08118	0	0.38240	D	0.941296	B	0.06786	0.001	B	0.04013	0.001	T	0.35151	-0.9800	10	0.40728	T	0.16	.	10.1231	0.42632	0.1733:0.0:0.8267:0.0	.	1322	O95271	TNKS1_HUMAN	P	1322;1085	ENSP00000311579:A1322P;ENSP00000429890:A1085P	ENSP00000311579:A1322P	A	+	1	0	TNKS	9671636	1.000000	0.71417	0.365000	0.25901	0.873000	0.50193	4.723000	0.61965	2.836000	0.97738	0.655000	0.94253	GCC		0.468	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		16	7	0	0	0	0.00499	0	16	7				
PINX1	54984	broad.mit.edu	37	8	10623340	10623340	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:10623340C>A	ENST00000314787.3	-	7	677	c.558G>T	c.(556-558)atG>atT	p.M186I	SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000506149.2_RNA|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_Missense_Mutation_p.G161C|PINX1_ENST00000426190.2_Missense_Mutation_p.G159C|SOX7_ENST00000553390.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	186				RM -> PV (in Ref. 2; AAK31790). {ECO:0000305}.	mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCAGTGCTGCCATCCGCTTGG	0.542																																							uc003wth.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(556-558)ATG>ATT		PIN2-interacting protein 1							164.0	169.0	167.0					8																	10623340		1989	4170	6159	SO:0001583	missense	54984				mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding	g.chr8:10623340C>A	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.558G>T	8.37:g.10623340C>A	ENSP00000318966:p.Met186Ile					SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Missense_Mutation_p.G161C	p.M186I	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN		Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)	7	591	-			186	RM -> PV (in Ref. 2; AAK31790).				B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.558G>T	CCDS47801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.51|16.51	3.143325|3.143325	0.57044|0.57044	.|.	.|.	ENSG00000254093|ENSG00000254093	ENST00000426190;ENST00000519088|ENST00000314787;ENST00000524114	.|T	.|0.18016	.|2.24	5.8|5.8	4.93|4.93	0.64822|0.64822	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25975|0.25975	0.0633|0.0633	M|M	0.87381|0.87381	2.88|2.88	0.27738|0.27738	N|N	0.944588|0.944588	D|P	0.69078|0.40431	0.997|0.717	P|B	0.60473|0.37480	0.875|0.251	T|T	0.37663|0.37663	-0.9696|-0.9696	8|10	0.56958|0.72032	D|D	0.05|0.01	.|.	10.8145|10.8145	0.46567|0.46567	0.0:0.9136:0.0:0.0864|0.0:0.9136:0.0:0.0864	.|.	161|186	Q96BK5-2|Q96BK5	.|PINX1_HUMAN	C|I	159;161|186;196	.|ENSP00000318966:M186I	ENSP00000411396:G159C|ENSP00000318966:M186I	G|M	-|-	1|3	0|0	PINX1|PINX1	10660750|10660750	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.626000|0.626000	0.37791|0.37791	4.758000|4.758000	0.62220|0.62220	1.456000|1.456000	0.47831|0.47831	0.655000|0.655000	0.94253|0.94253	GGC|ATG		0.542	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		76	36	1	0	1.38705e-31	0.00361	2.33672e-31	76	36				
SLC35G5	83650	broad.mit.edu	37	8	11189033	11189033	+	Missense_Mutation	SNP	G	G	T	rs145196437	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:11189033G>T	ENST00000382435.4	+	1	637	c.418G>T	c.(418-420)Gta>Tta	p.V140L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	140	EamA 1.					integral component of membrane (GO:0016021)											TTCTTCCACCGTATGCTCCGC	0.577																																							uc003wtp.1		NA																	0					0						c.(418-420)GTA>TTA		acyl-malonyl condensing enzyme							175.0	160.0	165.0					8																	11189033		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189033G>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.418G>T	8.37:g.11189033G>T	ENSP00000371872:p.Val140Leu						p.V140L	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	539	+			140			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.418G>T	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442137	0.43326	.	.	ENSG00000177710	ENST00000382435	T	0.52295	0.67	0.34	-0.68	0.11346	.	0.326418	0.21539	N	0.072939	T	0.42720	0.1215	L	0.34521	1.04	0.29817	N	0.831143	D	0.57257	0.979	P	0.59056	0.851	T	0.41963	-0.9479	10	0.27785	T	0.31	-5.6954	4.4891	0.11805	0.3302:0.0:0.6698:0.0	.	140	Q96KT7	S35G5_HUMAN	L	140	ENSP00000371872:V140L	ENSP00000371872:V140L	V	+	1	0	SLC35G5	11226443	0.904000	0.30761	0.414000	0.26521	0.069000	0.16628	0.484000	0.22308	-0.504000	0.06577	0.089000	0.15464	GTA		0.577	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		57	30	1	0	2.23044e-30	0.00361	3.72832e-30	57	30				
DLC1	10395	broad.mit.edu	37	8	13357256	13357256	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:13357256G>A	ENST00000276297.4	-	2	734	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	DLC1_ENST00000316609.5_Missense_Mutation_p.H109Y|DLC1_ENST00000511869.1_Missense_Mutation_p.H109Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	109					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCAGAAACATGCACTAGTGTT	0.418																																							uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(325-327)CAT>TAT		deleted in liver cancer 1 isoform 1							218.0	219.0	218.0					8																	13357256		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357256G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.325C>T	8.37:g.13357256G>A	ENSP00000276297:p.His109Tyr					DLC1_uc003wwn.2_Missense_Mutation_p.H109Y|DLC1_uc011kxy.1_Missense_Mutation_p.H109Y	p.H109Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	769	-			109					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.325C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837936	0.71373	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.37411	1.2;1.2;1.2	5.55	5.55	0.83447	.	0.000000	0.46145	D	0.000319	T	0.55065	0.1897	L	0.55990	1.75	0.33972	D	0.646922	D;D;P	0.89917	1.0;0.999;0.92	D;D;P	0.71870	0.975;0.973;0.516	T	0.65861	-0.6065	10	0.87932	D	0	.	15.4933	0.75629	0.0:0.0:0.8609:0.139	.	109;109;109	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Y	109	ENSP00000276297:H109Y;ENSP00000321034:H109Y;ENSP00000425878:H109Y	ENSP00000276297:H109Y	H	-	1	0	DLC1	13401627	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.000000	0.63940	2.789000	0.95967	0.655000	0.94253	CAT		0.418	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		86	42	0	0	0	0.00361	0	86	42				
SGCZ	137868	broad.mit.edu	37	8	13948043	13948043	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:13948043A>G	ENST00000382080.1	-	8	1563	c.848T>C	c.(847-849)cTc>cCc	p.L283P	SGCZ_ENST00000421524.2_Missense_Mutation_p.L236P	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	270					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCAGACGCAGAGTTCATACAC	0.478																																							uc003wwq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(847-849)CTC>CCC		sarcoglycan zeta							159.0	144.0	149.0					8																	13948043		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13948043A>G	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.848T>C	8.37:g.13948043A>G	ENSP00000371512:p.Leu283Pro					SGCZ_uc010lss.2_Missense_Mutation_p.L236P	p.L283P	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1508	-			270			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.848T>C	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138460	0.77775	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.96232	-3.95;-3.95	5.5	5.5	0.81552	.	0.060568	0.64402	D	0.000002	D	0.97445	0.9164	M	0.73217	2.22	0.80722	D	1	D;D	0.61697	0.986;0.99	P;P	0.62184	0.899;0.885	D	0.98083	1.0405	10	0.87932	D	0	.	15.0894	0.72180	1.0:0.0:0.0:0.0	.	236;283	Q08AT0;Q96LD1-2	.;.	P	283;236	ENSP00000371512:L283P;ENSP00000405224:L236P	ENSP00000371512:L283P	L	-	2	0	SGCZ	13992414	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	8.962000	0.93254	2.228000	0.72767	0.533000	0.62120	CTC		0.478	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		35	14	0	0	0	0.003271	0	35	14				
PCM1	5108	broad.mit.edu	37	8	17815210	17815210	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:17815210G>C	ENST00000519253.1	+	13	2217	c.1966G>C	c.(1966-1968)Gaa>Caa	p.E656Q	PCM1_ENST00000524226.1_Missense_Mutation_p.E657Q|PCM1_ENST00000325083.8_Missense_Mutation_p.E656Q			Q15154	PCM1_HUMAN	pericentriolar material 1	656					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGCTGAATTTGAACAGAAGAT	0.423			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																		uc003wyi.3		NA		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(1966-1968)GAA>CAA		pericentriolar material 1							84.0	84.0	84.0					8																	17815210		1986	4181	6167	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17815210G>C		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1966G>C	8.37:g.17815210G>C	ENSP00000431099:p.Glu656Gln					PCM1_uc011kyh.1_Missense_Mutation_p.E656Q|PCM1_uc003wyj.3_Missense_Mutation_p.E657Q|PCM1_uc010lta.1_Missense_Mutation_p.E695Q	p.E656Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	13	2388	+			656			Potential.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1966G>C		.	.	.	.	.	.	.	.	.	.	G	20.2	3.954448	0.73902	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.29917	3.62;2.69;1.55;1.55	5.25	5.25	0.73442	.	0.199202	0.51477	D	0.000091	T	0.53318	0.1789	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.998;0.998	P;D;P;P	0.77557	0.905;0.99;0.865;0.905	T	0.39165	-0.9627	10	0.35671	T	0.21	-20.7806	19.7317	0.96183	0.0:0.0:1.0:0.0	.	656;695;657;656	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	Q	656;695;656;657	ENSP00000327077:E656Q;ENSP00000428131:E695Q;ENSP00000431099:E656Q;ENSP00000430521:E657Q	ENSP00000327077:E656Q	E	+	1	0	PCM1	17859490	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.841000	0.62824	2.843000	0.97960	0.585000	0.79938	GAA		0.423	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		10	1	0	0	0	0.006214	0	10	1				
HR	55806	broad.mit.edu	37	8	21986575	21986575	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:21986575G>T	ENST00000381418.4	-	2	1589	c.109C>A	c.(109-111)Cac>Aac	p.H37N	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Missense_Mutation_p.H37N	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	37					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGCCCATGGTGCAGTCCATCT	0.677																																							uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(109-111)CAC>AAC		hairless protein isoform a							56.0	60.0	58.0					8																	21986575		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986575G>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.109C>A	8.37:g.21986575G>T	ENSP00000370826:p.His37Asn					HR_uc003xat.2_Missense_Mutation_p.H37N|HR_uc010lts.2_Missense_Mutation_p.H37N	p.H37N	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	774	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	37					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.109C>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	7.332	0.619067	0.14129	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72282	-0.63;-0.64	4.6	2.8	0.32819	.	0.630593	0.14142	N	0.338643	T	0.51787	0.1695	N	0.19112	0.55	0.09310	N	1	P;P;B	0.38504	0.634;0.493;0.361	B;B;B	0.36845	0.153;0.234;0.118	T	0.44513	-0.9323	10	0.62326	D	0.03	-0.3414	5.635	0.17532	0.1002:0.0:0.7068:0.193	.	37;37;37	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	N	37	ENSP00000370826:H37N;ENSP00000326765:H37N	ENSP00000326765:H37N	H	-	1	0	HR	22042520	0.701000	0.27806	0.067000	0.19924	0.066000	0.16364	3.237000	0.51344	0.560000	0.29169	0.561000	0.74099	CAC		0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			26	12	1	0	4.22769e-11	0.00632	5.27167e-11	26	12				
ADAM28	10863	broad.mit.edu	37	8	24199146	24199146	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:24199146G>T	ENST00000265769.4	+	16	1816	c.1706G>T	c.(1705-1707)gGg>gTg	p.G569V	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G316V|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	569	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTCAAGGTGGGTCGGATAAT	0.413																																					NSCLC(193;488 2149 22258 34798 40734)	NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(1705-1707)GGG>GTG		ADAM metallopeptidase domain 28 isoform 1							265.0	254.0	258.0					8																	24199146		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199146G>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1706G>T	8.37:g.24199146G>T	ENSP00000265769:p.Gly569Val					ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.G256V	p.G569V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1789	+		Prostate(55;0.0959)	569			Extracellular (Potential).|Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1706G>T	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.52|19.52	3.844021|3.844021	0.71488|0.71488	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649|ENST00000521629	T;T|.	0.20463|.	2.07;2.07|.	5.84|5.84	5.84|5.84	0.93424|0.93424	ADAM, cysteine-rich (2);|.	.|.	.|.	.|.	.|.	T|T	0.75561|0.75561	0.3866|0.3866	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.73799|0.73799	-0.3869|-0.3869	9|5	0.21540|.	T|.	0.41|.	.|.	17.6318|17.6318	0.88111|0.88111	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	569;569|.	B2RMV5;Q9UKQ2|.	.;ADA28_HUMAN|.	V|C	569;316|201	ENSP00000265769:G569V;ENSP00000380770:G316V|.	ENSP00000265769:G569V|.	G|W	+|+	2|3	0|0	ADAM28|ADAM28	24255091|24255091	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.443000|0.443000	0.32047|0.32047	7.380000|7.380000	0.79704|0.79704	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.413	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		46	24	1	0	1.05386e-31	0.00361	1.77695e-31	46	24				
ADAMDEC1	27299	broad.mit.edu	37	8	24251623	24251623	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:24251623C>T	ENST00000256412.4	+	4	546	c.326C>T	c.(325-327)cCc>cTc	p.P109L	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.P30L|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P30L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	109					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTACTCACCCAGAGGAGAG	0.463																																					Ovarian(147;687 1849 3699 25981 31337)	Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2		NA																	0				skin(2)	2						c.(325-327)CCC>CTC		ADAM-like, decysin 1 isoform 1							76.0	72.0	74.0					8																	24251623		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24251623C>T	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.326C>T	8.37:g.24251623C>T	ENSP00000256412:p.Pro109Leu					ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30L|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30L	p.P109L	NM_014479	NP_055294	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	4	546	+		Prostate(55;0.0181)	109					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.326C>T	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729467	0.48833	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.05786	3.39;3.39;3.39	5.46	5.46	0.80206	Peptidase M12B, propeptide (1);	0.308092	0.28527	N	0.015025	T	0.13713	0.0332	M	0.72624	2.21	0.40921	D	0.984314	P	0.47604	0.898	P	0.45449	0.481	T	0.00354	-1.1794	10	0.87932	D	0	-8.199	15.1532	0.72717	0.0:1.0:0.0:0.0	.	109	O15204	ADEC1_HUMAN	L	109;30;30	ENSP00000256412:P109L;ENSP00000442592:P30L;ENSP00000428993:P30L	ENSP00000256412:P109L	P	+	2	0	ADAMDEC1	24307568	0.001000	0.12720	0.687000	0.30102	0.076000	0.17211	1.172000	0.31908	2.706000	0.92434	0.563000	0.77884	CCC		0.463	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		7	4	0	0	0	0.004482	0	7	4				
TRIM35	23087	broad.mit.edu	37	8	27145298	27145298	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:27145298C>A	ENST00000305364.4	-	6	1334	c.1251G>T	c.(1249-1251)acG>acT	p.T417T	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	417	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCAGGGGCGACGTGGCTGGGT	0.667																																							uc003xfl.1		NA																	0					0						c.(1249-1251)ACG>ACT		tripartite motif-containing 35 isoform 2							43.0	38.0	39.0					8																	27145298		2203	4299	6502	SO:0001819	synonymous_variant	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145298C>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1251G>T	8.37:g.27145298C>A						TRIM35_uc010lup.1_3'UTR	p.T417T	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1333	-		Ovarian(32;2.61e-05)	417			B30.2/SPRY.		Q86XQ0|Q8WVA4	Silent	SNP	ENST00000305364.4	37	c.1251G>T	CCDS6056.2																																																																																				0.667	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		7	5	1	0	0.00198382	0.001984	0.00205832	7	5				
SCARA5	286133	broad.mit.edu	37	8	27737272	27737272	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:27737272C>A	ENST00000354914.3	-	8	1650	c.1165G>T	c.(1165-1167)Gcc>Tcc	p.A389S	SCARA5_ENST00000380385.2_Missense_Mutation_p.A164S	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	389					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATCATCGGGGCCTCCACGCCA	0.662																																							uc003xgj.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1165-1167)GCC>TCC		scavenger receptor class A, member 5							47.0	47.0	47.0					8																	27737272		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737272C>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1165G>T	8.37:g.27737272C>A	ENSP00000346990:p.Ala389Ser					SCARA5_uc010luz.2_Missense_Mutation_p.A164S	p.A389S	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1605	-		Ovarian(32;0.0218)	389			Extracellular (Potential).		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1165G>T	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263092	0.23051	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320	D;D	0.88509	-2.39;-2.37	4.96	2.03	0.26663	Speract/scavenger receptor-related (1);	0.412136	0.19953	N	0.102367	T	0.75079	0.3801	N	0.17838	0.53	0.29965	N	0.819018	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.60021	-0.7344	10	0.08837	T	0.75	.	6.2701	0.20949	0.1574:0.6648:0.0:0.1778	.	164;389	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	S	389;164;189	ENSP00000346990:A389S;ENSP00000369746:A164S	ENSP00000346990:A389S	A	-	1	0	SCARA5	27793191	0.000000	0.05858	0.217000	0.23759	0.118000	0.20060	0.049000	0.14099	0.559000	0.29153	0.655000	0.94253	GCC		0.662	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		13	6	1	0	4.3838e-07	0.001855	4.96386e-07	13	6				
WRN	7486	broad.mit.edu	37	8	31030607	31030607	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:31030607C>G	ENST00000298139.5	+	35	4537	c.4288C>G	c.(4288-4290)Ctt>Gtt	p.L1430V	RP11-363L24.3_ENST00000523365.1_RNA|RP11-363L24.3_ENST00000521252.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1430					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGGGGAGGTCTTTTTAGTTA	0.363			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(4288-4290)CTT>GTT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							85.0	81.0	82.0					8																	31030607		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31030607C>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.4288C>G	8.37:g.31030607C>G	ENSP00000298139:p.Leu1430Val					WRN_uc010lvk.2_Missense_Mutation_p.L897V	p.L1430V	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	35	5076	+		Breast(100;0.195)	1430					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.4288C>G	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670032	0.29693	.	.	ENSG00000165392	ENST00000298139	T	0.52057	0.68	4.38	3.46	0.39613	.	0.000000	0.47093	D	0.000247	T	0.44222	0.1283	L	0.34521	1.04	0.24507	N	0.994224	D;D	0.56968	0.978;0.978	P;P	0.52957	0.714;0.714	T	0.25710	-1.0124	10	0.56958	D	0.05	-13.0018	7.6824	0.28522	0.0:0.8803:0.0:0.1197	.	840;1430	Q59F09;Q14191	.;WRN_HUMAN	V	1430	ENSP00000298139:L1430V	ENSP00000298139:L1430V	L	+	1	0	WRN	31150149	1.000000	0.71417	0.837000	0.33122	0.028000	0.11728	1.655000	0.37345	1.372000	0.46190	0.591000	0.81541	CTT		0.363	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			10	3	0	0	0	0.001368	0	10	3				
KCNU1	157855	broad.mit.edu	37	8	36664969	36664969	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:36664969G>T	ENST00000399881.3	+	6	693		c.e6+1			NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1						multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAGACCAGGTAAATAGCCC	0.393																																							uc010lvw.2		NA																	0				ovary(1)	1						c.e6+1		potassium channel, subfamily U, member 1							119.0	115.0	116.0					8																	36664969		1851	4101	5952	SO:0001630	splice_region_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36664969G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.656+1G>T	8.37:g.36664969G>T						KCNU1_uc003xjw.2_Splice_Site	p.S219_splice	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	6	743	+									Splice_Site	SNP	ENST00000399881.3	37	c.656_splice	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660496	0.47572	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.471	0.75439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNU1	36784127	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	7.676000	0.84012	2.391000	0.81399	0.650000	0.86243	.		0.393	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	Intron	72	60	1	0	2.72615e-36	0.00361	4.71169e-36	72	60				
ERLIN2	11160	broad.mit.edu	37	8	37609233	37609233	+	Splice_Site	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:37609233G>A	ENST00000276461.5	+	10	806	c.739G>A	c.(739-741)Gat>Aat	p.D247N	ERLIN2_ENST00000519638.1_Splice_Site_p.D247N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	247	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGAAATTGAAGGTAAGCAGAA	0.527																																							uc003xke.3		NA																	0					0						c.(739-741)GAT>AAT		ER lipid raft associated 2 isoform 1							105.0	92.0	97.0					8																	37609233		2203	4300	6503	SO:0001630	splice_region_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37609233G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.739+1G>A	8.37:g.37609233G>A							p.D247N	NM_007175	NP_009106	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		10	854	+		Lung NSC(58;0.174)	247			Interaction with ERLIN1.|Lumenal (Potential).		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.739G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150969	0.94645	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.67523	-0.27;-0.27;-0.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77425	0.4128	L	0.41961	1.31	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.72646	-0.4230	9	.	.	.	-26.8463	20.1777	0.98189	0.0:0.0:1.0:0.0	.	247	O94905	ERLN2_HUMAN	N	247	ENSP00000276461:D247N;ENSP00000429621:D247N;ENSP00000428112:D247N	.	D	+	1	0	ERLIN2	37728391	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.574000	0.98184	2.941000	0.99782	0.655000	0.94253	GAT		0.527	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175	Missense_Mutation	18	23	0	0	0	0.006122	0	18	23				
TACC1	6867	broad.mit.edu	37	8	38699955	38699955	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:38699955G>T	ENST00000317827.4	+	10	2490	c.2111G>T	c.(2110-2112)gGg>gTg	p.G704V	TACC1_ENST00000520973.1_Missense_Mutation_p.G480V|TACC1_ENST00000348567.4_Missense_Mutation_p.G266V|TACC1_ENST00000330691.6_Missense_Mutation_p.G278V|TACC1_ENST00000519416.1_Missense_Mutation_p.G508V|TACC1_ENST00000520611.1_Missense_Mutation_p.G141V|TACC1_ENST00000379931.3_Missense_Mutation_p.G716V|TACC1_ENST00000276520.8_Missense_Mutation_p.G294V|TACC1_ENST00000520615.1_Missense_Mutation_p.G509V|TACC1_ENST00000518415.1_Missense_Mutation_p.G630V|RP11-723D22.3_ENST00000459965.2_RNA|TACC1_ENST00000443286.2_Missense_Mutation_p.G691V	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	704	Interaction with CH-TOG.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GTTCTGGAAGGGTTCAAGAAG	0.453																																							uc010lwp.2		NA																	0				ovary(1)	1						c.(2110-2112)GGG>GTG		transforming, acidic coiled-coil containing							113.0	115.0	115.0					8																	38699955		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38699955G>T	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.2111G>T	8.37:g.38699955G>T	ENSP00000321703:p.Gly704Val					TACC1_uc003xma.2_Missense_Mutation_p.G142V|TACC1_uc003xlz.2_Missense_Mutation_p.G509V|TACC1_uc003xmc.3_Missense_Mutation_p.G508V|TACC1_uc011lbz.1_Missense_Mutation_p.G691V|TACC1_uc003xmb.3_Missense_Mutation_p.G630V|TACC1_uc003xmf.3_Missense_Mutation_p.G294V|TACC1_uc011lca.1_Missense_Mutation_p.G687V|TACC1_uc011lcb.1_Missense_Mutation_p.G480V|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.G521V|TACC1_uc010lwq.2_Missense_Mutation_p.G520V	p.G704V	NM_006283	NP_006274	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		10	2490	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	704			|Interaction with CH-TOG.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.2111G>T	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.03|15.03	2.712398|2.712398	0.48517|0.48517	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866;ENST00000518809|ENST00000519416;ENST00000520615;ENST00000443286;ENST00000518415;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611	T;T|T;T;T;T;T;T;T;T;T;T;T	0.60797|0.60548	0.16;0.16|0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.24|5.24	4.36|4.36	0.52297|0.52297	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74635|0.74635	0.3742|0.3742	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D;D;P;D	.|0.89917	.|0.999;1.0;0.937;1.0;1.0;0.999;0.938;1.0	.|D;D;P;D;D;D;D;D	.|0.97110	.|0.997;0.999;0.733;1.0;0.998;0.984;0.927;0.999	T|T	0.78247|0.78247	-0.2278|-0.2278	8|10	0.87932|0.87932	D|D	0|0	-16.5382|-16.5382	15.0809|15.0809	0.72113|0.72113	0.0:0.0:0.857:0.143|0.0:0.0:0.857:0.143	.|.	.|480;480;691;716;704;294;508;630	.|E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-6;E7ET87;O75410-7	.|.;.;.;.;TACC1_HUMAN;.;.;.	C|V	461;353|508;509;691;630;278;266;704;716;294;480;141	ENSP00000428253:G461C;ENSP00000430306:G353C|ENSP00000428687:G508V;ENSP00000428450:G509V;ENSP00000393647:G691V;ENSP00000428706:G630V;ENSP00000332794:G278V;ENSP00000327818:G266V;ENSP00000321703:G704V;ENSP00000369263:G716V;ENSP00000276520:G294V;ENSP00000430959:G480V;ENSP00000429418:G141V	ENSP00000430306:G353C|ENSP00000276520:G294V	G|G	+|+	1|2	0|0	TACC1|TACC1	38819112|38819112	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.006000|0.006000	0.05464|0.05464	9.866000|9.866000	0.99616|0.99616	1.175000|1.175000	0.42826|0.42826	0.655000|0.655000	0.94253|0.94253	GGT|GGG		0.453	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		44	42	1	0	5.48756e-27	0.002852	8.88113e-27	44	42				
TM2D2	83877	broad.mit.edu	37	8	38848959	38848959	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:38848959C>A	ENST00000456397.2	-	4	630	c.537G>T	c.(535-537)aaG>aaT	p.K179N	TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_Missense_Mutation_p.K136N|TM2D2_ENST00000412303.1_Missense_Mutation_p.K136N|TM2D2_ENST00000397070.2_Missense_Mutation_p.K136N	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	179						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCGTCAACAGCTTCCCTACTG	0.488																																							uc003xmk.2		NA																	0					0						c.(535-537)AAG>AAT		TM2 domain containing 2 isoform a							148.0	121.0	131.0					8																	38848959		2203	4300	6503	SO:0001583	missense	83877					integral to membrane		g.chr8:38848959C>A	AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.537G>T	8.37:g.38848959C>A	ENSP00000416050:p.Lys179Asn					TM2D2_uc003xml.2_Missense_Mutation_p.K136N|TM2D2_uc003xmm.2_Missense_Mutation_p.K136N|TM2D2_uc003xmn.2_Missense_Mutation_p.K136N	p.K179N	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		4	620	-		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	179					B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	c.537G>T	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048589	0.75846	.	.	ENSG00000169490	ENST00000456845;ENST00000456397;ENST00000412303;ENST00000397070	.	.	.	5.78	0.947	0.19555	TM2 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.997;0.998	D	0.84747	0.0754	9	0.87932	D	0	-10.2853	10.2951	0.43618	0.0:0.6096:0.0:0.3904	.	136;179	Q9BX73-2;Q9BX73	.;TM2D2_HUMAN	N	136;179;136;136	.	ENSP00000380260:K136N	K	-	3	2	TM2D2	38968116	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.259000	0.32956	0.234000	0.21139	0.555000	0.69702	AAG		0.488	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940		14	36	1	0	4.14922e-12	0.004007	5.25513e-12	14	36				
ADAM18	8749	broad.mit.edu	37	8	39486892	39486892	+	Splice_Site	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:39486892G>T	ENST00000265707.5	+	7	567		c.e7-1		ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000541111.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTGTTTTCCAGATAAAAAATC	0.289																																							uc003xni.2		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.e7-1		a disintegrin and metalloprotease domain 18							44.0	46.0	45.0					8																	39486892		2202	4287	6489	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39486892G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.523-1G>T	8.37:g.39486892G>T						ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.I175_splice	p.I175_splice	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		7	523	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)						B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	SNP	ENST00000265707.5	37	c.523_splice	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.866135	0.17250	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	.	.	.	3.96	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.24211	N	0.995471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4761	0.16695	0.251:0.0:0.749:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM18	39606049	0.915000	0.31059	0.017000	0.16124	0.199000	0.23934	3.841000	0.55850	1.014000	0.39417	0.455000	0.32223	.		0.289	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Intron	19	23	1	0	1.01871e-10	0.008871	1.2557e-10	19	23				
IDO1	3620	broad.mit.edu	37	8	39776358	39776358	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:39776358C>A	ENST00000518237.1	+	4	967	c.328C>A	c.(328-330)Cct>Act	p.P110T	IDO1_ENST00000522495.1_Missense_Mutation_p.P110T|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	110					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TATTGCTGTTCCTTACTGCCA	0.338																																							uc003xnm.2		NA																	0				central_nervous_system(2)	2						c.(328-330)CCT>ACT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						105.0	103.0	104.0					8																	39776358		1868	4103	5971	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39776358C>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.328C>A	8.37:g.39776358C>A	ENSP00000430950:p.Pro110Thr					IDO1_uc003xnn.2_RNA	p.P110T	NM_002164	NP_002155	P14902	I23O1_HUMAN			4	442	+			110					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.328C>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358873	0.82353	.	.	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.81078	-1.45;-1.45;-1.45	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000003	D	0.92479	0.7612	H	0.94886	3.595	0.53005	D	0.999968	D	0.89917	1.0	D	0.97110	1.0	D	0.93949	0.7230	9	.	.	.	-16.6352	15.6737	0.77297	0.0:1.0:0.0:0.0	.	110	P14902	I23O1_HUMAN	T	110	ENSP00000428716:P110T;ENSP00000430505:P110T;ENSP00000430950:P110T	.	P	+	1	0	IDO1	39895515	1.000000	0.71417	0.981000	0.43875	0.908000	0.53690	6.068000	0.71201	2.767000	0.95098	0.557000	0.71058	CCT		0.338	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		25	62	1	0	6.36457e-07	0.003954	7.16478e-07	25	62				
SFRP1	6422	broad.mit.edu	37	8	41166586	41166586	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:41166586G>A	ENST00000220772.3	-	1	430	c.93C>T	c.(91-93)gcC>gcT	p.A31A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	31					bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CGTACTCGCTGGCCGAGCCCA	0.731																																							uc003xnt.2		NA																	0				central_nervous_system(1)	1						c.(91-93)GCC>GCT		secreted frizzled-related protein 1 precursor							24.0	25.0	25.0					8																	41166586		2201	4297	6498	SO:0001819	synonymous_variant	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166586G>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.93C>T	8.37:g.41166586G>A							p.A31A	NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	395	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	31					O00546|O14779	Silent	SNP	ENST00000220772.3	37	c.93C>T	CCDS34886.1																																																																																				0.731	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		18	9	0	0	0	0.006122	0	18	9				
AGPAT6	137964	broad.mit.edu	37	8	41469465	41469465	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:41469465C>G	ENST00000396987.3	+	6	1582	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	219					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			AATGTGTTACCGGATCTGCGT	0.458																																							uc003xnz.2		NA																	0					0						c.(655-657)CGG>GGG		lysophosphatidic acid acyltransferase zeta							129.0	104.0	112.0					8																	41469465		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41469465C>G	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.655C>G	8.37:g.41469465C>G	ENSP00000380184:p.Arg219Gly						p.R219G	NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		6	1594	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	219					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.655C>G	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824266	0.50739	.	.	ENSG00000158669	ENST00000396987	D	0.93076	-3.16	5.19	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	L	0.51914	1.62	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	D	0.87363	0.2345	10	0.45353	T	0.12	.	14.4271	0.67222	0.1471:0.8529:0.0:0.0	.	219	Q86UL3	GPAT4_HUMAN	G	219	ENSP00000380184:R219G	ENSP00000380184:R219G	R	+	1	2	AGPAT6	41588622	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.689000	0.46993	2.693000	0.91896	0.655000	0.94253	CGG		0.458	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		11	50	0	0	0	0.000978	0	11	50				
SLC20A2	6575	broad.mit.edu	37	8	42323300	42323300	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:42323300T>C	ENST00000342228.3	-	3	794	c.425A>G	c.(424-426)aAg>aGg	p.K142R	SLC20A2_ENST00000520179.1_Missense_Mutation_p.K142R|SLC20A2_ENST00000520262.1_Missense_Mutation_p.K142R	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	142					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATTACCAATCTTGACAAGCTC	0.388																																							uc010lxl.2		NA																	0				ovary(2)	2						c.(424-426)AAG>AGG		solute carrier family 20, member 2							122.0	114.0	117.0					8																	42323300		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42323300T>C		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.425A>G	8.37:g.42323300T>C	ENSP00000340465:p.Lys142Arg					SLC20A2_uc010lxm.2_Missense_Mutation_p.K142R|SLC20A2_uc003xpe.2_Missense_Mutation_p.K142R	p.K142R	NM_006749	NP_006740	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	1119	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	142			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342228.3	37	c.425A>G	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333452	0.41297	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91068	-2.78;-2.78;-2.78	5.27	5.27	0.74061	.	0.043685	0.85682	D	0.000000	D	0.86310	0.5902	L	0.46947	1.48	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.81284	-0.1002	10	0.16896	T	0.51	-27.7151	13.4105	0.60940	0.0:0.0:0.0:1.0	.	142	Q08357	S20A2_HUMAN	R	142	ENSP00000340465:K142R;ENSP00000429754:K142R;ENSP00000429712:K142R	ENSP00000340465:K142R	K	-	2	0	SLC20A2	42442457	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.077000	0.64419	2.108000	0.64289	0.533000	0.62120	AAG		0.388	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			46	25	0	0	0	0.00361	0	46	25				
POMK	84197	broad.mit.edu	37	8	42977541	42977541	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:42977541C>G	ENST00000331373.5	+	5	829	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										CATTAATTACCTGCACCACAG	0.502																																							uc003xpw.2		NA																	0					0						c.(574-576)CTG>GTG		protein kinase-like protein SgK196							74.0	64.0	67.0					8																	42977541		2203	4300	6503	SO:0001583	missense	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977541C>G		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.574C>G	8.37:g.42977541C>G	ENSP00000331258:p.Leu192Val						p.L192V	NM_032237	NP_115613	Q9H5K3	SG196_HUMAN			5	833	+			192			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.574C>G	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470997	0.43942	.	.	ENSG00000185900	ENST00000331373	T	0.39592	1.07	5.15	3.32	0.38043	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.93328	3.405	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.76394	-0.2975	9	.	.	.	-4.4544	10.4652	0.44602	0.0:0.8275:0.0:0.1725	.	192	Q9H5K3	SG196_HUMAN	V	192	ENSP00000331258:L192V	.	L	+	1	2	AC113191.1	43096698	1.000000	0.71417	0.997000	0.53966	0.204000	0.24138	1.634000	0.37123	1.287000	0.44583	0.591000	0.81541	CTG		0.502	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		16	48	0	0	0	0.00499	0	16	48				
POTEA	340441	broad.mit.edu	37	8	43197396	43197396	+	RNA	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:43197396G>A	ENST00000522175.2	+	0	1149							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATAGCGTCAGAGGATTATGA	0.358																																							uc003xpz.1		NA																	0				ovary(1)	1						c.(1285-1287)GAG>AAG		POTE ankyrin domain family, member A isoform 2							131.0	127.0	129.0					8																	43197396		1850	4091	5941			340441							g.chr8:43197396G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197396G>A						POTEA_uc003xqa.1_Missense_Mutation_p.E383K	p.E429K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			11	1328	+			429					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.1285G>A																																																																																					0.358	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		22	58	0	0	0	0.010504	0	22	58				
MCM4	4173	broad.mit.edu	37	8	48889288	48889288	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:48889288G>T	ENST00000262105.2	+	16	2751	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	RNU6-519P_ENST00000410590.1_RNA|MCM4_ENST00000523944.1_Missense_Mutation_p.A848S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	848					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GCGTGCCCTGGCAGATGATGA	0.488																																							uc003xqk.1		NA																	0				ovary(2)|skin(2)	4						c.(2542-2544)GCA>TCA		minichromosome maintenance complex component 4							152.0	138.0	143.0					8																	48889288		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48889288G>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2542G>T	8.37:g.48889288G>T	ENSP00000262105:p.Ala848Ser					MCM4_uc003xql.1_Missense_Mutation_p.A848S|MCM4_uc011ldi.1_Missense_Mutation_p.A835S	p.A848S	NM_182746	NP_877423	P33991	MCM4_HUMAN			17	2637	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	848					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2542G>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655857	0.67586	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000524276	T;T	0.02812	4.15;4.15	5.95	5.95	0.96441	.	0.092536	0.85682	D	0.000000	T	0.04952	0.0133	L	0.44542	1.39	0.80722	D	1	B;B	0.25441	0.126;0.126	B;B	0.21546	0.035;0.035	T	0.46965	-0.9153	10	0.44086	T	0.13	-24.7252	20.3931	0.98965	0.0:0.0:1.0:0.0	.	848;848	B3KMX0;P33991	.;MCM4_HUMAN	S	848;848;835;808;132	ENSP00000430194:A848S;ENSP00000262105:A848S	ENSP00000262105:A848S	A	+	1	0	MCM4	49051841	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	7.531000	0.81973	2.824000	0.97209	0.655000	0.94253	GCA		0.488	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		19	115	1	0	1.9806e-07	0.002299	2.27328e-07	19	115				
SNAI2	6591	broad.mit.edu	37	8	49832655	49832656	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:49832655_49832656CC>AA	ENST00000396822.1	-	3	781_782	c.424_425GG>TT	c.(424-426)GGg>TTg	p.G142L	SNAI2_ENST00000020945.1_Missense_Mutation_p.G142L			O43623	SNAI2_HUMAN	snail family zinc finger 2	142					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTTGGCCAGCCCAGAAAAAGTT	0.45																																							uc003xqp.2		NA																	0				ovary(2)	2						c.(424-426)GGG>TTG		snail 2																																				SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832655_49832656CC>AA	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.424_425delinsAA	8.37:g.49832655_49832656delinsAA	ENSP00000380034:p.Gly142Leu						p.G142L	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	588_589	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	142			C2H2-type 1.		B2R6P6|Q53FC1	Missense_Mutation	DNP	ENST00000396822.1	37	c.424_425GG>TT	CCDS6146.1																																																																																				0.450	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		32	71	0	0	0	0.004672	0	32	71				
OPRK1	4986	broad.mit.edu	37	8	54147573	54147573	+	Missense_Mutation	SNP	T	T	A	rs148980561	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:54147573T>A	ENST00000265572.3	-	3	653	c.356A>T	c.(355-357)tAc>tTc	p.Y119F	OPRK1_ENST00000524278.1_Missense_Mutation_p.Y30F|OPRK1_ENST00000520287.1_Missense_Mutation_p.Y119F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	119					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATTCATCAAGTAGACCGTACT	0.408																																							uc003xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(355-357)TAC>TTC		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	T	PHE/TYR	2,4404	4.2+/-10.8	0,2,2201	179.0	166.0	171.0		356	5.9	0.9	8	dbSNP_134	171	0,8600		0,0,4300	no	missense	OPRK1	NM_000912.3	22	0,2,6501	AA,AT,TT		0.0,0.0454,0.0154	benign	119/381	54147573	2,13004	2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147573T>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.356A>T	8.37:g.54147573T>A	ENSP00000265572:p.Tyr119Phe					OPRK1_uc003xri.1_Missense_Mutation_p.Y119F|OPRK1_uc010lyc.1_Missense_Mutation_p.Y30F	p.Y119F	NM_000912	NP_000903	P41145	OPRK_HUMAN			2	731	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	119			Extracellular (Potential).		E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.356A>T	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.009045	0.35415	4.54E-4	0.0	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.35973	1.28;1.28;1.28	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.051949	0.85682	D	0.000000	T	0.41328	0.1154	M	0.69248	2.105	0.80722	D	1	B	0.27625	0.183	B	0.35688	0.208	T	0.29274	-1.0017	10	0.34782	T	0.22	.	11.4832	0.50337	0.134:0.0:0.0:0.8659	.	119	P41145	OPRK_HUMAN	F	119;30;119;105	ENSP00000265572:Y119F;ENSP00000430923:Y30F;ENSP00000429706:Y119F	ENSP00000265572:Y119F	Y	-	2	0	OPRK1	54310126	1.000000	0.71417	0.933000	0.37362	0.316000	0.28119	4.824000	0.62701	2.266000	0.75297	0.528000	0.53228	TAC		0.408	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			45	36	0	0	0	0.003214	0	45	36				
RP1	6101	broad.mit.edu	37	8	55539845	55539845	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:55539845G>T	ENST00000220676.1	+	4	3551	c.3403G>T	c.(3403-3405)Gtg>Ttg	p.V1135L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1135					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGGCTCTTGGTGCTAAACCT	0.403																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(3403-3405)GTG>TTG		retinitis pigmentosa RP1 protein							86.0	78.0	81.0					8																	55539845		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539845G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3403G>T	8.37:g.55539845G>T	ENSP00000220676:p.Val1135Leu					RP1_uc011ldy.1_Intron	p.V1135L	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3551	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1135						Missense_Mutation	SNP	ENST00000220676.1	37	c.3403G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168420	0.38315	.	.	ENSG00000104237	ENST00000220676	T	0.28069	1.63	5.7	4.74	0.60224	.	0.268973	0.26029	N	0.026778	T	0.23649	0.0572	L	0.54323	1.7	0.29083	N	0.882555	P	0.37636	0.603	B	0.30646	0.118	T	0.24693	-1.0153	10	0.45353	T	0.12	.	7.2338	0.26057	0.074:0.1034:0.6517:0.1709	.	1135	P56715	RP1_HUMAN	L	1135	ENSP00000220676:V1135L	ENSP00000220676:V1135L	V	+	1	0	RP1	55702398	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.757000	0.38400	2.680000	0.91292	0.563000	0.77884	GTG		0.403	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		17	35	1	0	1.15088e-07	0.004007	1.32252e-07	17	35				
RP1	6101	broad.mit.edu	37	8	55541689	55541689	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:55541689A>T	ENST00000220676.1	+	4	5395	c.5247A>T	c.(5245-5247)aaA>aaT	p.K1749N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1749					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGCTTCTGAAAGAAAATCATT	0.418																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(5245-5247)AAA>AAT		retinitis pigmentosa RP1 protein							94.0	90.0	91.0					8																	55541689		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541689A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5247A>T	8.37:g.55541689A>T	ENSP00000220676:p.Lys1749Asn					RP1_uc011ldy.1_Intron	p.K1749N	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5395	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1749						Missense_Mutation	SNP	ENST00000220676.1	37	c.5247A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449017	0.63178	.	.	ENSG00000104237	ENST00000220676	T	0.43688	0.94	5.92	5.92	0.95590	.	0.249386	0.28307	N	0.015828	T	0.56746	0.2006	M	0.65498	2.005	0.32441	N	0.546684	D	0.69078	0.997	P	0.62435	0.902	T	0.69989	-0.4995	10	0.87932	D	0	.	8.6584	0.34077	0.8584:0.0:0.1416:0.0	.	1749	P56715	RP1_HUMAN	N	1749	ENSP00000220676:K1749N	ENSP00000220676:K1749N	K	+	3	2	RP1	55704242	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.683000	0.46943	2.260000	0.74910	0.528000	0.53228	AAA		0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		15	32	0	0	0	0.004007	0	15	32				
TMEM68	137695	broad.mit.edu	37	8	56675305	56675305	+	Missense_Mutation	SNP	G	G	C	rs527516488		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:56675305G>C	ENST00000434581.2	-	3	413	c.214C>G	c.(214-216)Cac>Gac	p.H72D	TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.H72D|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.H72D|TMEM68_ENST00000521229.1_Missense_Mutation_p.H72D			Q96MH6	TMM68_HUMAN	transmembrane protein 68	72						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTATAAATGTGTAAGAAAATA	0.343																																							uc003xsg.1		NA																	0				skin(1)	1						c.(214-216)CAC>GAC		transmembrane protein 68							90.0	93.0	92.0					8																	56675305		2203	4300	6503	SO:0001583	missense	137695					integral to membrane	acyltransferase activity	g.chr8:56675305G>C	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.214C>G	8.37:g.56675305G>C	ENSP00000395204:p.His72Asp					TMEM68_uc003xsh.1_Missense_Mutation_p.H72D|TMEM68_uc003xsi.1_Missense_Mutation_p.H72D	p.H72D	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		1	283	-			72					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.214C>G		.	.	.	.	.	.	.	.	.	.	G	19.03	3.747907	0.69533	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000522090;ENST00000522030;ENST00000523423;ENST00000520414;ENST00000521229;ENST00000522576	D;D;D	0.93133	-3.17;-3.17;-3.17	4.95	4.95	0.65309	.	0.050730	0.85682	D	0.000000	D	0.96626	0.8899	M	0.78049	2.395	0.58432	D	0.999993	D;D;P	0.76494	0.999;0.989;0.902	D;P;P	0.87578	0.998;0.77;0.467	D	0.96619	0.9458	10	0.52906	T	0.07	-12.7504	18.5701	0.91132	0.0:0.0:1.0:0.0	.	72;72;72	Q96MH6-3;Q96MH6-2;Q96MH6	.;.;TMM68_HUMAN	D	72	ENSP00000395204:H72D;ENSP00000335416:H72D;ENSP00000430542:H72D	ENSP00000335416:H72D	H	-	1	0	TMEM68	56837859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.067000	0.50010	2.446000	0.82766	0.561000	0.74099	CAC		0.343	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		38	31	0	0	0	0.004289	0	38	31				
CYP7B1	9420	broad.mit.edu	37	8	65517310	65517310	+	Nonsense_Mutation	SNP	G	G	A	rs72554620		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:65517310G>A	ENST00000310193.3	-	5	1335	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	388					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCTCCCTTTCGCACACAGTAG	0.453																																							uc003xvj.2		NA																	0				ovary(3)	3	GRCh37	CM982052	CYP7B1	M	rs72554620	c.(1162-1164)CGA>TGA		cytochrome P450, family 7, subfamily B,							141.0	135.0	137.0					8																	65517310		2203	4300	6503	SO:0001587	stop_gained	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517310G>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1162C>T	8.37:g.65517310G>A	ENSP00000310721:p.Arg388*						p.R388*	NM_004820	NP_004811	O75881	CP7B1_HUMAN			5	1366	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	388					B2RN07|Q9UNF5	Nonsense_Mutation	SNP	ENST00000310193.3	37	c.1162C>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096631	0.94197	.	.	ENSG00000172817	ENST00000310193	.	.	.	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1067	14.3164	0.66454	0.0:0.0:0.6908:0.3092	.	.	.	.	X	388	.	ENSP00000310721:R388X	R	-	1	2	CYP7B1	65679864	0.996000	0.38824	1.000000	0.80357	0.185000	0.23345	2.360000	0.44151	2.941000	0.99782	0.655000	0.94253	CGA		0.453	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			53	40	0	0	0	0.00361	0	53	40				
PREX2	80243	broad.mit.edu	37	8	69021769	69021769	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:69021769C>G	ENST00000288368.4	+	25	3334	c.3057C>G	c.(3055-3057)gaC>gaG	p.D1019E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1019					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGAAGAAGACTTAGAAACCC	0.463																																							uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3055-3057)GAC>GAG		DEP domain containing 2 isoform a							126.0	123.0	124.0					8																	69021769		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69021769C>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3057C>G	8.37:g.69021769C>G	ENSP00000288368:p.Asp1019Glu					PREX2_uc011lez.1_Missense_Mutation_p.D954E	p.D1019E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			25	3084	+			1019					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3057C>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065543	0.76187	.	.	ENSG00000046889	ENST00000288368	T	0.69306	-0.39	5.72	2.97	0.34412	.	.	.	.	.	T	0.73992	0.3658	L	0.61218	1.895	0.50171	D	0.999855	D	0.76494	0.999	D	0.72982	0.979	T	0.69296	-0.5182	9	0.25751	T	0.34	.	8.1901	0.31363	0.0:0.5897:0.0:0.4103	.	1019	Q70Z35	PREX2_HUMAN	E	1019	ENSP00000288368:D1019E	ENSP00000288368:D1019E	D	+	3	2	PREX2	69184323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.815000	0.27253	0.777000	0.33496	0.655000	0.94253	GAC		0.463	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		24	89	0	0	0	0.00333	0	24	89				
SULF1	23213	broad.mit.edu	37	8	70536307	70536307	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:70536307G>T	ENST00000260128.4	+	15	2442	c.1725G>T	c.(1723-1725)aaG>aaT	p.K575N	SULF1_ENST00000458141.2_Missense_Mutation_p.K575N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.K575N|SULF1_ENST00000402687.4_Missense_Mutation_p.K575N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	575					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACATTGCTAAGCGTCATGATG	0.498																																							uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1723-1725)AAG>AAT		sulfatase 1 precursor							76.0	66.0	69.0					8																	70536307		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70536307G>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1725G>T	8.37:g.70536307G>T	ENSP00000260128:p.Lys575Asn					SULF1_uc003xyd.2_Missense_Mutation_p.K575N|SULF1_uc003xye.2_Missense_Mutation_p.K575N|SULF1_uc003xyf.2_Missense_Mutation_p.K575N|SULF1_uc003xyg.2_Missense_Mutation_p.K575N|SULF1_uc003xyh.1_RNA	p.K575N	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		15	2442	+	Breast(64;0.0654)		575					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1725G>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664938	0.67700	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31	5.78	4.0	0.46444	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	M	0.62723	1.935	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	D	0.98628	1.0670	10	0.48119	T	0.1	.	11.3005	0.49302	0.2019:0.0:0.7981:0.0	.	575	Q8IWU6	SULF1_HUMAN	N	575	ENSP00000403040:K575N;ENSP00000260128:K575N;ENSP00000385704:K575N;ENSP00000390315:K575N	ENSP00000260128:K575N	K	+	3	2	SULF1	70698861	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.121000	0.50438	0.781000	0.33589	0.655000	0.94253	AAG		0.498	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		9	34	1	0	2.17888e-05	0.006214	2.37539e-05	9	34				
SULF1	23213	broad.mit.edu	37	8	70551059	70551059	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:70551059G>A	ENST00000260128.4	+	21	3234	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K	SULF1_ENST00000458141.2_Silent_p.K839K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.K839K|SULF1_ENST00000402687.4_Silent_p.K839K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	839					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAGGATATAAGCAGTGCAACC	0.388																																							uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(2515-2517)AAG>AAA		sulfatase 1 precursor							88.0	77.0	81.0					8																	70551059		2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70551059G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2517G>A	8.37:g.70551059G>A						SULF1_uc003xyd.2_Silent_p.K839K|SULF1_uc003xye.2_Silent_p.K839K|SULF1_uc003xyf.2_Silent_p.K839K|SULF1_uc003xyg.2_Silent_p.K839K|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR|SULF1_uc003xyj.1_5'UTR	p.K839K	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		21	3234	+	Breast(64;0.0654)		839					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.2517G>A	CCDS6204.1																																																																																				0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		14	51	0	0	0	0.003163	0	14	51				
ZFHX4	79776	broad.mit.edu	37	8	77768195	77768195	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:77768195G>T	ENST00000521891.2	+	10	9486	c.9038G>T	c.(9037-9039)gGg>gTg	p.G3013V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2987V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2968V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2968V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2968					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCCTCTGCGGGGTGAAGTAC	0.483										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8902-8904)GGG>GTG		zinc finger homeodomain 4							49.0	49.0	49.0					8																	77768195		1941	4137	6078	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768195G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9038G>T	8.37:g.77768195G>T	ENSP00000430497:p.Gly3013Val	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G3013V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2968V	p.G2968V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9290	+			2968			C2H2-type 18.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8903G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514550	0.44763	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.63;0.68;0.65;0.65	5.19	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.45361	U	0.000376	T	0.67040	0.2851	M	0.70275	2.135	0.80722	D	1	D;D;D	0.67145	0.972;0.984;0.996	P;D;D	0.69824	0.837;0.922;0.966	T	0.72020	-0.4416	10	0.66056	D	0.02	.	15.8469	0.78899	0.0:0.136:0.864:0.0	.	2968;2968;3013	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	3013;2997;2968;2968;2987	ENSP00000430497:G3013V;ENSP00000399605:G2968V;ENSP00000050961:G2968V;ENSP00000430848:G2987V	ENSP00000050961:G2968V	G	+	2	0	ZFHX4	77930750	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.824000	0.86668	1.388000	0.46506	0.655000	0.94253	GGG		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	15	1	0	1.45105e-14	0.006122	1.9182e-14	17	15				
LRRCC1	85444	broad.mit.edu	37	8	86027440	86027441	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:86027440_86027441TG>CT	ENST00000360375.3	+	5	799_800	c.650_651TG>CT	c.(649-651)cTG>cCT	p.L217P	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L197P	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	217	LRRCT.				mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCATCACAGCTGCAGTGCCTAG	0.337																																							uc003ycw.2		NA																	0					0						c.(649-651)CTG>CCT		sodium channel associated protein 2 isoform a																																				SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86027440_86027441TG>CT	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	Exception_encountered	8.37:g.86027440_86027441delinsCT	ENSP00000353538:p.Leu217Pro					LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Missense_Mutation_p.L124P|LRRCC1_uc003ycy.2_Missense_Mutation_p.L197P	p.L217P	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			5	804_805	+			217			LRRCT.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	DNP	ENST00000360375.3	37	c.650_651TG>CT	CCDS43750.1																																																																																				0.337	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		13	28	0	0	0	0.004672	0	13	28				
PSKH2	85481	broad.mit.edu	37	8	87076713	87076713	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:87076713G>T	ENST00000276616.2	-	2	407	c.333C>A	c.(331-333)gtC>gtA	p.V111V	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCCGCCGCAGGACGCTCAGCT	0.512																																							uc011lfy.1		NA																	0				stomach(2)|lung(2)|ovary(1)	5						c.(331-333)GTC>GTA		protein serine kinase H2							104.0	89.0	94.0					8																	87076713		2203	4300	6503	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076713G>T	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.333C>A	8.37:g.87076713G>T							p.V111V	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	333	-			111			Protein kinase.		A0AV22	Silent	SNP	ENST00000276616.2	37	c.333C>A	CCDS6240.1																																																																																				0.512	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		25	25	1	0	1.75199e-13	0.007291	2.26948e-13	25	25				
CNGB3	54714	broad.mit.edu	37	8	87680390	87680390	+	Missense_Mutation	SNP	G	G	T	rs142772954		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:87680390G>T	ENST00000320005.5	-	5	547	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	167					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TACAGCCGTGGGCTTTGCTTC	0.368																																							uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(499-501)CCC>CAC		cyclic nucleotide gated channel beta 3							111.0	100.0	103.0					8																	87680390		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87680390G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.500C>A	8.37:g.87680390G>T	ENSP00000316605:p.Pro167His					CNGB3_uc010maj.2_Missense_Mutation_p.P29H	p.P167H	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			5	546	-			167			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.500C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235336	0.58886	.	.	ENSG00000170289	ENST00000320005	T	0.61158	0.13	5.8	5.8	0.92144	.	0.132651	0.50627	D	0.000107	T	0.66127	0.2758	L	0.43152	1.355	0.32632	N	0.521811	D;D	0.65815	0.995;0.992	D;P	0.67548	0.952;0.897	T	0.72530	-0.4265	10	0.56958	D	0.05	.	11.2237	0.48871	0.0831:0.0:0.9169:0.0	.	167;167	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	167	ENSP00000316605:P167H	ENSP00000316605:P167H	P	-	2	0	CNGB3	87749506	0.997000	0.39634	1.000000	0.80357	0.637000	0.38172	3.717000	0.54911	2.902000	0.99343	0.650000	0.86243	CCC		0.368	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		17	30	1	0	1.99824e-07	0.00499	2.29081e-07	17	30				
CNGB3	54714	broad.mit.edu	37	8	87738759	87738759	+	Splice_Site	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:87738759C>A	ENST00000320005.5	-	3	385	c.338G>T	c.(337-339)aGc>aTc	p.S113I	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	113					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.S113N(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAATGCTCACCTGTTTGGACC	0.458																																							uc003ydx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(337-339)AGC>ATC		cyclic nucleotide gated channel beta 3							273.0	252.0	259.0					8																	87738759		2203	4300	6503	SO:0001630	splice_region_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87738759C>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.338+1G>T	8.37:g.87738759C>A							p.S113I	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			3	384	-			113			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.338G>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404591	0.25378	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	5.71	3.89	0.44902	.	0.431538	0.16835	U	0.197564	T	0.43299	0.1241	L	0.43923	1.385	0.38739	D	0.953853	B	0.30763	0.294	B	0.21708	0.036	T	0.38243	-0.9670	9	.	.	.	.	8.4551	0.32895	0.0:0.8474:0.0:0.1526	.	113	Q9NQW8	CNGB3_HUMAN	I	113	ENSP00000316605:S113I	.	S	-	2	0	CNGB3	87807875	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	1.957000	0.40392	2.687000	0.91594	0.655000	0.94253	AGC		0.458	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	Missense_Mutation	71	103	1	0	4.83677e-39	0.00361	8.50393e-39	71	103				
DCAF4L2	138009	broad.mit.edu	37	8	88886059	88886059	+	Silent	SNP	G	G	T	rs142584363	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:88886059G>T	ENST00000319675.3	-	1	237	c.141C>A	c.(139-141)cgC>cgA	p.R47R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	47										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CACGCAGCTCGCGAGCTATAC	0.498																																							uc003ydz.2		NA																	0				ovary(1)	1						c.(139-141)CGC>CGA		WD repeat domain 21C							101.0	91.0	94.0					8																	88886059		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88886059G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.141C>A	8.37:g.88886059G>T							p.R47R	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	238	-			47						Silent	SNP	ENST00000319675.3	37	c.141C>A	CCDS6245.1																																																																																				0.498	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		11	37	1	0	6.40141e-05	0.000978	6.88944e-05	11	37				
DPY19L4	286148	broad.mit.edu	37	8	95746894	95746894	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:95746894G>T	ENST00000414645.2	+	3	263	c.164G>T	c.(163-165)gGc>gTc	p.G55V		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	55						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G55D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTTTCATTGGCTGTCTTGCA	0.338																																							uc003ygx.2		NA																	1	Substitution - Missense(1)	p.G55D(1)	ovary(1)	ovary(2)	2						c.(163-165)GGC>GTC		dpy-19-like 4							96.0	89.0	92.0					8																	95746894		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95746894G>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.164G>T	8.37:g.95746894G>T	ENSP00000389630:p.Gly55Val					DPY19L4_uc003ygy.2_5'UTR	p.G55V	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			3	288	+	Breast(36;3.85e-06)		55			Helical; (Potential).		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.164G>T	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388020	0.82902	.	.	ENSG00000156162	ENST00000414645;ENST00000519176	T;T	0.68181	-0.31;0.67	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75825	-0.3181	10	0.51188	T	0.08	-5.971	18.7653	0.91869	0.0:0.0:1.0:0.0	.	55	Q7Z388	D19L4_HUMAN	V	55;26	ENSP00000389630:G55V;ENSP00000430417:G26V	ENSP00000389630:G55V	G	+	2	0	DPY19L4	95816070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.336000	0.90033	2.480000	0.83734	0.591000	0.81541	GGC		0.338	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		9	16	1	0	2.17888e-05	0.006214	2.37539e-05	9	16				
MATN2	4147	broad.mit.edu	37	8	98900453	98900453	+	Missense_Mutation	SNP	C	C	A	rs567767391	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:98900453C>A	ENST00000520016.1	+	1	249	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	MATN2_ENST00000524308.1_Missense_Mutation_p.P42Q|MATN2_ENST00000521689.1_Missense_Mutation_p.P42Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.P42Q			O00339	MATN2_HUMAN	matrilin 2	42						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGGACCCACCCGCAGACGGCC	0.642																																							uc003yic.2		NA																	0				ovary(2)	2						c.(124-126)CCG>CAG		matrilin 2 isoform a precursor							19.0	20.0	19.0					8																	98900453		1948	4139	6087	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98900453C>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.125C>A	8.37:g.98900453C>A	ENSP00000430487:p.Pro42Gln					MATN2_uc003yib.1_Missense_Mutation_p.P42Q|MATN2_uc010mbh.1_Missense_Mutation_p.P42Q|MATN2_uc003yid.2_Missense_Mutation_p.P42Q|MATN2_uc003yie.1_Missense_Mutation_p.P42Q	p.P42Q	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		2	356	+	Breast(36;1.43e-06)		42					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.125C>A	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738803	0.69304	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;T;D;T	0.82984	-1.64;-0.8;-1.67;-0.77	4.94	4.94	0.65067	.	0.000000	0.44285	D	0.000467	T	0.81346	0.4803	L	0.38175	1.15	0.31595	N	0.653384	P;P;P	0.52842	0.946;0.911;0.956	P;B;P	0.50136	0.497;0.397;0.632	D	0.84316	0.0513	10	0.72032	D	0.01	-21.3504	13.5363	0.61648	0.0:1.0:0.0:0.0	.	42;42;42	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	Q	42	ENSP00000429977:P42Q;ENSP00000254898:P42Q;ENSP00000430221:P42Q;ENSP00000430487:P42Q	ENSP00000254898:P42Q	P	+	2	0	MATN2	98969629	0.920000	0.31207	0.999000	0.59377	0.959000	0.62525	3.187000	0.50950	2.557000	0.86248	0.655000	0.94253	CCG		0.642	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			4	6	1	0	0.00024832	0.009096	0.000262719	4	6				
MATN2	4147	broad.mit.edu	37	8	98943632	98943632	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:98943632G>T	ENST00000520016.1	+	2	718	c.594G>T	c.(592-594)caG>caT	p.Q198H	MATN2_ENST00000524308.1_Missense_Mutation_p.Q198H|MATN2_ENST00000521689.1_Missense_Mutation_p.Q198H|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.Q198H			O00339	MATN2_HUMAN	matrilin 2	198	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GTGTGGGCCAGGTAGACTTCA	0.552																																							uc003yic.2		NA																	0				ovary(2)	2						c.(592-594)CAG>CAT		matrilin 2 isoform a precursor							44.0	49.0	47.0					8																	98943632		2199	4296	6495	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943632G>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.594G>T	8.37:g.98943632G>T	ENSP00000430487:p.Gln198His					MATN2_uc003yib.1_Missense_Mutation_p.Q198H|MATN2_uc010mbh.1_Missense_Mutation_p.Q198H|MATN2_uc003yid.2_Missense_Mutation_p.Q198H|MATN2_uc003yie.1_Missense_Mutation_p.Q198H|MATN2_uc010mbi.1_Missense_Mutation_p.Q72H	p.Q198H	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	825	+	Breast(36;1.43e-06)		198			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.594G>T	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.845865|3.845865	0.71603|0.71603	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	.|D;D;D;D	.|0.83419	.|-1.72;-1.72;-1.72;-1.72	5.97|5.97	-1.11|-1.11	0.09840|0.09840	.|von Willebrand factor, type A (3);	.|0.116069	.|0.39834	.|N	.|0.001251	T|T	0.80412|0.80412	0.4618|0.4618	N|N	0.16098|0.16098	0.37|0.37	0.37360|0.37360	D|D	0.911209|0.911209	.|D;P;D;D	.|0.76494	.|0.961;0.951;0.978;0.999	.|P;P;D;D	.|0.67382	.|0.905;0.847;0.917;0.951	T|T	0.79997|0.79997	-0.1567|-0.1567	5|10	.|0.72032	.|D	.|0.01	-25.2558|-25.2558	12.6121|12.6121	0.56556|0.56556	0.6183:0.0:0.3817:0.0|0.6183:0.0:0.3817:0.0	.|.	.|198;198;198;198	.|E9PF03;O00339-2;O00339;Q8N2G3	.|.;.;MATN2_HUMAN;.	C|H	22|198	.|ENSP00000429977:Q198H;ENSP00000254898:Q198H;ENSP00000430221:Q198H;ENSP00000430487:Q198H	.|ENSP00000254898:Q198H	G|Q	+|+	1|3	0|2	MATN2|MATN2	99012808|99012808	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.998000|0.998000	0.95712|0.95712	1.058000|1.058000	0.30504|0.30504	-0.557000|-0.557000	0.06126|0.06126	0.655000|0.655000	0.94253|0.94253	GGT|CAG		0.552	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			15	27	1	0	3.27435e-08	0.00245	3.81942e-08	15	27				
NCALD	83988	broad.mit.edu	37	8	102701577	102701577	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:102701577C>G	ENST00000311028.3	-	7	920	c.542G>C	c.(541-543)cGc>cCc	p.R181P	NCALD_ENST00000521599.1_Missense_Mutation_p.R181P|NCALD_ENST00000519508.2_Missense_Mutation_p.R181P|NCALD_ENST00000395923.1_Missense_Mutation_p.R181P|NCALD_ENST00000522951.1_Intron|KB-1107E3.1_ENST00000518749.1_RNA|NCALD_ENST00000220931.6_Missense_Mutation_p.R181P	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	181					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGCAGGAGGCGCACAATGGA	0.562																																							uc003yke.2		NA																	0					0						c.(541-543)CGC>CCC		neurocalcin delta							51.0	46.0	48.0					8																	102701577		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102701577C>G	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.542G>C	8.37:g.102701577C>G	ENSP00000310587:p.Arg181Pro					NCALD_uc003ykf.2_Missense_Mutation_p.R181P|NCALD_uc003ykg.2_Missense_Mutation_p.R181P|NCALD_uc003ykh.2_Missense_Mutation_p.R181P|NCALD_uc003yki.2_Missense_Mutation_p.R181P|NCALD_uc003ykj.2_Missense_Mutation_p.R181P|NCALD_uc003ykk.2_Missense_Mutation_p.R181P|NCALD_uc003ykl.2_Missense_Mutation_p.R181P	p.R181P	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		4	911	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		181					P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.542G>C	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343129	0.95783	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.6	5.6	0.85130	EF-hand-like domain (1);	.	.	.	.	T	0.77032	0.4071	M	0.76002	2.32	0.80722	D	1	D	0.55605	0.972	P	0.51266	0.664	T	0.79614	-0.1730	9	0.72032	D	0.01	.	19.9733	0.97292	0.0:1.0:0.0:0.0	.	181	P61601	NCALD_HUMAN	P	181	ENSP00000379256:R181P;ENSP00000310587:R181P;ENSP00000220931:R181P;ENSP00000428105:R181P;ENSP00000430476:R181P	ENSP00000220931:R181P	R	-	2	0	NCALD	102770753	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.771000	0.85420	2.804000	0.96469	0.655000	0.94253	CGC		0.562	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			8	33	0	0	0	0.00308	0	8	33				
ATP6V1C1	528	broad.mit.edu	37	8	104063301	104063301	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:104063301A>G	ENST00000395862.3	+	5	469	c.310A>G	c.(310-312)Agg>Ggg	p.R104G	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R29G|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R29G|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R104G	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	104					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTATATAACAAGGTTCCAGTG	0.318																																							uc003ykz.3		NA																	0					0						c.(310-312)AGG>GGG		ATPase, H+ transporting, lysosomal V1 subunit							56.0	54.0	54.0					8																	104063301		2202	4299	6501	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104063301A>G	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.310A>G	8.37:g.104063301A>G	ENSP00000379203:p.Arg104Gly					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.R29G|ATP6V1C1_uc003yla.2_Missense_Mutation_p.R104G|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.R29G	p.R104G	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		5	555	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		104						Missense_Mutation	SNP	ENST00000395862.3	37	c.310A>G	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577857	0.45902	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.48	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.83483	2.645	0.58432	D	0.999996	B	0.15719	0.014	B	0.20577	0.03	T	0.45556	-0.9253	10	0.46703	T	0.11	.	12.3637	0.55217	0.8588:0.1412:0.0:0.0	.	104	P21283	VATC1_HUMAN	G	29;104;29;104	ENSP00000428204:R29G;ENSP00000379203:R104G;ENSP00000430129:R29G;ENSP00000430282:R104G	ENSP00000379203:R104G	R	+	1	2	ATP6V1C1	104132477	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.176000	0.50863	0.900000	0.36469	0.477000	0.44152	AGG		0.318	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		28	22	0	0	0	0.009535	0	28	22				
SLC25A32	81034	broad.mit.edu	37	8	104415469	104415469	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:104415469G>C	ENST00000297578.4	-	4	641	c.475C>G	c.(475-477)Cca>Gca	p.P159A	SLC25A32_ENST00000543107.1_Missense_Mutation_p.P27A|SLC25A32_ENST00000523701.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	159					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGTCGGTGTGGGGAGTTAACA	0.338																																							uc003yll.2		NA																	0				ovary(1)	1						c.(475-477)CCA>GCA		solute carrier family 25, member 32	Folic Acid(DB00158)						119.0	117.0	118.0					8																	104415469		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104415469G>C	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.475C>G	8.37:g.104415469G>C	ENSP00000297578:p.Pro159Ala					SLC25A32_uc011lhr.1_Missense_Mutation_p.P27A	p.P159A	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		4	778	-			159			Solcar 2.		Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.475C>G	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	4.120	0.020474	0.08006	.	.	ENSG00000164933	ENST00000297578;ENST00000424899;ENST00000543107	T;T	0.77489	-1.1;-1.1	5.54	-7.72	0.01250	Mitochondrial carrier domain (2);	0.685114	0.15222	N	0.273884	T	0.41351	0.1155	N	0.02865	-0.47	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	10	0.14252	T	0.57	-0.1909	6.0248	0.19648	0.6567:0.1699:0.0885:0.0849	.	159	Q9H2D1	MFTC_HUMAN	A	159;143;27	ENSP00000297578:P159A;ENSP00000443497:P27A	ENSP00000297578:P159A	P	-	1	0	SLC25A32	104484645	0.000000	0.05858	0.033000	0.17914	0.230000	0.25150	-0.513000	0.06305	-0.928000	0.03761	-0.205000	0.12727	CCA		0.338	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		19	93	0	0	0	0.006122	0	19	93				
RIMS2	9699	broad.mit.edu	37	8	105263929	105263929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:105263929G>T	ENST00000436393.2	+	28	4226	c.3985G>T	c.(3985-3987)Gga>Tga	p.G1329*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.G1311*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.G1125*|RIMS2_ENST00000339750.2_Nonsense_Mutation_p.G247*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.G1150*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1373	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			TATGGTGATCGGATGGTTCAA	0.468										HNSCC(12;0.0054)																													uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3985-3987)GGA>TGA		regulating synaptic membrane exocytosis 2							178.0	176.0	177.0					8																	105263929		1889	4125	6014	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263929G>T	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		ENST00000436393.2:c.3985G>T	8.37:g.105263929G>T	ENSP00000390665:p.Gly1329*	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Nonsense_Mutation_p.G1311*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.G1125*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.G1150*	p.G1329*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		28	4226	+			1373					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.3985G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.842264	0.98519	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	.	.	.	X	1348;1311;1373;1150;1125;1329;247;247	.	ENSP00000262231:G1150X	G	+	1	0	RIMS2	105333105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	GGA		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		250	137	1	0	5.49557e-122	0.00361	1.03996e-121	250	137				
DCSTAMP	81501	broad.mit.edu	37	8	105361749	105361749	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:105361749A>G	ENST00000297581.2	+	2	1018	c.969A>G	c.(967-969)tcA>tcG	p.S323S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	323					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCATTTTCTCAGTGAGCAAGC	0.488																																							uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(967-969)TCA>TCG		dendritic cell-specific transmembrane protein							158.0	161.0	160.0					8																	105361749		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361749A>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.969A>G	8.37:g.105361749A>G							p.S323S	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	1018	+			323					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.969A>G	CCDS6301.1																																																																																				0.488	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		70	383	0	0	0	0.00361	0	70	383				
PKHD1L1	93035	broad.mit.edu	37	8	110397854	110397854	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:110397854T>A	ENST00000378402.5	+	6	668	c.564T>A	c.(562-564)atT>atA	p.I188I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	188	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTTAGGATTTTGAGGTAAT	0.294										HNSCC(38;0.096)																													uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(562-564)ATT>ATA		fibrocystin L precursor							59.0	57.0	58.0					8																	110397854		1799	4062	5861	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110397854T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.564T>A	8.37:g.110397854T>A		HNSCC(38;0.096)					p.I188I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		6	668	+			188			Extracellular (Potential).|IPT/TIG 2.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.564T>A	CCDS47911.1																																																																																				0.294	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	15	0	0	0	0.008291	0	9	15				
PKHD1L1	93035	broad.mit.edu	37	8	110464484	110464484	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:110464484T>A	ENST00000378402.5	+	42	6586	c.6482T>A	c.(6481-6483)aTc>aAc	p.I2161N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2161	IPT/TIG 14.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTGTCCACATCAGAGGTGTC	0.458										HNSCC(38;0.096)																													uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(6481-6483)ATC>AAC		fibrocystin L precursor							119.0	113.0	114.0					8																	110464484		1943	4145	6088	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110464484T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6482T>A	8.37:g.110464484T>A	ENSP00000367655:p.Ile2161Asn	HNSCC(38;0.096)					p.I2161N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		42	6586	+			2161			IPT/TIG 14.|Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.6482T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640715	0.47153	.	.	ENSG00000205038	ENST00000378402	T	0.75821	-0.97	5.86	4.68	0.58851	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.428399	0.23933	N	0.043124	T	0.78310	0.4263	M	0.90145	3.09	0.26862	N	0.967921	B	0.33637	0.42	B	0.36808	0.233	T	0.69877	-0.5026	10	0.31617	T	0.26	.	10.493	0.44762	0.1455:0.0:0.0:0.8545	.	2161	Q86WI1	PKHL1_HUMAN	N	2161	ENSP00000367655:I2161N	ENSP00000367655:I2161N	I	+	2	0	PKHD1L1	110533660	0.998000	0.40836	0.042000	0.18584	0.092000	0.18411	4.665000	0.61547	1.003000	0.39130	0.477000	0.44152	ATC		0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	29	0	0	0	0.004007	0	14	29				
PKHD1L1	93035	broad.mit.edu	37	8	110509245	110509245	+	Silent	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:110509245T>G	ENST00000378402.5	+	64	10529	c.10425T>G	c.(10423-10425)ctT>ctG	p.L3475L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3475					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATGTTCTCTTATACAAGGAT	0.358										HNSCC(38;0.096)																													uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10423-10425)CTT>CTG		fibrocystin L precursor							146.0	138.0	140.0					8																	110509245		1829	4090	5919	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509245T>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10425T>G	8.37:g.110509245T>G		HNSCC(38;0.096)					p.L3475L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10529	+			3475			PbH1 8.|Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10425T>G	CCDS47911.1																																																																																				0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		36	27	0	0	0	0.003755	0	36	27				
SLC30A8	169026	broad.mit.edu	37	8	118175669	118175669	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:118175669G>T	ENST00000456015.2	+	6	729	c.729G>T	c.(727-729)gaG>gaT	p.E243D	RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E194D|SLC30A8_ENST00000427715.2_Missense_Mutation_p.E194D|SLC30A8_ENST00000521243.1_Missense_Mutation_p.E194D	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	243					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTAGCCAGAGTATAAAATAG	0.388																																					Ovarian(162;1202 1922 6011 16223 52092)	Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	0				ovary(2)|skin(2)	4						c.(727-729)GAG>GAT		solute carrier family 30 member 8							122.0	125.0	124.0					8																	118175669		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175669G>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.729G>T	8.37:g.118175669G>T	ENSP00000415011:p.Glu243Asp					SLC30A8_uc010mcz.2_Missense_Mutation_p.E194D|SLC30A8_uc011lia.1_Missense_Mutation_p.E194D|SLC30A8_uc003yog.2_Missense_Mutation_p.E194D	p.E243D	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		6	959	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		243			Extracellular (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.729G>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	6.580	0.475412	0.12521	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.95	0.851	0.18989	.	0.205162	0.49916	N	0.000136	T	0.37348	0.1000	N	0.16903	0.455	0.46356	D	0.999003	B	0.10296	0.003	B	0.17722	0.019	T	0.04165	-1.0972	10	0.30854	T	0.27	-4.5806	3.3719	0.07224	0.2719:0.3721:0.2748:0.0812	.	243	Q8IWU4	ZNT8_HUMAN	D	194;194;194;243	ENSP00000428545:E194D;ENSP00000407505:E194D;ENSP00000431069:E194D;ENSP00000415011:E243D	ENSP00000407505:E194D	E	+	3	2	SLC30A8	118244850	0.965000	0.33210	0.998000	0.56505	0.291000	0.27294	0.187000	0.16998	0.035000	0.15519	-1.067000	0.02272	GAG		0.388	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		22	82	1	0	3.7963e-18	0.00333	5.41449e-18	22	82				
TAF2	6873	broad.mit.edu	37	8	120810006	120810006	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:120810006A>G	ENST00000378164.2	-	7	1171	c.873T>C	c.(871-873)taT>taC	p.Y291Y		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	291					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAATTTCTTCATAAAATTCAA	0.373																																							uc003you.2		NA																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(871-873)TAT>TAC		TBP-associated factor 2							100.0	96.0	98.0					8																	120810006		2203	4299	6502	SO:0001819	synonymous_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120810006A>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.873T>C	8.37:g.120810006A>G							p.Y291Y	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		7	1143	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		291					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.873T>C	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051046	0.19827	.	.	ENSG00000064313	ENST00000523904	.	.	.	6.07	3.67	0.42095	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56098	-0.8035	4	.	.	.	-23.8826	10.5431	0.45045	0.8698:0.0:0.1302:0.0	.	.	.	.	T	22	.	.	M	-	2	0	TAF2	120879187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.058000	0.41374	0.520000	0.28426	0.533000	0.62120	ATG		0.373	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	15	0	0	0	0.001984	0	5	15				
COL14A1	7373	broad.mit.edu	37	8	121267580	121267580	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:121267580A>G	ENST00000297848.3	+	23	3124	c.2854A>G	c.(2854-2856)Ata>Gta	p.I952V	COL14A1_ENST00000247781.3_Missense_Mutation_p.I857V|COL14A1_ENST00000309791.4_Missense_Mutation_p.I952V|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAGGGTTGTTATAGAATCCCT	0.453																																							uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2854-2856)ATA>GTA		collagen, type XIV, alpha 1 precursor							133.0	116.0	122.0					8																	121267580		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121267580A>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2854A>G	8.37:g.121267580A>G	ENSP00000297848:p.Ile952Val					COL14A1_uc003yoy.2_Missense_Mutation_p.I630V	p.I952V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		23	3119	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		952			Fibronectin type-III 8.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2854A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	3.261	-0.151187	0.06585	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.49	-3.5	0.04710	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.305555	0.34046	N	0.004310	T	0.30978	0.0782	L	0.29908	0.895	0.47994	D	0.999564	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.18429	-1.0337	10	0.11794	T	0.64	.	10.4656	0.44604	0.2903:0.5835:0.1262:0.0	.	952;952	Q05707-2;Q05707	.;COEA1_HUMAN	V	952;952;857;765	ENSP00000311809:I952V;ENSP00000297848:I952V;ENSP00000247781:I857V;ENSP00000409461:I765V	ENSP00000247781:I857V	I	+	1	0	COL14A1	121336761	0.000000	0.05858	0.007000	0.13788	0.171000	0.22731	-0.666000	0.05280	-0.758000	0.04690	0.454000	0.30748	ATA		0.453	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		33	53	0	0	0	0.009535	0	33	53				
KLHL38	340359	broad.mit.edu	37	8	124657999	124657999	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:124657999G>C	ENST00000325995.7	-	3	1749	c.1726C>G	c.(1726-1728)Cgc>Ggc	p.R576G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	576										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGACGTGCGGGGTATGCAC	0.582																																							uc003yqs.1		NA																	0					0						c.(1726-1728)CGC>GGC		kelch-like 38							102.0	107.0	105.0					8																	124657999		2101	4228	6329	SO:0001583	missense	340359							g.chr8:124657999G>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1726C>G	8.37:g.124657999G>C	ENSP00000321475:p.Arg576Gly						p.R576G	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			3	1750	-			576					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1726C>G	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	0.771	-0.765763	0.02996	.	.	ENSG00000175946	ENST00000325995	T	0.72505	-0.66	4.9	0.427	0.16489	.	0.692738	0.15600	N	0.253958	T	0.44664	0.1304	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.26258	-1.0108	10	0.33940	T	0.23	.	6.2845	0.21025	0.6092:0.0:0.3908:0.0	.	576	Q2WGJ6	KLH38_HUMAN	G	576	ENSP00000321475:R576G	ENSP00000321475:R576G	R	-	1	0	KLHL38	124727180	0.996000	0.38824	0.290000	0.24890	0.121000	0.20230	1.046000	0.30354	0.141000	0.18875	-0.463000	0.05309	CGC		0.582	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			32	38	0	0	0	0.003755	0	32	38				
FER1L6	654463	broad.mit.edu	37	8	125074115	125074115	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:125074115T>A	ENST00000522917.1	+	25	3376	c.3170T>A	c.(3169-3171)cTg>cAg	p.L1057Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.L1057Q|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1057	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACGAGCTTCTGCACCCGCCA	0.557																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3169-3171)CTG>CAG		fer-1-like 6							72.0	74.0	74.0					8																	125074115		1992	4207	6199	SO:0001583	missense	654463					integral to membrane		g.chr8:125074115T>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3170T>A	8.37:g.125074115T>A	ENSP00000428280:p.Leu1057Gln					uc003yqy.1_Intron	p.L1057Q	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		25	3376	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1057			Cytoplasmic (Potential).|C2 4.			Missense_Mutation	SNP	ENST00000522917.1	37	c.3170T>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379915	0.61845	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81499	-1.5;-1.5	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000003	D	0.90184	0.6932	M	0.83012	2.62	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.91540	0.5249	10	0.72032	D	0.01	-4.3621	15.5824	0.76455	0.0:0.0:0.0:1.0	.	1057	Q2WGJ9	FR1L6_HUMAN	Q	1057	ENSP00000428280:L1057Q;ENSP00000381982:L1057Q	ENSP00000381982:L1057Q	L	+	2	0	FER1L6	125143296	1.000000	0.71417	0.972000	0.41901	0.373000	0.29922	7.997000	0.88414	2.210000	0.71456	0.533000	0.62120	CTG		0.557	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		18	37	0	0	0	0.00499	0	18	37				
POU5F1B	5462	broad.mit.edu	37	8	128428463	128428463	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:128428463C>A	ENST00000465342.2	+	2	1509	c.352C>A	c.(352-354)Ccc>Acc	p.P118T	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P118T|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						CTGCACCGTCCCCCCTGGTGC	0.597																																							uc003ysf.2		NA																	0					0						c.(352-354)CCC>ACC		POU class 5 homeobox 1B							10.0	10.0	10.0					8																	128428463		692	1591	2283	SO:0001583	missense	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428463C>A	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.352C>A	8.37:g.128428463C>A	ENSP00000419298:p.Pro118Thr					uc003ysc.1_Intron|uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|uc011liu.1_RNA	p.P118T	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN			1	607	+			118					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	c.352C>A	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	C	3.398	-0.122889	0.06795	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.77877	-1.13;-1.13	1.19	1.19	0.21007	.	0.385573	0.19212	N	0.119906	T	0.63355	0.2504	L	0.57536	1.79	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.45571	-0.9252	10	0.02654	T	1	.	4.631	0.12502	0.3724:0.6275:0.0:0.0	.	118	Q06416	P5F1B_HUMAN	T	118	ENSP00000419298:P118T;ENSP00000375557:P118T	ENSP00000375557:P118T	P	+	1	0	POU5F1B	128497645	0.002000	0.14202	0.002000	0.10522	0.121000	0.20230	-0.180000	0.09754	0.985000	0.38656	0.121000	0.15741	CCC		0.597	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		11	16	1	0	0.000673444	0.008291	0.000705548	11	16				
ASAP1	50807	broad.mit.edu	37	8	131070229	131070229	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:131070229C>A	ENST00000518721.1	-	29	3513	c.3286G>T	c.(3286-3288)Gtc>Ttc	p.V1096F	ASAP1_ENST00000357668.1_Missense_Mutation_p.V1096F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1096	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.V1096I(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCCCCTGTGACGATAATCACT	0.498																																							uc003yta.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)	4						c.(3286-3288)GTC>TTC		development and differentiation enhancing factor							318.0	245.0	270.0					8																	131070229		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131070229C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.3286G>T	8.37:g.131070229C>A	ENSP00000429900:p.Val1096Phe					ASAP1_uc003ysz.1_Missense_Mutation_p.V907F|ASAP1_uc011liw.1_Missense_Mutation_p.V1089F	p.V1096F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			28	3314	-			1096			SH3.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.3286G>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.791515|4.791515	0.90367|0.90367	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.63417	.|-0.04;-0.04	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Src homology-3 domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85252|0.85252	0.5654|0.5654	H|H	0.94385|0.94385	3.53|3.53	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.89536|0.89536	0.3789|0.3789	5|10	.|0.87932	.|D	.|0	.|.	17.8947|17.8947	0.88883|0.88883	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1096;1096;1099	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	L|F	916;452|1099;1096;1096	.|ENSP00000350297:V1096F;ENSP00000429900:V1096F	.|ENSP00000344591:V1099F	R|V	-|-	2|1	0|0	ASAP1|ASAP1	131139411|131139411	1.000000|1.000000	0.71417|0.71417	0.931000|0.931000	0.37212|0.37212	0.777000|0.777000	0.43975|0.43975	7.696000|7.696000	0.84270|0.84270	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.498	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		53	54	1	0	8.99859e-20	0.00361	1.31743e-19	53	54				
ADCY8	114	broad.mit.edu	37	8	132052171	132052171	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:132052171T>A	ENST00000286355.5	-	1	2501	c.409A>T	c.(409-411)Agc>Tgc	p.S137C	ADCY8_ENST00000377928.3_Missense_Mutation_p.S137C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	137					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCGAGTTGCTAGGGGCACAG	0.607										HNSCC(32;0.087)																													uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(409-411)AGC>TGC		adenylate cyclase 8							16.0	15.0	15.0					8																	132052171		2202	4299	6501	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132052171T>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.409A>T	8.37:g.132052171T>A	ENSP00000286355:p.Ser137Cys	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.S137C	p.S137C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	665	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		137			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.409A>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030409	0.75504	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.66638	-0.22;-0.22	5.09	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	L	0.43152	1.355	0.40021	D	0.975409	D;D	0.59767	0.986;0.975	P;P	0.48368	0.575;0.575	T	0.66964	-0.5790	10	0.72032	D	0.01	.	9.2048	0.37282	0.0:0.0868:0.0:0.9132	.	137;137	E7EVL1;P40145	.;ADCY8_HUMAN	C	137	ENSP00000286355:S137C;ENSP00000367161:S137C	ENSP00000286355:S137C	S	-	1	0	ADCY8	132121353	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	4.829000	0.62737	1.936000	0.56123	0.379000	0.24179	AGC		0.607	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			6	2	0	0	0	0.001168	0	6	2				
TG	7038	broad.mit.edu	37	8	133975270	133975270	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:133975270G>T	ENST00000220616.4	+	29	5539	c.5499G>T	c.(5497-5499)atG>atT	p.M1833I	TG_ENST00000519543.1_5'Flank|TG_ENST00000542445.1_Missense_Mutation_p.M203I|TG_ENST00000377869.1_Missense_Mutation_p.M1776I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1833					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAGTCTATGGGATGTAGAA	0.478																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5497-5499)ATG>ATT		thyroglobulin precursor							282.0	259.0	267.0					8																	133975270		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133975270G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5499G>T	8.37:g.133975270G>T	ENSP00000220616:p.Met1833Ile					TG_uc010mdw.2_Missense_Mutation_p.M592I|TG_uc011ljb.1_Missense_Mutation_p.M202I|TG_uc011ljc.1_5'Flank|TG_uc010mdx.1_RNA	p.M1833I	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	29	5540	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1833			Type IIIB.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5499G>T	CCDS34944.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	4.967|4.967|4.967	0.179590|0.179590|0.179590	0.09443|0.09443|0.09443	.|.|.	.|.|.	ENSG00000042832|ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000518058	.|T;T;T|.	.|0.66099|.	.|0.02;0.02;-0.19|.	4.41|4.41|4.41	1.68|1.68|1.68	0.24146|0.24146|0.24146	.|.|.	.|1.451450|.	.|0.03798|.	.|N|.	.|0.264003|.	T|T|T	0.43656|0.43656|0.43656	0.1257|0.1257|0.1257	M|M|M	0.63428|0.63428|0.63428	1.95|1.95|1.95	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B|.	.|0.09022|.	.|0.001;0.002|.	.|B;B|.	.|0.09377|.	.|0.002;0.004|.	T|T|T	0.32534|0.32534|0.32534	-0.9903|-0.9903|-0.9903	5|10|5	.|0.51188|.	.|T|.	.|0.08|.	.|.|.	6.4017|6.4017|6.4017	0.21642|0.21642|0.21642	0.3028:0.0:0.6972:0.0|0.3028:0.0:0.6972:0.0|0.3028:0.0:0.6972:0.0	.|.|.	.|203;1833|.	.|F5GWW5;P01266|.	.|.;THYG_HUMAN|.	W|I|L	289|1776;639;1833;203|11	.|ENSP00000367100:M1776I;ENSP00000220616:M1833I;ENSP00000441693:M203I|.	.|ENSP00000220616:M1833I|.	G|M|W	+|+|+	1|3|2	0|0|0	TG|TG|TG	134044452|134044452|134044452	0.308000|0.308000|0.308000	0.24509|0.24509|0.24509	0.048000|0.048000|0.048000	0.18961|0.18961|0.18961	0.011000|0.011000|0.011000	0.07611|0.07611|0.07611	0.275000|0.275000|0.275000	0.18698|0.18698|0.18698	0.386000|0.386000|0.386000	0.24997|0.24997|0.24997	-0.253000|-0.253000|-0.253000	0.11424|0.11424|0.11424	GGG|ATG|TGG		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		60	114	1	0	9.40535e-28	0.00361	1.53631e-27	60	114				
TG	7038	broad.mit.edu	37	8	134108570	134108570	+	Missense_Mutation	SNP	G	G	T	rs35664324		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:134108570G>T	ENST00000220616.4	+	43	7565	c.7525G>T	c.(7525-7527)Ggg>Tgg	p.G2509W	SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.G642W|TG_ENST00000542445.1_Missense_Mutation_p.G879W|TG_ENST00000377869.1_Missense_Mutation_p.G2452W|SLA_ENST00000518565.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2509					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGCTCATTGGGAGTTCTCA	0.567																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7525-7527)GGG>TGG		thyroglobulin precursor							149.0	148.0	149.0					8																	134108570		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134108570G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7525G>T	8.37:g.134108570G>T	ENSP00000220616:p.Gly2509Trp					TG_uc010mdw.2_Missense_Mutation_p.G1268W|TG_uc011ljb.1_Missense_Mutation_p.G878W|TG_uc011ljc.1_Missense_Mutation_p.G642W|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	p.G2509W	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	43	7566	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2509					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7525G>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.70|18.70	3.680135|3.680135	0.68042|0.68042	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	D;D;D;D|.	0.86769|.	-2.17;-2.17;-2.17;-2.17|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Carboxylesterase, type B (1);|.	0.098719|.	0.45361|.	D|.	0.000374|.	D|D	0.88463|0.88463	0.6443|0.6443	H|H	0.98446|0.98446	4.235|4.235	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.92435|0.92435	0.5957|0.5957	10|5	0.87932|.	D|.	0|.	.|.	13.9081|13.9081	0.63848|0.63848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	642;879;2509|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	W|L	2452;1315;2509;879;642|964	ENSP00000367100:G2452W;ENSP00000220616:G2509W;ENSP00000441693:G879W;ENSP00000430430:G642W|.	ENSP00000220616:G2509W|.	G|W	+|+	1|2	0|0	TG|TG	134177752|134177752	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.889000|0.889000	0.51656|0.51656	5.889000|5.889000	0.69766|0.69766	2.335000|2.335000	0.79485|0.79485	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		65	87	1	0	2.34191e-24	0.00361	3.67932e-24	65	87				
ST3GAL1	6482	broad.mit.edu	37	8	134472091	134472091	+	Silent	SNP	C	C	T	rs200642820		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:134472091C>T	ENST00000319914.5	-	9	1966	c.939G>A	c.(937-939)acG>acA	p.T313T	ST3GAL1_ENST00000522652.1_Silent_p.T313T|ST3GAL1_ENST00000521180.1_Silent_p.T313T|ST3GAL1_ENST00000399640.2_Silent_p.T313T			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	313					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CGTGCACCCCCGTCTTGCGAA	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19567	0.0		0.0	False		,,,				2504	0.0						uc003yuk.2		NA																	0					0						c.(937-939)ACG>ACA		ST3 beta-galactoside alpha-2,3-sialyltransferase							166.0	154.0	158.0					8																	134472091		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472091C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.939G>A	8.37:g.134472091C>T						ST3GAL1_uc003yum.2_Silent_p.T313T	p.T313T	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		10	1768	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		313			Lumenal (Potential).		O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.939G>A	CCDS6373.1																																																																																				0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		49	76	0	0	0	0.00361	0	49	76				
ZFAT	57623	broad.mit.edu	37	8	135614607	135614607	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:135614607C>A	ENST00000377838.3	-	6	1529	c.1355G>T	c.(1354-1356)aGg>aTg	p.R452M	ZFAT_ENST00000520356.1_Missense_Mutation_p.R440M|ZFAT_ENST00000523399.1_Missense_Mutation_p.R390M|ZFAT_ENST00000429442.2_Missense_Mutation_p.R440M|ZFAT_ENST00000520214.1_Missense_Mutation_p.R440M|ZFAT_ENST00000520727.1_Missense_Mutation_p.R440M|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	452					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGGTGCTTCCTGACATGCAG	0.612																																							uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(1354-1356)AGG>ATG		zinc finger protein 406 isoform ZFAT-1							46.0	49.0	48.0					8																	135614607		2093	4222	6315	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614607C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1355G>T	8.37:g.135614607C>A	ENSP00000367069:p.Arg452Met					ZFAT_uc003yun.2_Missense_Mutation_p.R440M|ZFAT_uc003yuo.2_Missense_Mutation_p.R440M|ZFAT_uc010meh.2_Missense_Mutation_p.R440M|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R440M|ZFAT_uc010mej.2_Missense_Mutation_p.R390M|ZFAT_uc003yur.2_Missense_Mutation_p.R440M	p.R452M	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1530	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		452			C2H2-type 8.		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1355G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796416	0.70567	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91	5.9	5.9	0.94986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.062535	0.64402	D	0.000019	T	0.34658	0.0905	M	0.69463	2.115	0.48395	D	0.999641	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.996	T	0.00891	-1.1525	10	0.72032	D	0.01	-33.0469	19.2604	0.93966	0.0:1.0:0.0:0.0	.	390;440;440;452	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	M	440;440;440;452;440;390;440	ENSP00000427879:R440M;ENSP00000427831:R440M;ENSP00000394501:R440M;ENSP00000367069:R452M;ENSP00000428483:R440M;ENSP00000429091:R390M	ENSP00000367069:R452M	R	-	2	0	ZFAT	135683789	0.996000	0.38824	0.772000	0.31596	0.859000	0.49053	4.039000	0.57325	2.793000	0.96121	0.563000	0.77884	AGG		0.612	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		17	27	1	0	3.52763e-06	0.00499	3.90747e-06	17	27				
FAM135B	51059	broad.mit.edu	37	8	139165094	139165094	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:139165094C>A	ENST00000395297.1	-	13	1794	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	542								p.G542C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTCTGGACCTGGACTCCTT	0.502										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1624-1626)GGT>TGT		hypothetical protein LOC51059							79.0	78.0	78.0					8																	139165094		1946	4152	6098	SO:0001583	missense	51059							g.chr8:139165094C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1624G>T	8.37:g.139165094C>A	ENSP00000378710:p.Gly542Cys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G443C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G104C|FAM135B_uc003yvb.2_Missense_Mutation_p.G104C	p.G542C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1795	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		542					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1624G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473815	0.26423	.	.	ENSG00000147724	ENST00000395297	T	0.15372	2.43	5.45	3.64	0.41730	.	0.425162	0.24120	N	0.041370	T	0.29556	0.0737	L	0.60455	1.87	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.68943	0.961;0.961;0.817	T	0.06058	-1.0848	10	0.40728	T	0.16	-13.9082	4.8664	0.13611	0.183:0.6431:0.0:0.1739	.	542;542;542	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	542	ENSP00000378710:G542C	ENSP00000276737:G542C	G	-	1	0	FAM135B	139234276	0.000000	0.05858	0.150000	0.22450	0.865000	0.49528	-0.405000	0.07196	1.451000	0.47736	0.655000	0.94253	GGT		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		30	33	1	0	3.1745e-13	0.008361	4.09571e-13	30	33				
TRAPPC9	83696	broad.mit.edu	37	8	141381254	141381254	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:141381254C>T	ENST00000438773.2	-	8	1293	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.R485H|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R378H	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	387					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GATGCTGTAGCGCTGAATTTT	0.468																																							uc003yvj.2		NA																	0				skin(2)	2						c.(1159-1161)CGC>CAC		trafficking protein particle complex 9 isoform							41.0	42.0	41.0					8																	141381254		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381254C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1160G>A	8.37:g.141381254C>T	ENSP00000405060:p.Arg387His					TRAPPC9_uc003yvh.2_Missense_Mutation_p.R485H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R378H	p.R387H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			8	1294	-			387					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1160G>A	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027533	0.75390	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.65	4.78	0.61160	.	0.101427	0.64402	D	0.000001	T	0.76227	0.3958	M	0.73962	2.25	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.981;0.977	T	0.75130	-0.3426	9	0.30854	T	0.27	.	12.9746	0.58531	0.0:0.9251:0.0:0.0749	.	387;378;485	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	H	485;378;387	.	ENSP00000373978:R378H	R	-	2	0	TRAPPC9	141450436	1.000000	0.71417	0.882000	0.34594	0.489000	0.33432	7.433000	0.80362	1.398000	0.46701	0.455000	0.32223	CGC		0.468	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		9	14	0	0	0	0.008291	0	9	14				
AGO2	27161	broad.mit.edu	37	8	141554341	141554341	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:141554341C>T	ENST00000220592.5	-	14	1922	c.1810G>A	c.(1810-1812)Ggg>Agg	p.G604R	AGO2_ENST00000519980.1_Missense_Mutation_p.G604R	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	604	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TTCCCATCCCCGGCGGGGGGG	0.642																																							uc003yvn.2		NA																	0					0						c.(1810-1812)GGG>AGG		argonaute 2 isoform 1							96.0	106.0	103.0					8																	141554341		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141554341C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1810G>A	8.37:g.141554341C>T	ENSP00000220592:p.Gly604Arg					EIF2C2_uc010men.2_Missense_Mutation_p.G527R|EIF2C2_uc010meo.2_Missense_Mutation_p.G604R	p.G604R	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		14	1850	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	604			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1810G>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893995	0.91889	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.31769	1.48;1.48	5.35	4.47	0.54385	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	M	0.85630	2.765	0.80722	D	1	P;B	0.51351	0.944;0.423	P;P	0.52309	0.695;0.484	T	0.61397	-0.7071	10	0.87932	D	0	-19.4829	14.2079	0.65746	0.0:0.9274:0.0:0.0726	.	604;604	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	R	604	ENSP00000220592:G604R;ENSP00000430176:G604R	ENSP00000220592:G604R	G	-	1	0	EIF2C2	141623523	1.000000	0.71417	0.818000	0.32626	0.859000	0.49053	7.723000	0.84788	1.378000	0.46305	0.650000	0.86243	GGG		0.642	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			8	132	0	0	0	0.006214	0	8	132				
BAI1	575	broad.mit.edu	37	8	143558878	143558878	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:143558878A>T	ENST00000517894.1	+	6	2249	c.1355A>T	c.(1354-1356)cAa>cTa	p.Q452L	BAI1_ENST00000323289.5_Missense_Mutation_p.Q452L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	452	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGAGAAGCAAACCAAGTTC	0.652																																							uc003ywm.2		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1354-1356)CAA>CTA		brain-specific angiogenesis inhibitor 1							43.0	52.0	49.0					8																	143558878		2004	4156	6160	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558878A>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1355A>T	8.37:g.143558878A>T	ENSP00000430945:p.Gln452Leu						p.Q452L	NM_001702	NP_001693	O14514	BAI1_HUMAN			5	1538	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		452			Extracellular (Potential).|TSP type-1 3.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1355A>T		.	.	.	.	.	.	.	.	.	.	A	26.1	4.703660	0.88924	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.55588	0.51;0.51	4.26	4.26	0.50523	.	0.076037	0.53938	U	0.000055	T	0.72938	0.3523	M	0.82433	2.59	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.77464	-0.2578	10	0.66056	D	0.02	.	12.8314	0.57748	1.0:0.0:0.0:0.0	.	452	E9PBK0	.	L	452	ENSP00000430945:Q452L;ENSP00000313046:Q452L	ENSP00000313046:Q452L	Q	+	2	0	BAI1	143555880	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.080000	0.94040	1.661000	0.50771	0.454000	0.30748	CAA		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		25	31	0	0	0	0.003954	0	25	31				
TOP1MT	116447	broad.mit.edu	37	8	144403382	144403382	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:144403382C>T	ENST00000329245.4	-	8	1169	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	TOP1MT_ENST00000523676.1_Missense_Mutation_p.V281M|TOP1MT_ENST00000519148.1_Missense_Mutation_p.V281M|TOP1MT_ENST00000521193.1_Missense_Mutation_p.V281M	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	379					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GGCTTCTCCACCGGCACTCTG	0.637																																							uc003yxz.2		NA																	0				ovary(1)	1						c.(1135-1137)GTG>ATG		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						42.0	41.0	41.0					8																	144403382		2198	4293	6491	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144403382C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1135G>A	8.37:g.144403382C>T	ENSP00000328835:p.Val379Met					TOP1MT_uc011lkd.1_Missense_Mutation_p.V281M|TOP1MT_uc011lke.1_Missense_Mutation_p.V281M|TOP1MT_uc010mfb.2_Missense_Mutation_p.V281M|TOP1MT_uc011lkf.1_Missense_Mutation_p.V174M|TOP1MT_uc010mfd.1_Missense_Mutation_p.V174M	p.V379M	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		8	1154	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		379					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1135G>A	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593752	0.46214	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	3.83	3.83	0.44106	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.38959	U	0.001505	T	0.79021	0.4376	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.87186	0.2231	10	0.87932	D	0	-20.382	14.7032	0.69168	0.0:1.0:0.0:0.0	.	174;379	E7ESI1;Q969P6	.;TOP1M_HUMAN	M	379;281;281;281	ENSP00000328835:V379M;ENSP00000428369:V281M;ENSP00000429169:V281M;ENSP00000429181:V281M	ENSP00000328835:V379M	V	-	1	0	TOP1MT	144474757	1.000000	0.71417	0.029000	0.17559	0.014000	0.08584	6.306000	0.72810	1.641000	0.50575	0.407000	0.27541	GTG		0.637	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		7	3	0	0	0	0.001984	0	7	3				
ZC3H3	23144	broad.mit.edu	37	8	144620697	144620698	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:144620697_144620698CC>AA	ENST00000262577.5	-	2	870_871	c.839_840GG>TT	c.(838-840)gGG>gTT	p.G280V		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	280					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGCGGGGCCCCCCACTGAGCC	0.614																																							uc003yyd.2		NA																	0				skin(1)	1						c.(838-840)GGG>GTT		zinc finger CCCH-type containing 3																																				SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620697_144620698CC>AA	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.839_840delinsAA	8.37:g.144620697_144620698delinsAA	ENSP00000262577:p.Gly280Val						p.G280V	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	868_869	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		280					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	DNP	ENST00000262577.5	37	c.839_840GG>TT	CCDS6402.1																																																																																				0.614	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		46	64	0	0	0	0.004672	0	46	64				
Unknown	0	broad.mit.edu	37	9	17044	17044	+	IGR	SNP	G	G	C	rs372772202		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:17044G>C								None (None upstream) : MIR1302-2 (10612 downstream)																							GGGCAATGCCGGGGCCCAGGT	0.627																																							uc010mgm.1		NA																	0					0						c.(802-804)CCC>CCG		WAS protein family homolog 1							10.0	16.0	14.0					9																	17044		938	2004	2942	SO:0001628	intergenic_variant	375690							g.chr9:17044G>C																													9.37:g.17044G>C						WASH5P_uc003zfr.2_RNA|WASH5P_uc011llq.1_RNA|WASH5P_uc003zfu.1_Silent_p.P281P	p.P268P	NM_182905	NP_878908					7	947	-									Silent	SNP		37	c.804C>G																																																																																				0	0.627									4	29	0	0	0	0.009096	0	4	29				
DOCK8	81704	broad.mit.edu	37	9	404959	404959	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:404959G>A	ENST00000453981.1	+	27	3388	c.3276G>A	c.(3274-3276)atG>atA	p.M1092I	DOCK8_ENST00000382331.1_Missense_Mutation_p.M394I|DOCK8_ENST00000382329.1_Missense_Mutation_p.M559I|DOCK8_ENST00000432829.2_Missense_Mutation_p.M1024I|DOCK8_ENST00000469391.1_Missense_Mutation_p.M992I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1092					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCATTTCCATGAGGCTAGAGT	0.418																																							uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(3274-3276)ATG>ATA		dedicator of cytokinesis 8							128.0	108.0	114.0					9																	404959		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:404959G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3276G>A	9.37:g.404959G>A	ENSP00000408464:p.Met1092Ile					DOCK8_uc010mgu.2_Missense_Mutation_p.M394I|DOCK8_uc010mgv.2_Missense_Mutation_p.M992I|DOCK8_uc010mgw.1_Missense_Mutation_p.M394I|DOCK8_uc003zgk.2_Missense_Mutation_p.M550I	p.M1092I	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	27	3388	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1092					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3276G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113752	0.77210	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	L	0.46157	1.445	0.80722	D	1	D;B;B;B	0.63880	0.993;0.017;0.006;0.034	D;B;B;B	0.73708	0.981;0.029;0.013;0.024	T	0.01512	-1.1336	10	0.37606	T	0.19	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	394;992;559;1092	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	I	1092;1060;1024;992;394;559	ENSP00000408464:M1092I;ENSP00000394888:M1024I;ENSP00000419438:M992I;ENSP00000371768:M394I;ENSP00000371766:M559I	ENSP00000287364:M1060I	M	+	3	0	DOCK8	394959	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.700000	0.98707	2.837000	0.97791	0.655000	0.94253	ATG		0.418	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		35	8	0	0	0	0.007835	0	35	8				
SMARCA2	6595	broad.mit.edu	37	9	2088558	2088558	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:2088558G>T	ENST00000382203.1	+	19	3037	c.2828G>T	c.(2827-2829)aGa>aTa	p.R943I	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R943I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R943I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R943I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	943					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGGTGTTAAGACCATTTTTA	0.348																																							uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2827-2829)AGA>ATA		SWI/SNF-related matrix-associated							120.0	136.0	131.0					9																	2088558		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2088558G>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2828G>T	9.37:g.2088558G>T	ENSP00000371638:p.Arg943Ile					SMARCA2_uc003zhd.2_Missense_Mutation_p.R943I|SMARCA2_uc010mha.2_Missense_Mutation_p.R876I	p.R943I	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	19	2927	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	943					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2828G>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960417	0.92791	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.43	5.43	0.79202	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.994;0.996	D	0.99066	1.0832	10	0.87932	D	0	-19.9805	19.2492	0.93917	0.0:0.0:1.0:0.0	.	544;943;943	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	I	943	ENSP00000265773:R943I;ENSP00000349788:R943I;ENSP00000371638:R943I;ENSP00000371629:R943I	ENSP00000265773:R943I	R	+	2	0	SMARCA2	2078558	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.813000	0.99286	2.563000	0.86464	0.655000	0.94253	AGA		0.348	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		90	29	1	0	9.63447e-60	0.00361	1.78649e-59	90	29				
KDM4C	23081	broad.mit.edu	37	9	7011843	7011843	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:7011843C>T	ENST00000381309.3	+	13	2497	c.1932C>T	c.(1930-1932)caC>caT	p.H644H	KDM4C_ENST00000442236.2_Silent_p.H389H|KDM4C_ENST00000535193.1_Silent_p.H666H|KDM4C_ENST00000543771.1_Silent_p.H644H|KDM4C_ENST00000536108.1_Silent_p.H463H|KDM4C_ENST00000428870.2_Silent_p.H331H|KDM4C_ENST00000381306.3_Silent_p.H644H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	644					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TGAAGCCACACTGTGCCATCT	0.517																																							uc003zkh.2		NA																	0				ovary(1)	1						c.(1930-1932)CAC>CAT		jumonji domain containing 2C isoform 1							96.0	85.0	89.0					9																	7011843		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7011843C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1932C>T	9.37:g.7011843C>T						KDM4C_uc010mhu.2_Silent_p.H666H|KDM4C_uc011lmi.1_Silent_p.H644H|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.H644H|KDM4C_uc011lmk.1_Silent_p.H389H|KDM4C_uc011lml.1_Silent_p.H331H	p.H644H	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			13	2512	+			644					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.1932C>T	CCDS6471.1																																																																																				0.517	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		36	6	0	0	0	0.005524	0	36	6				
PTPRD	5789	broad.mit.edu	37	9	8485268	8485268	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:8485268A>T	ENST00000381196.4	-	26	3655	c.3112T>A	c.(3112-3114)Tgg>Agg	p.W1038R	PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000355233.5_Missense_Mutation_p.W627R|PTPRD_ENST00000397617.3_Missense_Mutation_p.W617R|PTPRD_ENST00000358503.5_Missense_Mutation_p.W1016R|PTPRD_ENST00000540109.1_Missense_Mutation_p.W1038R|PTPRD_ENST00000537002.1_Missense_Mutation_p.W624R|PTPRD_ENST00000360074.4_Missense_Mutation_p.W1025R|PTPRD_ENST00000397606.3_Missense_Mutation_p.W617R|PTPRD_ENST00000486161.1_Missense_Mutation_p.W627R|PTPRD_ENST00000397611.3_Missense_Mutation_p.W624R|PTPRD_ENST00000356435.5_Missense_Mutation_p.W1038R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1038	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGAATCTCCCAAGACAGCAAC	0.343										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3112-3114)TGG>AGG		protein tyrosine phosphatase, receptor type, D							75.0	76.0	75.0					9																	8485268		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8485268A>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3112T>A	9.37:g.8485268A>T	ENSP00000370593:p.Trp1038Arg	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.W627R|PTPRD_uc003zkq.2_Missense_Mutation_p.W627R|PTPRD_uc003zkr.2_Missense_Mutation_p.W622R|PTPRD_uc003zks.2_Missense_Mutation_p.W617R|PTPRD_uc003zkl.2_Missense_Mutation_p.W1029R|PTPRD_uc003zkm.2_Missense_Mutation_p.W1025R|PTPRD_uc003zkn.2_Missense_Mutation_p.W627R|PTPRD_uc003zko.2_Missense_Mutation_p.W624R	p.W1038R	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	28	3823	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1038			Fibronectin type-III 8.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3112T>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656765	0.67586	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.55	5.55	0.83447	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91781	0.7400	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.997;1.0;0.997;0.999;0.964	D	0.91790	0.5443	9	.	.	.	.	15.7005	0.77538	1.0:0.0:0.0:0.0	.	617;622;627;627;624;624;1025;1038;1038	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1038;1038;1025;1016;627;617;624;624;1038;627;617	ENSP00000370593:W1038R;ENSP00000348812:W1038R;ENSP00000353187:W1025R;ENSP00000351293:W1016R;ENSP00000347373:W627R;ENSP00000380741:W617R;ENSP00000380735:W624R;ENSP00000440515:W624R;ENSP00000438164:W1038R;ENSP00000417093:W627R;ENSP00000380731:W617R	.	W	-	1	0	PTPRD	8475268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.110000	0.64415	0.533000	0.62120	TGG		0.343	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			19	2	0	0	0	0.010504	0	19	2				
CNTLN	54875	broad.mit.edu	37	9	17464561	17464561	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:17464561G>C	ENST00000380647.3	+	21	3555	c.3471G>C	c.(3469-3471)caG>caC	p.Q1157H	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q1157H|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q1157H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1157					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AATTTCGACAGAAAGTAAATT	0.289																																							uc003zmz.2		NA																	0				pancreas(1)	1						c.(3466-3468)CAG>CAC		centlein isoform 1							75.0	78.0	77.0					9																	17464561		1796	4041	5837	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17464561G>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3471G>C	9.37:g.17464561G>C	ENSP00000370021:p.Gln1157His					CNTLN_uc003zmy.2_Missense_Mutation_p.Q1157H|CNTLN_uc010mio.2_Missense_Mutation_p.Q836H	p.Q1156H	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	21	3494	+			1157			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3468G>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745834	0.30955	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18338	2.22;2.22;2.48	5.26	3.4	0.38934	.	.	.	.	.	T	0.36441	0.0967	M	0.67953	2.075	0.27962	N	0.936747	D;D;D	0.71674	0.998;0.987;0.987	D;P;P	0.67382	0.951;0.875;0.875	T	0.08330	-1.0727	9	0.56958	D	0.05	.	10.8734	0.46896	0.2083:0.0:0.7917:0.0	.	1157;1157;1157	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	H	1157	ENSP00000370021:Q1157H;ENSP00000392798:Q1157H;ENSP00000262360:Q1157H	ENSP00000262360:Q1157H	Q	+	3	2	CNTLN	17454561	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	1.632000	0.37102	1.361000	0.45981	0.585000	0.79938	CAG		0.289	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		65	15	0	0	0	0.00361	0	65	15				
IFNA5	3442	broad.mit.edu	37	9	21304946	21304946	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:21304946G>A	ENST00000259555.4	-	1	366	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	104					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTGTCTAGAAGTGTCTCATCC	0.473																																							uc011lnh.1		NA																	0				ovary(1)	1						c.(310-312)CTT>TTT		interferon, alpha 5 precursor							123.0	115.0	118.0					9																	21304946		2203	4300	6503	SO:0001583	missense	3442				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21304946G>A		CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.310C>T	9.37:g.21304946G>A	ENSP00000259555:p.Leu104Phe						p.L104F	NM_002169	NP_002160	P01569	IFNA5_HUMAN		Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	310	-			104					Q52LX3	Missense_Mutation	SNP	ENST00000259555.4	37	c.310C>T	CCDS6502.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260807	0.39995	.	.	ENSG00000147873	ENST00000259555	T	0.04970	3.52	4.16	3.17	0.36434	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.765984	0.11694	N	0.538562	T	0.27731	0.0682	H	0.94925	3.6	0.09310	N	1	P	0.38677	0.642	P	0.55161	0.77	T	0.14783	-1.0460	10	0.66056	D	0.02	.	5.3947	0.16263	0.1138:0.2094:0.6768:0.0	.	104	P01569	IFNA5_HUMAN	F	104	ENSP00000259555:L104F	ENSP00000259555:L104F	L	-	1	0	IFNA5	21294946	0.000000	0.05858	0.021000	0.16686	0.006000	0.05464	-0.022000	0.12480	2.052000	0.61016	0.537000	0.68136	CTT		0.473	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169		44	57	0	0	0	0.009718	0	44	57				
PLAA	9373	broad.mit.edu	37	9	26920328	26920328	+	Missense_Mutation	SNP	T	T	C	rs570107266		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:26920328T>C	ENST00000397292.3	-	8	1511	c.1094A>G	c.(1093-1095)tAt>tGt	p.Y365C	PLAA_ENST00000520641.1_5'Flank|PLAA_ENST00000520884.1_Missense_Mutation_p.Y365C	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	365					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACTCCACTGATAGGCTTCGAC	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		15147	0.0		0.0	False		,,,				2504	0.001				Melanoma(175;2670 2735 14091 35526)	Melanoma(175;2670 2735 14091 35526)	uc003zqd.2		NA																	0					0						c.(1093-1095)TAT>TGT		phospholipase A2-activating protein							259.0	223.0	235.0					9																	26920328		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26920328T>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1094A>G	9.37:g.26920328T>C	ENSP00000380460:p.Tyr365Cys					PLAA_uc003zqe.2_Missense_Mutation_p.Y365C	p.Y365C	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	8	1519	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	365					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1094A>G	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421534	0.83559	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.60548	0.18;0.27	5.59	5.59	0.84812	PLAA family ubiquitin binding, PFU (1);	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.81682	2.555	0.80722	D	1	D;D	0.63880	0.991;0.993	D;D	0.67548	0.935;0.952	T	0.78940	-0.2006	10	0.54805	T	0.06	-14.2181	16.0453	0.80717	0.0:0.0:0.0:1.0	.	365;365	E5RIM3;Q9Y263	.;PLAP_HUMAN	C	365	ENSP00000380460:Y365C;ENSP00000429372:Y365C	ENSP00000380460:Y365C	Y	-	2	0	PLAA	26910328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.818000	0.69236	2.251000	0.74343	0.482000	0.46254	TAT		0.383	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		14	23	0	0	0	0.001855	0	14	23				
TAF1L	138474	broad.mit.edu	37	9	32633952	32633952	+	Missense_Mutation	SNP	G	G	T	rs368386577		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:32633952G>T	ENST00000242310.4	-	1	1715	c.1626C>A	c.(1624-1626)aaC>aaA	p.N542K	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	542					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)			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)		TGGAGGGGGAGTTAGAGGTGG	0.488																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1624-1626)AAC>AAA		TBP-associated factor RNA polymerase 1-like							155.0	156.0	155.0					9																	32633952		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.chr9:32633952G>T	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.1626C>A	9.37:g.32633952G>T	ENSP00000418379:p.Asn542Lys					uc003zrh.1_RNA	p.N542K	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1716	-			542					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1626C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905004	0.52333	.	.	ENSG00000122728	ENST00000242310	T	0.07567	3.18	1.16	-0.628	0.11537	.	0.052535	0.85682	D	0.000000	T	0.04003	0.0112	L	0.38175	1.15	0.37740	D	0.925577	B	0.29378	0.243	B	0.25987	0.065	T	0.36768	-0.9734	10	0.07482	T	0.82	.	2.2946	0.04147	0.2751:0.3361:0.3888:0.0	.	542	Q8IZX4	TAF1L_HUMAN	K	542	ENSP00000418379:N542K	ENSP00000418379:N542K	N	-	3	2	TAF1L	32623952	0.988000	0.35896	0.995000	0.50966	0.763000	0.43281	0.052000	0.14163	0.507000	0.28148	0.195000	0.17529	AAC		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			62	120	1	0	8.72158e-25	0.00361	1.38032e-24	62	120				
SMU1	55234	broad.mit.edu	37	9	33057642	33057642	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:33057642C>A	ENST00000397149.3	-	7	871	c.821G>T	c.(820-822)aGa>aTa	p.R274I	SMU1_ENST00000536631.1_Missense_Mutation_p.R113I	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	274						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TTCTGTATCTCTGCTGAAACA	0.398																																							uc003zsf.1		NA																	0				ovary(1)	1						c.(820-822)AGA>ATA		smu-1 suppressor of mec-8 and unc-52 homolog							160.0	147.0	152.0					9																	33057642		2203	4297	6500	SO:0001583	missense	55234					cytoplasm|nucleus		g.chr9:33057642C>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.821G>T	9.37:g.33057642C>A	ENSP00000380336:p.Arg274Ile					SMU1_uc010mjo.1_Missense_Mutation_p.R274I|SMU1_uc010mjp.1_Missense_Mutation_p.R274I|SMU1_uc011lnu.1_Missense_Mutation_p.R113I	p.R274I	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	7	929	-			274			WD 2.		B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	c.821G>T	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685375	0.88639	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	T;T	0.60299	0.2;0.2	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	L	0.58354	1.805	0.80722	D	1	P;D;P	0.61697	0.858;0.99;0.858	P;D;P	0.65773	0.762;0.938;0.762	T	0.73222	-0.4051	10	0.62326	D	0.03	-26.9177	17.0943	0.86630	0.0:1.0:0.0:0.0	.	274;113;274	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	I	274;113	ENSP00000380336:R274I;ENSP00000443639:R113I	ENSP00000380336:R274I	R	-	2	0	SMU1	33047642	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.164000	0.50770	2.698000	0.92095	0.591000	0.81541	AGA		0.398	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		71	50	1	0	7.07328e-35	0.00361	1.22032e-34	71	50				
NFX1	4799	broad.mit.edu	37	9	33318727	33318727	+	Splice_Site	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:33318727A>G	ENST00000379540.3	+	8	1650		c.e8-1		NFX1_ENST00000379521.4_Splice_Site|NFX1_ENST00000318524.6_Splice_Site	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1						inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTTCTCTTCAAGTATGCTATT	0.388																																							uc003zsq.2		NA																	0				ovary(1)	1						c.e8-2		nuclear transcription factor, X-box binding 1							172.0	162.0	166.0					9																	33318727		2203	4300	6503	SO:0001630	splice_region_variant	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33318727A>G	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1589-1A>G	9.37:g.33318727A>G						SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Splice_Site_p.V530_splice|NFX1_uc003zso.2_Splice_Site_p.V530_splice|NFX1_uc003zsp.1_Splice_Site_p.V530_splice|NFX1_uc010mjr.1_Splice_Site_p.V530_splice|NFX1_uc003zsr.2_Splice_Site_p.V530_splice	p.V530_splice	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	8	1650	+								A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Splice_Site	SNP	ENST00000379540.3	37	c.1589_splice	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852026	0.71719	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3004	0.66346	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFX1	33308727	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	8.809000	0.91944	2.254000	0.74563	0.533000	0.62120	.		0.388	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		Intron	55	60	0	0	0	0.00361	0	55	60				
ALDH1B1	219	broad.mit.edu	37	9	38396171	38396171	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:38396171C>T	ENST00000377698.3	+	2	579	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	142					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TGGATGAGGTCATCAAGGTGT	0.557																																							uc004aay.2		NA																	0				skin(1)	1						c.(424-426)GTC>GTT		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)						122.0	124.0	123.0					9																	38396171		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396171C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.426C>T	9.37:g.38396171C>T							p.V142V	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	538	+			142					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.426C>T	CCDS6615.1																																																																																				0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			48	105	0	0	0	0.00361	0	48	105				
SPATA31A6	389730	broad.mit.edu	37	9	43625384	43625384	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:43625384G>T	ENST00000332857.6	-	4	3331	c.3303C>A	c.(3301-3303)ccC>ccA	p.P1101P	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1101					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTGAATAGGGGGAAACATTG	0.478																																							uc011lrb.1		NA																	0					0						c.(3301-3303)CCC>CCA		hypothetical protein LOC389730							1.0	2.0	2.0					9																	43625384		362	1026	1388	SO:0001819	synonymous_variant	389730					integral to membrane		g.chr9:43625384G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3303C>A	9.37:g.43625384G>T							p.P1101P	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3332	-			1101						Silent	SNP	ENST00000332857.6	37	c.3303C>A	CCDS47973.1																																																																																				0.478	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		47	365	1	0	1.58458e-29	0.00361	2.62828e-29	47	365				
SPATA31A6	389730	broad.mit.edu	37	9	43627789	43627789	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:43627789C>T	ENST00000332857.6	-	4	926	c.898G>A	c.(898-900)Gat>Aat	p.D300N	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	300					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAAGAGGATCTTGCTGGACT	0.552																																							uc011lrb.1		NA																	0					0						c.(898-900)GAT>AAT		hypothetical protein LOC389730							3.0	3.0	3.0					9																	43627789		551	1411	1962	SO:0001583	missense	389730					integral to membrane		g.chr9:43627789C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.898G>A	9.37:g.43627789C>T	ENSP00000329825:p.Asp300Asn						p.D300N	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	927	-			300						Missense_Mutation	SNP	ENST00000332857.6	37	c.898G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197378	0.38806	.	.	ENSG00000185775	ENST00000332857	T	0.03717	3.83	1.85	-0.105	0.13601	.	1.076350	0.07242	N	0.864381	T	0.05914	0.0154	L	0.50333	1.59	0.09310	N	1	P	0.45672	0.864	P	0.46362	0.514	T	0.36187	-0.9758	10	0.66056	D	0.02	0.0091	4.0346	0.09724	0.0:0.59:0.0:0.41	.	300	Q5VVP1	F75A6_HUMAN	N	300	ENSP00000329825:D300N	ENSP00000329825:D300N	D	-	1	0	FAM75A6	43567785	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.071000	0.14594	-0.033000	0.13736	0.393000	0.25936	GAT		0.552	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		151	647	0	0	0	0.00361	0	151	647				
SPATA31A6	389730	broad.mit.edu	37	9	43627791	43627791	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:43627791T>G	ENST00000332857.6	-	4	924	c.896A>C	c.(895-897)cAa>cCa	p.Q299P	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	299					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGAGGATCTTGCTGGACTGA	0.557																																							uc011lrb.1		NA																	0					0						c.(895-897)CAA>CCA		hypothetical protein LOC389730							3.0	3.0	3.0					9																	43627791		547	1405	1952	SO:0001583	missense	389730					integral to membrane		g.chr9:43627791T>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.896A>C	9.37:g.43627791T>G	ENSP00000329825:p.Gln299Pro						p.Q299P	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	925	-			299						Missense_Mutation	SNP	ENST00000332857.6	37	c.896A>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826686	0.32329	.	.	ENSG00000185775	ENST00000332857	T	0.04234	3.67	1.85	1.85	0.25348	.	1.394390	0.04587	N	0.395975	T	0.07369	0.0186	L	0.53249	1.67	0.09310	N	1	B	0.22346	0.068	B	0.29440	0.102	T	0.42666	-0.9438	10	0.30078	T	0.28	-0.1722	5.7792	0.18297	0.0:0.0:0.0:1.0	.	299	Q5VVP1	F75A6_HUMAN	P	299	ENSP00000329825:Q299P	ENSP00000329825:Q299P	Q	-	2	0	FAM75A6	43567787	0.001000	0.12720	0.007000	0.13788	0.014000	0.08584	0.086000	0.14935	1.107000	0.41642	0.324000	0.21423	CAA		0.557	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		146	635	0	0	0	0.00361	0	146	635				
ANKRD20A1	84210	broad.mit.edu	37	9	67968449	67968449	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:67968449A>T	ENST00000377477.2	+	15	2120	c.2008A>T	c.(2008-2010)Aaa>Taa	p.K670*	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	670						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AACACAAATTAAATTCAATGC	0.338																																							uc004aeu.2		NA																	0					0						c.(2008-2010)AAA>TAA		ankyrin repeat domain 20 family, member A3							20.0	20.0	20.0					9																	67968449		2176	4236	6412	SO:0001587	stop_gained	441425							g.chr9:67968449A>T	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.2008A>T	9.37:g.67968449A>T	ENSP00000366697:p.Lys670*					ANKRD20A3_uc010mnn.2_Nonsense_Mutation_p.K669*	p.K670*	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN			15	2120	+			670			Potential.		Q9H0H6	Nonsense_Mutation	SNP	ENST00000377477.2	37	c.2008A>T	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	19.42	3.824164	0.71143	.	.	ENSG00000196774	ENST00000377477	.	.	.	1.88	0.639	0.17747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9653	0.14087	0.8207:0.0:0.1793:0.0	.	.	.	.	X	670	.	ENSP00000366697:K670X	K	+	1	0	ANKRD20A1	67558269	0.975000	0.34042	0.002000	0.10522	0.002000	0.02628	3.410000	0.52664	0.037000	0.15575	0.092000	0.15492	AAA		0.338	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			52	45	0	0	0	0.00361	0	52	45				
PGM5	5239	broad.mit.edu	37	9	71114172	71114172	+	Silent	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:71114172A>T	ENST00000396396.1	+	10	1738	c.1509A>T	c.(1507-1509)tcA>tcT	p.S503S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	503					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGGATGCATCACGGCTCATCT	0.527																																							uc004agr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1507-1509)TCA>TCT		phosphoglucomutase 5							175.0	152.0	160.0					9																	71114172		2203	4300	6503	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71114172A>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1509A>T	9.37:g.71114172A>T							p.S503S	NM_021965	NP_068800	Q15124	PGM5_HUMAN			10	1738	+			503					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.1509A>T	CCDS6622.2																																																																																				0.527	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		80	23	0	0	0	0.00361	0	80	23				
TMEM2	23670	broad.mit.edu	37	9	74337423	74337423	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:74337423T>A	ENST00000377044.4	-	12	2726	c.2187A>T	c.(2185-2187)ttA>ttT	p.L729F	TMEM2_ENST00000377066.5_Missense_Mutation_p.L666F	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	729					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTCAATAAATAAGCCAGCCT	0.353																																							uc011lsa.1		NA																	0				ovary(2)	2						c.(2185-2187)TTA>TTT		transmembrane protein 2 isoform a							103.0	94.0	97.0					9																	74337423		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74337423T>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2187A>T	9.37:g.74337423T>A	ENSP00000366243:p.Leu729Phe					TMEM2_uc010mos.2_Missense_Mutation_p.L666F|TMEM2_uc011lsb.1_RNA	p.L729F	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	12	2727	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	729			PbH1 2.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2187A>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597285	0.66332	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.80566	-1.39;-1.39	5.38	-1.15	0.09709	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	M	0.76002	2.32	0.80722	D	1	D;D	0.56035	0.974;0.959	P;P	0.61003	0.78;0.882	T	0.82516	-0.0418	10	0.36615	T	0.2	.	12.1144	0.53858	0.0:0.3842:0.0:0.6158	.	729;666	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	F	729;666	ENSP00000366243:L729F;ENSP00000366266:L666F	ENSP00000366243:L729F	L	-	3	2	TMEM2	73527243	0.046000	0.20272	0.997000	0.53966	0.984000	0.73092	-0.817000	0.04472	-0.118000	0.11851	0.455000	0.32223	TTA		0.353	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		23	8	0	0	0	0.004656	0	23	8				
VPS13A	23230	broad.mit.edu	37	9	79955112	79955112	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:79955112G>T	ENST00000360280.3	+	49	7053	c.6793G>T	c.(6793-6795)Gat>Tat	p.D2265Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.D2226Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2265Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2265Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2265					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATGGTAACTGATAGTGAGTT	0.318																																							uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(6793-6795)GAT>TAT		vacuolar protein sorting 13A isoform A							123.0	128.0	126.0					9																	79955112		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79955112G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6793G>T	9.37:g.79955112G>T	ENSP00000353422:p.Asp2265Tyr					VPS13A_uc004akp.3_Missense_Mutation_p.D2265Y|VPS13A_uc004akq.3_Missense_Mutation_p.D2265Y|VPS13A_uc004aks.2_Missense_Mutation_p.D2226Y	p.D2265Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			49	7053	+			2265					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6793G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161281	0.78226	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.21	5.21	0.72293	Vacuolar protein sorting-associated protein (1);	0.055909	0.64402	D	0.000001	T	0.63640	0.2528	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;1.0;1.0	D;D;D;D	0.80764	0.935;0.994;0.991;0.983	T	0.67692	-0.5605	10	0.87932	D	0	.	19.181	0.93623	0.0:0.0:1.0:0.0	.	2226;2265;2265;2265	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	2265;2226;2265;2265	ENSP00000365821:D2265Y;ENSP00000365823:D2226Y;ENSP00000353422:D2265Y;ENSP00000349985:D2265Y	ENSP00000349985:D2265Y	D	+	1	0	VPS13A	79144932	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.269000	0.95684	2.622000	0.88805	0.644000	0.83932	GAT		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		40	4	1	0	1.62957e-23	0.00874	2.5314e-23	40	4				
SLC28A3	64078	broad.mit.edu	37	9	86903039	86903039	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:86903039C>A	ENST00000376238.4	-	12	1253	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	SLC28A3_ENST00000537648.1_Missense_Mutation_p.A333S|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	402					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TTAGCAGCAGCCAATGACGCA	0.428																																					Ovarian(106;425 1539 34835 42413 43572)	Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1204-1206)GCT>TCT		concentrative Na+-nucleoside cotransporter							147.0	151.0	150.0					9																	86903039		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86903039C>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1204G>T	9.37:g.86903039C>A	ENSP00000365413:p.Ala402Ser					SLC28A3_uc011lsy.1_Missense_Mutation_p.A333S|SLC28A3_uc004anu.1_Missense_Mutation_p.A402S	p.A402S	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			12	1329	-			402			Helical; (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1204G>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742388	0.89573	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.07114	3.22;3.22	5.74	5.74	0.90152	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.88704	2.975	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	T	0.28138	-1.0053	10	0.87932	D	0	-21.6167	20.2825	0.98528	0.0:1.0:0.0:0.0	.	402	Q9HAS3	S28A3_HUMAN	S	402;333	ENSP00000365413:A402S;ENSP00000446438:A333S	ENSP00000365413:A402S	A	-	1	0	SLC28A3	86092859	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	7.693000	0.84214	2.873000	0.98535	0.561000	0.74099	GCT		0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		96	21	1	0	7.34945e-47	0.00361	1.32716e-46	96	21				
NTRK2	4915	broad.mit.edu	37	9	87636305	87636305	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:87636305C>A	ENST00000323115.4	+	17	2775	c.2422C>A	c.(2422-2424)Cag>Aag	p.Q808K	NTRK2_ENST00000376213.1_Missense_Mutation_p.Q808K|NTRK2_ENST00000277120.3_Missense_Mutation_p.Q824K|NTRK2_ENST00000376214.1_Missense_Mutation_p.Q824K			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	808					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TACCCTCCTTCAGAACTTGGC	0.592										TSP Lung(25;0.17)																													uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(2422-2424)CAG>AAG		neurotrophic tyrosine kinase, receptor, type 2							131.0	120.0	124.0					9																	87636305		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87636305C>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2422C>A	9.37:g.87636305C>A	ENSP00000314586:p.Gln808Lys	TSP Lung(25;0.17)				NTRK2_uc004anz.1_Missense_Mutation_p.Q824K	p.Q808K	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			20	3360	+			808			Cytoplasmic (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.2422C>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701203	0.48307	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.99	5.99	0.97316	.	0.119371	0.64402	D	0.000014	T	0.70806	0.3266	N	0.25031	0.7	0.80722	D	1	P;P	0.48230	0.761;0.907	B;P	0.47705	0.352;0.555	T	0.68202	-0.5471	10	0.32370	T	0.25	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	808;824	Q16620;Q16620-4	NTRK2_HUMAN;.	K	824;808;824;808	ENSP00000365387:Q824K;ENSP00000365386:Q808K;ENSP00000277120:Q824K;ENSP00000314586:Q808K	ENSP00000277120:Q824K	Q	+	1	0	NTRK2	86826125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.840000	0.97914	0.655000	0.94253	CAG		0.592	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			63	3	1	0	2.37532e-16	0.00361	3.27199e-16	63	3				
DAPK1	1612	broad.mit.edu	37	9	90322028	90322028	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:90322028G>T	ENST00000408954.3	+	26	4377	c.4042G>T	c.(4042-4044)Ggg>Tgg	p.G1348W	DAPK1_ENST00000358077.5_Missense_Mutation_p.G1348W|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1282W|DAPK1_ENST00000472284.1_Missense_Mutation_p.G1348W|DAPK1_ENST00000469640.2_Missense_Mutation_p.G1373W	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1348	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CACCAGTAACGGGGCTCCCAA	0.632									Chronic Lymphocytic Leukemia, Familial Clustering of																														uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(4042-4044)GGG>TGG		death-associated protein kinase 1							60.0	66.0	64.0					9																	90322028		1983	4145	6128	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90322028G>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4042G>T	9.37:g.90322028G>T	ENSP00000386135:p.Gly1348Trp					DAPK1_uc004apd.2_Missense_Mutation_p.G1348W|DAPK1_uc011ltg.1_Missense_Mutation_p.G1282W|DAPK1_uc011lth.1_Missense_Mutation_p.G1085W|DAPK1_uc004apg.2_Missense_Mutation_p.G325W	p.G1348W	NM_004938	NP_004929	P53355	DAPK1_HUMAN			26	4180	+			1348			Death.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.4042G>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876083	0.33162	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68903	-0.32;-0.32;-0.33;-0.32;-0.36	6.17	5.27	0.74061	Death (3);DEATH-like (2);	0.431882	0.19535	N	0.111944	T	0.72203	0.3431	L	0.36672	1.1	0.52099	D	0.999947	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.72625	0.978;0.966;0.978	T	0.73269	-0.4036	10	0.66056	D	0.02	.	9.5903	0.39541	0.0712:0.0:0.7873:0.1415	.	1282;1348;1348	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	W	1348;1348;1373;1348;1282	ENSP00000350785:G1348W;ENSP00000417076:G1348W;ENSP00000418885:G1373W;ENSP00000386135:G1348W;ENSP00000419026:G1282W	ENSP00000350785:G1348W	G	+	1	0	DAPK1	89511848	0.999000	0.42202	0.229000	0.23960	0.039000	0.13416	4.575000	0.60908	1.598000	0.50083	0.655000	0.94253	GGG		0.632	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		56	18	1	0	9.04393e-38	0.00361	1.57434e-37	56	18				
PTCH1	5727	broad.mit.edu	37	9	98220396	98220396	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:98220396C>A	ENST00000331920.6	-	18	3366	c.3067G>T	c.(3067-3069)Ggc>Tgc	p.G1023C	PTCH1_ENST00000430669.2_Missense_Mutation_p.G957C|PTCH1_ENST00000418258.1_Missense_Mutation_p.G872C|PTCH1_ENST00000437951.1_Missense_Mutation_p.G957C|PTCH1_ENST00000429896.2_Missense_Mutation_p.G872C|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1022C|PTCH1_ENST00000421141.1_Missense_Mutation_p.G872C	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1023					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGCGGAGGCCGATGTACTGC	0.577																																							uc004avk.3		NA																	1	Deletion - Frameshift(1)	p.I963fs*2(1)	central_nervous_system(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3067-3069)GGC>TGC		patched isoform L							67.0	62.0	64.0					9																	98220396		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98220396C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3067G>T	9.37:g.98220396C>A	ENSP00000332353:p.Gly1023Cys					PTCH1_uc010mro.2_Missense_Mutation_p.G872C|PTCH1_uc010mrp.2_Missense_Mutation_p.G872C|PTCH1_uc010mrq.2_Missense_Mutation_p.G872C|PTCH1_uc004avl.3_Missense_Mutation_p.G872C|PTCH1_uc010mrr.2_Missense_Mutation_p.G957C|PTCH1_uc004avm.3_Missense_Mutation_p.G1022C	p.G1023C	NM_000264	NP_000255	Q13635	PTC1_HUMAN			18	3255	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1023			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3067G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856736	0.71834	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.87	4.94	0.65067	.	0.089417	0.85682	D	0.000000	D	0.89361	0.6693	M	0.61703	1.905	0.53005	D	0.999966	D;D;D	0.76494	0.993;0.999;0.997	P;D;D	0.65874	0.902;0.939;0.935	D	0.88278	0.2934	10	0.38643	T	0.18	-26.0845	11.5118	0.50498	0.0:0.907:0.0:0.093	.	957;1022;1023	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	C	1023;957;872;872;459;957;872;1022	ENSP00000332353:G1023C;ENSP00000389744:G957C;ENSP00000399981:G872C;ENSP00000396135:G872C;ENSP00000410287:G957C;ENSP00000414823:G872C;ENSP00000364423:G1022C	ENSP00000332353:G1023C	G	-	1	0	PTCH1	97260217	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.844000	0.48246	1.495000	0.48549	0.655000	0.94253	GGC		0.577	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		46	12	1	0	5.48756e-27	0.002852	8.88113e-27	46	12				
ERCC6L2	375748	broad.mit.edu	37	9	98643552	98643552	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:98643552A>T	ENST00000288985.7	+	2	786	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GGGTGATGACATGGGACTTGG	0.363																																							uc004avt.3		NA																	0					0						c.(481-483)ATG>TTG		RAD26L hypothetical protein							73.0	74.0	74.0					9																	98643552		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98643552A>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.481A>T	9.37:g.98643552A>T	ENSP00000288985:p.Met161Leu					C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	p.M161L	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			2	869	+		Acute lymphoblastic leukemia(62;0.0559)	161			ATP (By similarity).|Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.481A>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651731	0.88056	.	.	ENSG00000182150	ENST00000288985	D	0.94457	-3.43	5.32	5.32	0.75619	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000002	D	0.98372	0.9459	H	0.98178	4.165	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99755	1.1019	10	0.87932	D	0	-23.0362	15.4398	0.75173	1.0:0.0:0.0:0.0	.	161	Q5T890	RAD26_HUMAN	L	161	ENSP00000288985:M161L	ENSP00000288985:M161L	M	+	1	0	C9orf102	97683373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.477000	0.90424	2.229000	0.72834	0.482000	0.46254	ATG		0.363	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		27	6	0	0	0	0.002096	0	27	6				
GABBR2	9568	broad.mit.edu	37	9	101147957	101147957	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:101147957A>T	ENST00000259455.2	-	11	2086	c.1627T>A	c.(1627-1629)Ttt>Att	p.F543I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	543					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCAGAGACAAAGGATCCATCA	0.428																																							uc004ays.2		NA																	0				ovary(2)|skin(2)	4						c.(1627-1629)TTT>ATT		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						153.0	138.0	143.0					9																	101147957		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101147957A>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1627T>A	9.37:g.101147957A>T	ENSP00000259455:p.Phe543Ile						p.F543I	NM_005458	NP_005449	O75899	GABR2_HUMAN			11	1783	-		Acute lymphoblastic leukemia(62;0.0527)	543			Helical; Name=2; (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1627T>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695933	0.88830	.	.	ENSG00000136928	ENST00000259455	T	0.77750	-1.12	5.83	5.83	0.93111	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	N	0.20986	0.625	0.80722	D	1	P	0.40144	0.704	B	0.42462	0.388	T	0.67518	-0.5650	10	0.26408	T	0.33	-13.4681	14.1668	0.65483	1.0:0.0:0.0:0.0	.	543	O75899	GABR2_HUMAN	I	543	ENSP00000259455:F543I	ENSP00000259455:F543I	F	-	1	0	GABBR2	100187778	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	TTT		0.428	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			30	7	0	0	0	0.002836	0	30	7				
CYLC2	1539	broad.mit.edu	37	9	105767812	105767812	+	Missense_Mutation	SNP	C	C	G	rs568757462	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:105767812C>G	ENST00000374798.3	+	5	969	c.899C>G	c.(898-900)gCc>gGc	p.A300G	CYLC2_ENST00000487798.1_Missense_Mutation_p.A300G	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	300	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				acgaaagatgccaagaaagtt	0.383																																							uc004bbs.2		NA																	0				skin(1)	1						c.(898-900)GCC>GGC		cylicin 2							68.0	66.0	67.0					9																	105767812		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767812C>G	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.899C>G	9.37:g.105767812C>G	ENSP00000420256:p.Ala300Gly						p.A300G	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	969	+		all_hematologic(171;0.125)	300			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.899C>G	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	C	1.890	-0.455591	0.04540	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14640	2.49;2.49	3.86	1.99	0.26369	.	1.803770	0.03341	N	0.194819	T	0.08670	0.0215	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30446	-0.9978	10	0.30078	T	0.28	-0.0289	5.3606	0.16085	0.0:0.6774:0.2076:0.1149	.	300	Q14093	CYLC2_HUMAN	G	300	ENSP00000420256:A300G;ENSP00000417674:A300G	ENSP00000420256:A300G	A	+	2	0	CYLC2	104807633	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.747000	0.01827	0.404000	0.25506	-0.234000	0.12200	GCC		0.383	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		12	3	0	0	0	0.000978	0	12	3				
SMC2	10592	broad.mit.edu	37	9	106889718	106889718	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:106889718A>T	ENST00000286398.7	+	20	3035	c.2747A>T	c.(2746-2748)aAc>aTc	p.N916I	SMC2_ENST00000303219.8_Missense_Mutation_p.N916I|SMC2_ENST00000374793.3_Missense_Mutation_p.N916I|SMC2_ENST00000374787.3_Missense_Mutation_p.N916I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	916				N -> H (in Ref. 1; AAC72360). {ECO:0000305}.	kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTAGACCACAACATCAGCAAA	0.363																																							uc004bbv.2		NA																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(2746-2748)AAC>ATC		structural maintenance of chromosomes 2							142.0	135.0	137.0					9																	106889718		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889718A>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2747A>T	9.37:g.106889718A>T	ENSP00000286398:p.Asn916Ile					SMC2_uc004bbw.2_Missense_Mutation_p.N916I|SMC2_uc011lvl.1_Missense_Mutation_p.N916I|SMC2_uc004bbx.2_Missense_Mutation_p.N916I|SMC2_uc004bby.2_RNA	p.N916I	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			20	3035	+			916	N -> H (in Ref. 1; AAC72360).		Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2747A>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.448937	0.43531	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.84	4.71	0.59529	RecF/RecN/SMC (1);	0.042343	0.85682	D	0.000000	T	0.70859	0.3272	L	0.50333	1.59	0.36304	D	0.857198	B	0.27013	0.166	B	0.28784	0.094	T	0.72491	-0.4277	10	0.59425	D	0.04	-6.0084	8.2417	0.31665	0.8355:0.0:0.1645:0.0	.	916	O95347	SMC2_HUMAN	I	916	ENSP00000286398:N916I;ENSP00000363925:N916I;ENSP00000306152:N916I;ENSP00000363919:N916I	ENSP00000286398:N916I	N	+	2	0	SMC2	105929539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.659000	0.46741	1.056000	0.40484	0.528000	0.53228	AAC		0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			28	5	0	0	0	0.009535	0	28	5				
OR13C2	392376	broad.mit.edu	37	9	107367234	107367234	+	Silent	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:107367234G>A	ENST00000542196.1	-	1	717	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TAATTTTGAAGATGCTCACAA	0.408																																							uc011lvq.1		NA																	0				skin(1)	1						c.(673-675)ATC>ATT		olfactory receptor, family 13, subfamily C,							104.0	100.0	101.0					9																	107367234		2201	4300	6501	SO:0001819	synonymous_variant	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367234G>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.675C>T	9.37:g.107367234G>A							p.I225I	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	675	-			225			Cytoplasmic (Potential).		B9EGV8|Q6IF54	Silent	SNP	ENST00000542196.1	37	c.675C>T	CCDS35092.1																																																																																				0.408	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		59	7	0	0	0	0.00361	0	59	7				
OR13C9	286362	broad.mit.edu	37	9	107380040	107380040	+	Missense_Mutation	SNP	C	C	A	rs368008299		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:107380040C>A	ENST00000259362.1	-	1	445	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCCTGCAAACCAGGACCCAAC	0.443																																							uc011lvr.1		NA																	0					0						c.(445-447)TGG>TTG		olfactory receptor, family 13, subfamily C,							123.0	110.0	114.0					9																	107380040		2203	4300	6503	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107380040C>A		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.446G>T	9.37:g.107380040C>A	ENSP00000259362:p.Trp149Leu						p.W149L	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	446	-			149			Helical; Name=4; (Potential).		Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.446G>T	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029597	0.54790	.	.	ENSG00000136839	ENST00000259362	T	0.58210	0.35	4.51	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.73938	0.3651	M	0.88704	2.975	0.35193	D	0.773548	D	0.64830	0.994	P	0.61940	0.896	D	0.85062	0.0935	10	0.87932	D	0	.	14.7497	0.69516	0.0:1.0:0.0:0.0	.	149	Q8NGT0	O13C9_HUMAN	L	149	ENSP00000259362:W149L	ENSP00000259362:W149L	W	-	2	0	OR13C9	106419861	0.859000	0.29813	0.824000	0.32777	0.319000	0.28217	1.193000	0.32162	2.305000	0.77605	0.643000	0.83706	TGG		0.443	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			56	14	1	0	4.78724e-31	0.00361	8.05089e-31	56	14				
OR13D1	286365	broad.mit.edu	37	9	107457184	107457184	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:107457184C>G	ENST00000318763.5	+	1	525	c.482C>G	c.(481-483)cCa>cGa	p.P161R		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATCTGCAACCCACTGAGGTAC	0.537																																							uc011lvs.1		NA																	0				ovary(1)|skin(1)	2						c.(481-483)CCA>CGA		olfactory receptor, family 13, subfamily D,							139.0	125.0	130.0					9																	107457184		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457184C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.482C>G	9.37:g.107457184C>G	ENSP00000317357:p.Pro161Arg						p.P161R	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	482	+			161			Cytoplasmic (Potential).		B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.482C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835646	0.71373	.	.	ENSG00000179055	ENST00000318763	T	0.01902	4.57	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000104	T	0.25306	0.0615	H	0.99368	4.535	0.50467	D	0.999871	D	0.89917	1.0	D	0.91635	0.999	T	0.52697	-0.8541	10	0.87932	D	0	.	13.0659	0.59032	0.0:1.0:0.0:0.0	.	161	Q8NGV5	O13D1_HUMAN	R	161	ENSP00000317357:P161R	ENSP00000317357:P161R	P	+	2	0	OR13D1	106497005	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.449000	0.80643	1.917000	0.55516	0.609000	0.83330	CCA		0.537	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			73	23	0	0	0	0.00361	0	73	23				
ASTN2	23245	broad.mit.edu	37	9	119625893	119625893	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:119625893G>T	ENST00000313400.4	-	11	2109	c.2009C>A	c.(2008-2010)tCt>tAt	p.S670Y	ASTN2_ENST00000373996.3_Missense_Mutation_p.S666Y|ASTN2_ENST00000361209.2_Missense_Mutation_p.S619Y|ASTN2_ENST00000361477.3_De_novo_Start_OutOfFrame			O75129	ASTN2_HUMAN	astrotactin 2	670	EGF-like 2.				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						CTGCCGGTCAGACACACACTT	0.577																																							uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(2008-2010)TCT>TAT		astrotactin 2 isoform c							116.0	99.0	105.0					9																	119625893		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119625893G>T	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.2009C>A	9.37:g.119625893G>T	ENSP00000314038:p.Ser670Tyr					ASTN2_uc004bjr.1_Missense_Mutation_p.S666Y|ASTN2_uc004bjt.1_Missense_Mutation_p.S619Y	p.S670Y	NM_198187	NP_937830	O75129	ASTN2_HUMAN			11	2110	-			670			Extracellular (Potential).|EGF-like 2.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.2009C>A		.	.	.	.	.	.	.	.	.	.	G	17.73	3.461927	0.63513	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15487	2.59;2.59;2.42;2.62	5.71	5.71	0.89125	.	0.162599	0.43260	D	0.000581	T	0.32882	0.0844	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.998;0.963;0.999	D;P;D	0.74348	0.93;0.642;0.983	T	0.00939	-1.1507	9	.	.	.	-12.9066	19.8381	0.96666	0.0:0.0:1.0:0.0	.	619;670;666	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	670;666;393;619	ENSP00000314038:S670Y;ENSP00000363108:S666Y;ENSP00000363098:S393Y;ENSP00000354504:S619Y	.	S	-	2	0	ASTN2	118665714	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	9.429000	0.97481	2.690000	0.91761	0.655000	0.94253	TCT		0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		20	9	1	0	6.44725e-10	0.002299	7.81755e-10	20	9				
TLR4	7099	broad.mit.edu	37	9	120475273	120475273	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:120475273A>G	ENST00000355622.6	+	3	968	c.867A>G	c.(865-867)cgA>cgG	p.R289R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.R249R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	289					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AAGAATTCCGATTAGCATACT	0.363																																							uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(865-867)CGA>CGG		toll-like receptor 4 precursor							95.0	100.0	98.0					9																	120475273		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475273A>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.867A>G	9.37:g.120475273A>G						TLR4_uc004bka.2_Silent_p.R249R|TLR4_uc004bkb.2_Silent_p.R89R	p.R289R	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1158	+			289			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.867A>G	CCDS6818.1																																																																																				0.363	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		26	9	0	0	0	0.005443	0	26	9				
BRINP1	1620	broad.mit.edu	37	9	121930490	121930490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:121930490C>A	ENST00000265922.3	-	8	1619	c.1158G>T	c.(1156-1158)caG>caT	p.Q386H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	386					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TTGCAAGCCACTGCTGAATTG	0.512																																							uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1156-1158)CAG>CAT		deleted in bladder cancer 1 precursor							15.0	13.0	14.0					9																	121930490		2047	4069	6116	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930490C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1158G>T	9.37:g.121930490C>A	ENSP00000265922:p.Gln386His						p.Q386H	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	1614	-			386					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1158G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373000	0.42105	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.14766	2.48	5.69	4.8	0.61643	.	0.054038	0.85682	D	0.000000	T	0.13970	0.0338	L	0.47716	1.5	0.58432	D	0.999995	B	0.22080	0.064	B	0.17433	0.018	T	0.02632	-1.1131	10	0.56958	D	0.05	-17.6017	11.5434	0.50679	0.0:0.845:0.0:0.155	.	386	O60477	DBC1_HUMAN	H	386	ENSP00000265922:Q386H	ENSP00000265922:Q386H	Q	-	3	2	DBC1	120970311	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.682000	0.25335	1.409000	0.46915	0.655000	0.94253	CAG		0.512	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		11	2	1	0	0.00185496	0.001855	0.00192979	11	2				
OR1L8	138881	broad.mit.edu	37	9	125330211	125330211	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:125330211G>T	ENST00000304865.2	-	1	627	c.546C>A	c.(544-546)ctC>ctA	p.L182L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCACAGGGCTGAGGTCACAGA	0.463																																							uc004bmp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(544-546)CTC>CTA		olfactory receptor, family 1, subfamily L,							122.0	101.0	108.0					9																	125330211		2203	4300	6503	SO:0001819	synonymous_variant	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330211G>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.546C>A	9.37:g.125330211G>T							p.L182L	NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN			1	546	-			182			Extracellular (Potential).		A3KFM3|B9EIR6|Q6IF15|Q96R79	Silent	SNP	ENST00000304865.2	37	c.546C>A	CCDS35124.1																																																																																				0.463	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			34	8	1	0	1.04594e-18	0.00623	1.50621e-18	34	8				
CRB2	286204	broad.mit.edu	37	9	126129486	126129486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:126129486G>T	ENST00000373631.3	+	5	791	c.790G>T	c.(790-792)Gag>Tag	p.E264*	CRB2_ENST00000373629.2_5'Flank|CRB2_ENST00000359999.3_Nonsense_Mutation_p.E264*	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	264	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACGAGGACGAGTGTGCATC	0.682																																							uc004bnx.1		NA																	0				ovary(1)	1						c.(790-792)GAG>TAG		crumbs homolog 2 precursor							45.0	55.0	51.0					9																	126129486		2203	4300	6503	SO:0001587	stop_gained	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126129486G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.790G>T	9.37:g.126129486G>T	ENSP00000362734:p.Glu264*					CRB2_uc004bnw.1_Nonsense_Mutation_p.E264*	p.E264*	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			5	882	+			264			Extracellular (Potential).|EGF-like 6.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Nonsense_Mutation	SNP	ENST00000373631.3	37	c.790G>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	31	5.091101	0.94149	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	.	.	.	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000307	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.0053	0.80359	0.0:0.0:1.0:0.0	.	.	.	.	X	264	.	ENSP00000353092:E264X	E	+	1	0	CRB2	125169307	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	9.200000	0.95010	2.373000	0.80994	0.643000	0.83706	GAG		0.682	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		66	11	1	0	3.13743e-37	0.00361	5.44196e-37	66	11				
NUP214	8021	broad.mit.edu	37	9	134103702	134103702	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:134103702A>T	ENST00000359428.5	+	33	6202	c.6058A>T	c.(6058-6060)Agc>Tgc	p.S2020C	NUP214_ENST00000451030.1_Missense_Mutation_p.S2021C|NUP214_ENST00000411637.2_Missense_Mutation_p.S2010C|NUP214_ENST00000483497.2_Missense_Mutation_p.S846C			P35658	NU214_HUMAN	nucleoporin 214kDa	2020	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGCAGCTGCCAGCGCAGGAGG	0.607			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(6058-6060)AGC>TGC		nucleoporin 214kDa							36.0	41.0	39.0					9																	134103702		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134103702A>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6058A>T	9.37:g.134103702A>T	ENSP00000352400:p.Ser2020Cys					NUP214_uc004cah.2_Missense_Mutation_p.S2010C|NUP214_uc004cai.2_Missense_Mutation_p.S1450C|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S846C	p.S2020C	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	33	6169	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	2020			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.6058A>T	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.663474|4.663474	0.88251|0.88251	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000476004|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000528406	.|T;T;T;T	.|0.54071	.|1.19;1.19;1.19;0.59	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.51477	.|D	.|0.000089	T|T	0.53769|0.53769	0.1817|0.1817	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.996;0.991;0.991;0.991	T|T	0.64757|0.64757	-0.6332|-0.6332	5|10	.|0.87932	.|D	.|0	-17.3246|-17.3246	14.3911|14.3911	0.66978|0.66978	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|846;1614;2010;2020	.|B7ZAV2;Q5JUP9;P35658-4;P35658	.|.;.;.;NU214_HUMAN	L|C	31|2020;2010;2021;1999;1614;1449;846;8	.|ENSP00000352400:S2020C;ENSP00000396576:S2010C;ENSP00000405014:S2021C;ENSP00000436793:S846C	.|ENSP00000352400:S2020C	Q|S	+|+	2|1	0|0	NUP214|NUP214	133093523|133093523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.884000|8.884000	0.92432|0.92432	2.004000|2.004000	0.58718|0.58718	0.460000|0.460000	0.39030|0.39030	CAG|AGC		0.607	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		41	5	0	0	0	0.003214	0	41	5				
NTNG2	84628	broad.mit.edu	37	9	135073628	135073628	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:135073628C>A	ENST00000393229.3	+	3	1265	c.489C>A	c.(487-489)ccC>ccA	p.P163P	NTNG2_ENST00000372179.3_Silent_p.P163P|NTNG2_ENST00000393228.4_Silent_p.P163P|NTNG2_ENST00000360670.3_Silent_p.P163P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	163	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTGGCAGCCCTACCAGTTCT	0.677																																							uc004cbh.2		NA																	0					0						c.(487-489)CCC>CCA		netrin G2 precursor							52.0	41.0	44.0					9																	135073628		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073628C>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.489C>A	9.37:g.135073628C>A							p.P163P	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1265	+			163			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.489C>A	CCDS6946.1																																																																																				0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		30	9	1	0	2.47511e-08	0.008361	2.90288e-08	30	9				
SARDH	1757	broad.mit.edu	37	9	136529095	136529095	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:136529095C>G	ENST00000371872.4	-	21	2930	c.2673G>C	c.(2671-2673)gaG>gaC	p.E891D	SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Missense_Mutation_p.E341D|SARDH_ENST00000439388.1_Missense_Mutation_p.E891D|SARDH_ENST00000422262.2_Missense_Mutation_p.E723D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	891					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCCCATTCTCTCCAGGGCAT	0.572																																							uc004cep.3		NA																	0					0						c.(2671-2673)GAG>GAC		sarcosine dehydrogenase precursor							137.0	108.0	118.0					9																	136529095		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136529095C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2673G>C	9.37:g.136529095C>G	ENSP00000360938:p.Glu891Asp					SARDH_uc004ceo.2_Missense_Mutation_p.E891D|SARDH_uc011mdn.1_Missense_Mutation_p.E891D|SARDH_uc011mdo.1_Missense_Mutation_p.E723D|SARDH_uc004cen.2_Missense_Mutation_p.E341D	p.E891D	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	21	2807	-			891					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2673G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399220	0.62177	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.80653	-0.65;-1.4;-0.65;-1.05	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.82393	0.5027	L	0.39898	1.24	0.80722	D	1	P;P	0.45827	0.603;0.867	P;P	0.56088	0.583;0.791	T	0.77324	-0.2630	10	0.14656	T	0.56	-36.6501	18.1878	0.89797	0.0:1.0:0.0:0.0	.	891;341	Q9UL12;Q5SYV2	SARDH_HUMAN;.	D	891;341;891;723	ENSP00000360938:E891D;ENSP00000360934:E341D;ENSP00000403084:E891D;ENSP00000415537:E723D	ENSP00000360934:E341D	E	-	3	2	SARDH	135518916	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.219000	0.51200	2.478000	0.83669	0.561000	0.74099	GAG		0.572	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			33	17	0	0	0	0.002445	0	33	17				
COL5A1	1289	broad.mit.edu	37	9	137630602	137630602	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:137630602G>T	ENST00000371817.3	+	11	1856	c.1442G>T	c.(1441-1443)gGa>gTa	p.G481V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	481	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCTTCCCGGACCTCCAGGA	0.562																																							uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1441-1443)GGA>GTA		alpha 1 type V collagen preproprotein							68.0	80.0	76.0					9																	137630602		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630602G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1442G>T	9.37:g.137630602G>T	ENSP00000360882:p.Gly481Val						p.G481V	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	11	1824	+		Myeloproliferative disorder(178;0.0341)	481			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1442G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661664	0.47572	.	.	ENSG00000130635	ENST00000371817	D	0.99353	-5.77	4.69	4.69	0.59074	.	0.000000	0.64402	U	0.000001	D	0.99648	0.9870	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97390	0.9988	10	0.87932	D	0	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	481	P20908	CO5A1_HUMAN	V	481	ENSP00000360882:G481V	ENSP00000360882:G481V	G	+	2	0	COL5A1	136770423	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	6.348000	0.73009	2.166000	0.68216	0.491000	0.48974	GGA		0.562	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		73	14	1	0	6.44082e-31	0.00361	1.08036e-30	73	14				
COL5A1	1289	broad.mit.edu	37	9	137727020	137727020	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:137727020C>T	ENST00000371817.3	+	65	5754	c.5340C>T	c.(5338-5340)ccC>ccT	p.P1780P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1780	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACAACAACCCCTACATCCGCG	0.672																																							uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(5338-5340)CCC>CCT		alpha 1 type V collagen preproprotein							85.0	71.0	76.0					9																	137727020		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137727020C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5340C>T	9.37:g.137727020C>T						uc004cff.2_Intron	p.P1780P	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	65	5722	+		Myeloproliferative disorder(178;0.0341)	1780			Fibrillar collagen NC1.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.5340C>T	CCDS6982.1																																																																																				0.672	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		19	7	0	0	0	0.007413	0	19	7				
PPP1R26	9858	broad.mit.edu	37	9	138377399	138377399	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:138377399A>T	ENST00000356818.2	+	4	1592	c.1043A>T	c.(1042-1044)aAg>aTg	p.K348M	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.K348M|PPP1R26_ENST00000605660.1_Missense_Mutation_p.K348M|PPP1R26_ENST00000401470.3_Missense_Mutation_p.K348M|PPP1R26_ENST00000605286.1_Missense_Mutation_p.K348M	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	348					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGGAGGGGAAAGCGAGTCATG	0.617																																							uc004cfr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1042-1044)AAG>ATG		1A6/DRIM (down-regulated in metastasis)							57.0	65.0	62.0					9																	138377399		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138377399A>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1043A>T	9.37:g.138377399A>T	ENSP00000349274:p.Lys348Met						p.K348M	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	1592	+			348					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1043A>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578143	0.65878	.	.	ENSG00000196422	ENST00000356818	T	0.11385	2.78	5.36	-10.1	0.00402	.	1.347700	0.04636	N	0.404552	T	0.11836	0.0288	L	0.53249	1.67	0.09310	N	1	P	0.41569	0.755	P	0.46479	0.518	T	0.23583	-1.0184	10	0.66056	D	0.02	-7.0677	3.7664	0.08624	0.2499:0.2216:0.4202:0.1083	.	348	Q5T8A7	PPR26_HUMAN	M	348	ENSP00000349274:K348M	ENSP00000349274:K348M	K	+	2	0	KIAA0649	137517220	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.074000	0.11450	-2.511000	0.00503	-0.993000	0.02533	AAG		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		58	15	0	0	0	0.00361	0	58	15				
LHX3	8022	broad.mit.edu	37	9	139090759	139090759	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:139090759C>A	ENST00000371748.5	-	4	697	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L	LHX3_ENST00000371746.3_Missense_Mutation_p.V206L	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	201					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGACCTGCACCACGCGCATG	0.741																																							uc004cha.2		NA																	0				skin(1)	1						c.(601-603)GTG>TTG		LIM homeobox protein 3 isoform a							16.0	18.0	18.0					9																	139090759		2158	4235	6393	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090759C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.601G>T	9.37:g.139090759C>A	ENSP00000360813:p.Val201Leu					LHX3_uc004cgz.2_Missense_Mutation_p.V206L	p.V201L	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	4	698	-		Myeloproliferative disorder(178;0.0511)	201			Homeobox.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.601G>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670689	0.88348	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.98958	-4.91;-5.27	3.93	3.93	0.45458	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.140991	0.47093	D	0.000246	D	0.98789	0.9592	M	0.87758	2.905	0.80722	D	1	P;P	0.49253	0.921;0.86	P;P	0.53102	0.718;0.588	D	0.99616	1.0982	10	0.87932	D	0	.	15.1195	0.72432	0.0:1.0:0.0:0.0	.	201;206	Q9UBR4;F1T0D9	LHX3_HUMAN;.	L	201;206;204	ENSP00000360813:V201L;ENSP00000360811:V206L	ENSP00000319224:V204L	V	-	1	0	LHX3	138230580	0.999000	0.42202	0.317000	0.25265	0.649000	0.38597	4.249000	0.58766	2.023000	0.59567	0.555000	0.69702	GTG		0.741	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			27	1	1	0	4.87955e-14	0.005443	6.38502e-14	27	1				
FAM69B	138311	broad.mit.edu	37	9	139617948	139617948	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:139617948T>A	ENST00000371692.4	+	5	1114	c.1018T>A	c.(1018-1020)Tgc>Agc	p.C340S	SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.C253S|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000416970.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	340						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CAGCACCGACTGCACCTACGG	0.682																																							uc004cik.2		NA																	0					0						c.(1018-1020)TGC>AGC		hypothetical protein LOC138311							18.0	15.0	16.0					9																	139617948		2196	4298	6494	SO:0001583	missense	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617948T>A		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.1018T>A	9.37:g.139617948T>A	ENSP00000360757:p.Cys340Ser					FAM69B_uc004cil.2_Missense_Mutation_p.C253S|SNHG7_uc004cim.2_Intron	p.C340S	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	5	1112	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	340			Lumenal (Potential).		Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	ENST00000371692.4	37	c.1018T>A	CCDS7004.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186569	0.78789	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	D;D	0.86956	-2.19;-2.14	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.92961	0.7760	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93742	0.7051	10	0.72032	D	0.01	-50.3163	13.9381	0.64036	0.0:0.0:0.0:1.0	.	340	Q5VUD6	FA69B_HUMAN	S	340;253	ENSP00000360757:C340S;ENSP00000360756:C253S	ENSP00000360756:C253S	C	+	1	0	FAM69B	138737769	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	7.096000	0.76960	1.893000	0.54813	0.379000	0.24179	TGC		0.682	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		13	0	0	0	0	0.001368	0	13	0				
ABCA2	20	broad.mit.edu	37	9	139912785	139912785	+	Missense_Mutation	SNP	C	C	T	rs368762705		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:139912785C>T	ENST00000371605.3	-	13	1982	c.1835G>A	c.(1834-1836)cGg>cAg	p.R612Q	ABCA2_ENST00000265662.5_Missense_Mutation_p.R613Q|ABCA2_ENST00000341511.6_Missense_Mutation_p.R613Q|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	612					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCGTCCTTCCGGGTCTGGAA	0.677																																							uc011mem.1		NA																	0					0						c.(1834-1836)CGG>CAG		ATP-binding cassette, sub-family A, member 2			GLN/ARG,GLN/ARG	0,3856		0,0,1928	62.0	65.0	64.0		1838,1928	2.9	0.5	9		64	1,8203		0,1,4101	no	missense,missense	ABCA2	NM_001606.4,NM_212533.2	43,43	0,1,6029	TT,TC,CC		0.0122,0.0,0.0083	benign,benign	613/2437,643/2467	139912785	1,12059	1928	4102	6030	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912785C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1835G>A	9.37:g.139912785C>T	ENSP00000360666:p.Arg612Gln					ABCA2_uc011mel.1_Missense_Mutation_p.R613Q|ABCA2_uc004ckl.1_Missense_Mutation_p.R543Q|ABCA2_uc004ckm.1_Missense_Mutation_p.R643Q|ABCA2_uc004ckn.1_RNA|ABCA2_uc004cko.1_Missense_Mutation_p.R389Q	p.R612Q	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	13	1983	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	612					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1835G>A		.	.	.	.	.	.	.	.	.	.	c	3.752	-0.051300	0.07407	0.0	1.22E-4	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.95205	-3.64;-3.64;-3.64	3.93	2.94	0.34122	.	0.390690	0.08080	U	1.000000	D	0.85035	0.5605	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.014;0.015	B;B	0.04013	0.001;0.001	T	0.74383	-0.3683	10	0.24483	T	0.36	.	3.9779	0.09483	0.2014:0.5926:0.0:0.206	.	612;643	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	Q	613;612;643;613	ENSP00000265662:R613Q;ENSP00000360666:R612Q;ENSP00000344155:R613Q	ENSP00000265662:R613Q	R	-	2	0	ABCA2	139032606	0.975000	0.34042	0.530000	0.27963	0.384000	0.30261	2.445000	0.44899	1.746000	0.51805	0.306000	0.20318	CGG		0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		46	5	0	0	0	0.00361	0	46	5				
SHOX	6473	broad.mit.edu	37	X	591819	591819	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:591819G>T	ENST00000554971.1	+	1	278	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	SHOX_ENST00000381575.1_Missense_Mutation_p.G63C|SHOX_ENST00000334060.3_Missense_Mutation_p.G63C|SHOX_ENST00000381578.1_Missense_Mutation_p.G63C			O15266	SHOX_HUMAN	short stature homeobox	63					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACGGAGGGCGGCGGCCACTG	0.582																																					Ovarian(95;18 1419 12424 14056 28266)	Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1		NA																	0					0						c.(187-189)GGC>TGC		short stature homeobox isoform SHOXa							76.0	93.0	87.0					X																	591819		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591819G>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.187G>T	X.37:g.591819G>T	ENSP00000452016:p.Gly63Cys					SHOX_uc004cpi.2_Missense_Mutation_p.G63C	p.G63C	NM_000451	NP_000442	O15266	SHOX_HUMAN			2	878	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	63					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.187G>T	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	8.591	0.884555	0.17467	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94650	-3.48;-3.37;-3.37;-3.48	2.26	-4.51	0.03483	.	1.065490	0.07433	U	0.896056	D	0.91838	0.7417	L	0.44542	1.39	0.09310	N	1	D;P	0.53885	0.963;0.807	P;B	0.51355	0.667;0.342	D	0.84859	0.0818	10	0.62326	D	0.03	.	4.4188	0.11470	0.4915:0.1682:0.3402:0.0	.	63;63	O15266-2;O15266	.;SHOX_HUMAN	C	63	ENSP00000335505:G63C;ENSP00000370990:G63C;ENSP00000452016:G63C;ENSP00000370987:G63C	ENSP00000335505:G63C	G	+	1	0	SHOX	511819	0.998000	0.40836	0.681000	0.30009	0.344000	0.29017	0.213000	0.17521	-0.860000	0.04099	-0.803000	0.03203	GGC		0.582	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		52	20	1	0	7.05377e-20	0.00361	1.03663e-19	52	20				
P2RY8	286530	broad.mit.edu	37	X	1584744	1584744	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:1584744C>A	ENST00000381297.4	-	2	918	c.708G>T	c.(706-708)gtG>gtT	p.V236V	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCAGGCCCACCGCGCGCC	0.657			T	CRLF2	"""B-ALL, Downs associated ALL"""																																		uc004cpz.2		NA		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		0				lung(5)	5						c.(706-708)GTG>GTT		G-protein coupled purinergic receptor P2Y8							47.0	41.0	43.0					X																	1584744		2202	4295	6497	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584744C>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.708G>T	X.37:g.1584744C>A							p.V236V	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	956	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	236			Cytoplasmic (Potential).			Silent	SNP	ENST00000381297.4	37	c.708G>T	CCDS14115.1																																																																																				0.657	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		13	7	1	0	2.27111e-07	0.001368	2.59901e-07	13	7				
MXRA5	25878	broad.mit.edu	37	X	3238188	3238188	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:3238188G>T	ENST00000217939.6	-	5	5692	c.5538C>A	c.(5536-5538)ttC>ttA	p.F1846L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1846						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAGAGACCAGAATTTGGATG	0.507																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5536-5538)TTC>TTA		adlican precursor							89.0	82.0	84.0					X																	3238188		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238188G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5538C>A	X.37:g.3238188G>T	ENSP00000217939:p.Phe1846Leu						p.F1846L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5695	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1846					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5538C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083152	0.36758	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65178	-0.14	3.51	3.51	0.40186	.	0.000000	0.41001	U	0.000979	T	0.47893	0.1470	N	0.08118	0	0.25584	N	0.986762	D	0.63880	0.993	P	0.52758	0.708	T	0.38265	-0.9669	10	0.18276	T	0.48	.	10.9162	0.47137	0.101:0.0:0.899:0.0	.	1846	Q9NR99	MXRA5_HUMAN	L	1846	ENSP00000217939:F1846L	ENSP00000217939:F1846L	F	-	3	2	MXRA5	3248188	1.000000	0.71417	0.666000	0.29783	0.175000	0.22909	3.098000	0.50259	1.394000	0.46624	0.458000	0.33432	TTC		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		25	7	1	0	3.28513e-13	0.003954	4.2328e-13	25	7				
MXRA5	25878	broad.mit.edu	37	X	3242201	3242201	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:3242201G>T	ENST00000217939.6	-	5	1679	c.1525C>A	c.(1525-1527)Cca>Aca	p.P509T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	509	Ig-like C2-type 1.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGATAGATGGACTCTCAGAA	0.532																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(1525-1527)CCA>ACA		adlican precursor							78.0	70.0	73.0					X																	3242201		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242201G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1525C>A	X.37:g.3242201G>T	ENSP00000217939:p.Pro509Thr						p.P509T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1682	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	509			Ig-like C2-type 1.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1525C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314878	0.23908	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.73258	-0.73	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39985	U	0.001212	D	0.85583	0.5730	M	0.88979	2.995	0.24512	N	0.994209	D	0.89917	1.0	D	0.79784	0.993	T	0.79754	-0.1670	10	0.62326	D	0.03	.	15.1058	0.72322	0.0:0.0:1.0:0.0	.	509	Q9NR99	MXRA5_HUMAN	T	509	ENSP00000217939:P509T	ENSP00000217939:P509T	P	-	1	0	MXRA5	3252201	0.999000	0.42202	0.012000	0.15200	0.074000	0.17049	3.239000	0.51360	1.439000	0.47511	0.431000	0.28591	CCA		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		58	9	1	0	1.0442e-30	0.00361	1.74695e-30	58	9				
PRPS2	5634	broad.mit.edu	37	X	12817345	12817345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:12817345G>T	ENST00000380668.5	+	2	270	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	PRPS2_ENST00000398491.2_Missense_Mutation_p.V48L|PRPS2_ENST00000489404.1_Missense_Mutation_p.V48L	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	48					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGGTGAAAGCGTGAGAGGGGA	0.488																																							uc004cvb.2		NA																	0					0						c.(142-144)GTG>TTG		phosphoribosyl pyrophosphate synthetase 2							124.0	108.0	113.0					X																	12817345		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12817345G>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.142G>T	X.37:g.12817345G>T	ENSP00000370043:p.Val48Leu					PRPS2_uc004cva.2_Missense_Mutation_p.V48L|PRPS2_uc010nec.2_5'UTR	p.V48L	NM_002765	NP_002756	P11908	PRPS2_HUMAN			2	266	+			48					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.142G>T	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970517	0.92919	.	.	ENSG00000101911	ENST00000380663;ENST00000380668;ENST00000398491;ENST00000489404	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.89534	3.04	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.64237	0.923;0.873	D	0.97031	0.9750	10	0.66056	D	0.02	-15.0408	19.1045	0.93287	0.0:0.0:1.0:0.0	.	48;48	P11908;P11908-2	PRPS2_HUMAN;.	L	48	ENSP00000370038:V48L;ENSP00000370043:V48L;ENSP00000381504:V48L;ENSP00000419380:V48L	ENSP00000370038:V48L	V	+	1	0	PRPS2	12727266	1.000000	0.71417	0.456000	0.27044	0.974000	0.67602	9.273000	0.95719	2.462000	0.83206	0.513000	0.50165	GTG		0.488	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		19	5	1	0	1.45105e-14	0.006122	1.9182e-14	19	5				
SUPT20HL2	170067	broad.mit.edu	37	X	24330962	24330962	+	IGR	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:24330962A>G								AC096509.1 (26168 upstream) : AC004552.1 (35963 downstream)																							GGTAACCAGGAGGTTGCATAT	0.468																																							uc011mjw.1		NA																	0					0						c.(469-471)CCT>CCC		family with sequence similarity 48, member B2							178.0	140.0	152.0					X																	24330962		1568	3582	5150	SO:0001628	intergenic_variant	170067							g.chrX:24330962A>G																													X.37:g.24330962A>G							p.P157P	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	471	-			157						Silent	SNP		37	c.471T>C																																																																																				0	0.468									32	10	0	0	0	0.00361	0	32	10				
MAGEB6	158809	broad.mit.edu	37	X	26212836	26212836	+	Silent	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:26212836C>G	ENST00000379034.1	+	2	1022	c.873C>G	c.(871-873)ctC>ctG	p.L291L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	291	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGATGTCGCTCCTGGTTGTGA	0.542																																							uc004dbr.2		NA																	0				ovary(3)	3						c.(871-873)CTC>CTG		melanoma antigen family B, 6							164.0	153.0	157.0					X																	26212836		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212836C>G	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.873C>G	X.37:g.26212836C>G						MAGEB6_uc010ngc.1_Silent_p.L71L	p.L291L	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1022	+			291			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.873C>G	CCDS14217.1																																																																																				0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		78	19	0	0	0	0.00361	0	78	19				
MAGEB10	139422	broad.mit.edu	37	X	27839475	27839475	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:27839475G>T	ENST00000356790.2	+	3	297	c.52G>T	c.(52-54)Gcc>Tcc	p.A18S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	18								p.A18S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ACGCCGTCAGGCCCGAGGAGG	0.522																																							uc004dbw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|central_nervous_system(1)	3						c.(52-54)GCC>TCC		melanoma antigen family B, 10							54.0	55.0	54.0					X																	27839475		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839475G>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.52G>T	X.37:g.27839475G>T	ENSP00000368304:p.Ala18Ser						p.A18S	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	279	+			18					Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.52G>T	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069331	0.36470	.	.	ENSG00000177689	ENST00000356790	T	0.09255	3.0	2.51	-0.124	0.13523	Melanoma associated antigen, MAGE, N-terminal (1);	0.339646	0.26029	U	0.026768	T	0.24005	0.0581	M	0.80746	2.51	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.09596	-1.0667	10	0.51188	T	0.08	.	1.9661	0.03396	0.2797:0.0:0.436:0.2843	.	18	Q96LZ2	MAGBA_HUMAN	S	18	ENSP00000368304:A18S	ENSP00000368304:A18S	A	+	1	0	MAGEB10	27749396	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.117000	0.10708	-0.126000	0.11682	0.415000	0.27848	GCC		0.522	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		13	6	1	0	3.27435e-08	0.00245	3.81942e-08	13	6				
DCAF8L1	139425	broad.mit.edu	37	X	27998429	27998429	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:27998429A>G	ENST00000441525.1	-	1	1137	c.1023T>C	c.(1021-1023)tcT>tcC	p.S341S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	341										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAGGATTCATAGAGATTGTAT	0.403																																							uc004dbx.1		NA																	0				ovary(3)|skin(1)	4						c.(1021-1023)TCT>TCC		DDB1 and CUL4 associated factor 8-like 1							95.0	81.0	85.0					X																	27998429		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998429A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1023T>C	X.37:g.27998429A>G							p.S341S	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1138	-			341			WD 4.		B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1023T>C	CCDS35222.1																																																																																				0.403	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		7	13	0	0	0	0.001984	0	7	13				
DMD	1756	broad.mit.edu	37	X	32717412	32717412	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:32717412T>C	ENST00000357033.4	-	8	856		c.e8-2		DMD_ENST00000288447.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TATCAACATCTGTAAGCACAT	0.353																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.e8-1		dystrophin Dp427m isoform							162.0	120.0	134.0					X																	32717412		2202	4300	6502	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32717412T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.650-2A>G	X.37:g.32717412T>C						DMD_uc004dcz.2_Splice_Site_p.D94_splice|DMD_uc004dcy.1_Splice_Site_p.D213_splice|DMD_uc004ddb.1_Splice_Site_p.D209_splice|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Splice_Site_p.D209_splice|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	p.D217_splice	NM_004006	NP_003997	P11532	DMD_HUMAN			8	894	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)						E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.650_splice	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	t	21.0	4.087531	0.76642	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7239	0.69329	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	32627333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.509000	0.81698	1.858000	0.53909	0.412000	0.27726	.		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Intron	8	6	0	0	0	0.004482	0	8	6				
FAM47A	158724	broad.mit.edu	37	X	34149284	34149284	+	Missense_Mutation	SNP	C	C	A	rs371417690		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:34149284C>A	ENST00000346193.3	-	1	1163	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	371										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACCCCCGACGAGTCTT	0.642																																							uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1111-1113)CGG>CTG		hypothetical protein LOC158724							34.0	36.0	35.0					X																	34149284		2201	4298	6499	SO:0001583	missense	158724							g.chrX:34149284C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1112G>T	X.37:g.34149284C>A	ENSP00000345029:p.Arg371Leu						p.R371L	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1145	-			371					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1112G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.200029	0.00296	.	.	ENSG00000185448	ENST00000346193	T	0.19394	2.15	0.207	0.207	0.15214	.	.	.	.	.	T	0.16854	0.0405	L	0.48642	1.525	0.09310	N	1	B	0.33857	0.429	B	0.35470	0.203	T	0.23583	-1.0184	8	0.29301	T	0.29	.	.	.	.	.	371	Q5JRC9	FA47A_HUMAN	L	371	ENSP00000345029:R371L	ENSP00000345029:R371L	R	-	2	0	FAM47A	34059205	0.072000	0.21174	0.006000	0.13384	0.006000	0.05464	0.104000	0.15313	0.275000	0.22094	0.279000	0.19357	CGG		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		25	6	1	0	1.36565e-18	0.00278	1.96369e-18	25	6				
FAM47A	158724	broad.mit.edu	37	X	34149686	34149686	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:34149686G>T	ENST00000346193.3	-	1	761	c.710C>A	c.(709-711)cCg>cAg	p.P237Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	237	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGAGGCTCCGGGCGGAGATG	0.632																																							uc004ddg.2		NA																	1	Deletion - In frame(1)		ovary(1)	ovary(4)|central_nervous_system(1)	5						c.(709-711)CCG>CAG		hypothetical protein LOC158724							31.0	32.0	32.0					X																	34149686		2201	4294	6495	SO:0001583	missense	158724							g.chrX:34149686G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.710C>A	X.37:g.34149686G>T	ENSP00000345029:p.Pro237Gln						p.P237Q	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	743	-			237			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.710C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889229	0.17540	.	.	ENSG00000185448	ENST00000346193	T	0.14516	2.5	0.235	-0.47	0.12131	.	.	.	.	.	T	0.22742	0.0549	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.13818	-1.0495	8	0.39692	T	0.17	.	.	.	.	.	237	Q5JRC9	FA47A_HUMAN	Q	237	ENSP00000345029:P237Q	ENSP00000345029:P237Q	P	-	2	0	FAM47A	34059607	0.282000	0.24268	0.004000	0.12327	0.004000	0.04260	0.319000	0.19522	-0.724000	0.04908	-0.713000	0.03633	CCG		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		28	5	1	0	3.73148e-12	0.007291	4.73846e-12	28	5				
FAM47A	158724	broad.mit.edu	37	X	34150015	34150015	+	Silent	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:34150015G>T	ENST00000346193.3	-	1	432	c.381C>A	c.(379-381)gcC>gcA	p.A127A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	127										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGGATGCTTGGCCATTAGCT	0.542																																							uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(379-381)GCC>GCA		hypothetical protein LOC158724							89.0	82.0	84.0					X																	34150015		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150015G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.381C>A	X.37:g.34150015G>T							p.A127A	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	414	-			127					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.381C>A	CCDS43926.1																																																																																				0.542	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		32	6	1	0	1.22384e-17	0.002836	1.73272e-17	32	6				
MED14	9282	broad.mit.edu	37	X	40531114	40531114	+	Splice_Site	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:40531114T>C	ENST00000324817.1	-	23	3250	c.3132A>G	c.(3130-3132)ccA>ccG	p.P1044P		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1044	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATATCTTACCTGGAGACTGTG	0.433																																							uc004dex.3		NA																	0				breast(2)|kidney(1)|skin(1)	4						c.(3130-3132)CCA>CCG		mediator complex subunit 14							177.0	153.0	161.0					X																	40531114		2203	4300	6503	SO:0001630	splice_region_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40531114T>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3133+1A>G	X.37:g.40531114T>C							p.P1044P	NM_004229	NP_004220	O60244	MED14_HUMAN			23	3272	-			1044			Pro-rich.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.3132A>G	CCDS14254.1																																																																																				0.433	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	Silent	61	9	0	0	0	0.00361	0	61	9				
ZNF182	7569	broad.mit.edu	37	X	47836120	47836120	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:47836120T>A	ENST00000396965.1	-	7	1716	c.1366A>T	c.(1366-1368)Aaa>Taa	p.K456*	ZNF182_ENST00000305127.6_Nonsense_Mutation_p.K456*|ZNF182_ENST00000376943.3_Nonsense_Mutation_p.K437*	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCAAAGGGTTTCTCTCCTGAA	0.428																																							uc004dir.2		NA																	0				ovary(2)|lung(1)	3						c.(1366-1368)AAA>TAA		zinc finger protein 21 isoform 1							60.0	54.0	56.0					X																	47836120		2203	4300	6503	SO:0001587	stop_gained	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836120T>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1366A>T	X.37:g.47836120T>A	ENSP00000380165:p.Lys456*					ZNF182_uc004dis.2_Nonsense_Mutation_p.K437*|ZNF182_uc004dit.2_Nonsense_Mutation_p.K456*|ZNF182_uc011mlu.1_Nonsense_Mutation_p.K436*	p.K456*	NM_006962	NP_008893	P17025	ZN182_HUMAN			7	1712	-			456					A2IDD7|Q3KP67|Q96QH7	Nonsense_Mutation	SNP	ENST00000396965.1	37	c.1366A>T	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	T	38	7.221132	0.98143	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8788	0.46927	0.0:0.0:0.0:1.0	.	.	.	.	X	437;456;456	.	ENSP00000306351:K456X	K	-	1	0	ZNF182	47721064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.764000	0.62264	1.768000	0.52137	0.441000	0.28932	AAA		0.428	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		16	4	0	0	0	0.003163	0	16	4				
ZNF182	7569	broad.mit.edu	37	X	47836531	47836531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:47836531C>A	ENST00000396965.1	-	7	1305	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	ZNF182_ENST00000305127.6_Nonsense_Mutation_p.E319*|ZNF182_ENST00000376943.3_Nonsense_Mutation_p.E300*	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TCATTACATTCATAAGGTTTT	0.418																																							uc004dir.2		NA																	0				ovary(2)|lung(1)	3						c.(955-957)GAA>TAA		zinc finger protein 21 isoform 1							90.0	82.0	85.0					X																	47836531		2203	4300	6503	SO:0001587	stop_gained	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836531C>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.955G>T	X.37:g.47836531C>A	ENSP00000380165:p.Glu319*					ZNF182_uc004dis.2_Nonsense_Mutation_p.E300*|ZNF182_uc004dit.2_Nonsense_Mutation_p.E319*|ZNF182_uc011mlu.1_Nonsense_Mutation_p.E299*	p.E319*	NM_006962	NP_008893	P17025	ZN182_HUMAN			7	1301	-			319			C2H2-type 5.		A2IDD7|Q3KP67|Q96QH7	Nonsense_Mutation	SNP	ENST00000396965.1	37	c.955G>T	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	36	5.962611	0.97151	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	.	.	.	4.72	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	10.038	0.42139	0.0:0.8982:0.0:0.1018	.	.	.	.	X	300;319;319	.	ENSP00000306351:E319X	E	-	1	0	ZNF182	47721475	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-1.081000	0.03403	1.118000	0.41863	0.544000	0.68410	GAA		0.418	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		17	5	1	0	1.37522e-17	0.007413	1.93996e-17	17	5				
SSX1	6756	broad.mit.edu	37	X	48121245	48121245	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48121245C>A	ENST00000376919.3	+	5	461	c.325C>A	c.(325-327)Ccg>Acg	p.P109T		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						CAGAATCATCCCGAAGGTGAG	0.408			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1		NA		Dom	yes		X	Xp11.23-p11.22	6756		"""synovial sarcoma, X breakpoint 1"""			M				SS18/SSX1(1169)	0				soft_tissue(1169)	1169						c.(325-327)CCG>ACG		synovial sarcoma, X breakpoint 1							110.0	100.0	103.0					X																	48121245		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48121245C>A	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.325C>A	X.37:g.48121245C>A	ENSP00000366118:p.Pro109Thr						p.P109T	NM_005635	NP_005626	Q16384	SSX1_HUMAN			5	416	+			109					A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.325C>A	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	6.375	0.437254	0.12104	.	.	ENSG00000126752	ENST00000376919	T	0.06608	3.28	1.61	1.61	0.23674	.	3.522020	0.01194	N	0.007413	T	0.10294	0.0252	L	0.58810	1.83	0.09310	N	1	P	0.47762	0.9	B	0.42214	0.38	T	0.30297	-0.9983	10	0.59425	D	0.04	.	6.1218	0.20157	0.0:1.0:0.0:0.0	.	109	Q16384	SSX1_HUMAN	T	109	ENSP00000366118:P109T	ENSP00000366118:P109T	P	+	1	0	SSX1	48006189	0.000000	0.05858	0.052000	0.19188	0.015000	0.08874	-0.774000	0.04684	1.095000	0.41419	0.171000	0.16805	CCG		0.408	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		15	3	1	0	2.85442e-18	0.002096	4.08015e-18	15	3				
SSX1	6756	broad.mit.edu	37	X	48121247	48121247	+	Silent	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48121247G>C	ENST00000376919.3	+	5	463	c.327G>C	c.(325-327)ccG>ccC	p.P109P		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GAATCATCCCGAAGGTGAGTA	0.408			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1		NA		Dom	yes		X	Xp11.23-p11.22	6756		"""synovial sarcoma, X breakpoint 1"""			M				SS18/SSX1(1169)	0				soft_tissue(1169)	1169						c.(325-327)CCG>CCC		synovial sarcoma, X breakpoint 1							109.0	99.0	102.0					X																	48121247		2203	4299	6502	SO:0001819	synonymous_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48121247G>C	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.327G>C	X.37:g.48121247G>C							p.P109P	NM_005635	NP_005626	Q16384	SSX1_HUMAN			5	418	+			109					A3KN76|Q08AJ2|Q5JQ64	Silent	SNP	ENST00000376919.3	37	c.327G>C	CCDS14290.1																																																																																				0.408	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		13	3	0	0	0	0.009535	0	13	3				
SLC38A5	92745	broad.mit.edu	37	X	48320401	48320401	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48320401C>A	ENST00000376876.3	-	10	1606	c.763G>T	c.(763-765)Gac>Tac	p.D255Y	SLC38A5_ENST00000376875.1_Missense_Mutation_p.D204Y|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000317669.5_Missense_Mutation_p.D255Y			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	255					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCTGTGAGTCAACTGTGAAC	0.527																																							uc010nid.2		NA																	0				ovary(3)	3						c.(763-765)GAC>TAC		solute carrier family 38, member 5							95.0	69.0	77.0					X																	48320401		2203	4300	6503	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48320401C>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.763G>T	X.37:g.48320401C>A	ENSP00000366073:p.Asp255Tyr					SLC38A5_uc004djk.3_Missense_Mutation_p.D204Y	p.D255Y	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			11	941	-			255			Extracellular (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.763G>T	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	c	19.12	3.765639	0.69878	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948	T;T;T;T;T	0.02301	4.35;4.35;4.35;4.35;4.35	4.88	3.88	0.44766	.	0.046382	0.85682	D	0.000000	T	0.04679	0.0127	L	0.34521	1.04	0.44946	D	0.99796	D	0.59357	0.985	D	0.65323	0.934	T	0.40831	-0.9542	10	0.87932	D	0	.	3.8221	0.08839	0.0:0.6574:0.0:0.3426	.	255	Q8WUX1	S38A5_HUMAN	Y	255;204;255;255;255	ENSP00000366073:D255Y;ENSP00000366071:D204Y;ENSP00000313740:D255Y;ENSP00000402988:D255Y;ENSP00000407258:D255Y	ENSP00000313740:D255Y	D	-	1	0	SLC38A5	48205345	0.994000	0.37717	1.000000	0.80357	0.904000	0.53231	2.718000	0.47236	2.018000	0.59344	0.436000	0.28706	GAC		0.527	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		8	2	1	0	5.18039e-06	0.00308	5.70876e-06	8	2				
GATA1	2623	broad.mit.edu	37	X	48650612	48650612	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:48650612C>A	ENST00000376670.3	+	3	693	c.582C>A	c.(580-582)ctC>ctA	p.L194L	GATA1_ENST00000376665.3_Silent_p.L194L	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	194					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GTGGAACTCTCCCCCTGCCTC	0.552			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	Pancreas(9;429 505 11287 29617)	uc004dkq.3		NA		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)|p.V74_C199del(1)	haematopoietic_and_lymphoid_tissue(2)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(580-582)CTC>CTA		GATA binding protein 1							42.0	42.0	42.0					X																	48650612		2203	4300	6503	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650612C>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.582C>A	X.37:g.48650612C>A							p.L194L	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	673	+			194					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.582C>A	CCDS14305.1																																																																																				0.552	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		23	6	1	0	3.83957e-06	0.00278	4.24813e-06	23	6				
CCNB3	85417	broad.mit.edu	37	X	50053609	50053609	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:50053609G>T	ENST00000376042.1	+	6	2738	c.2440G>T	c.(2440-2442)Gct>Tct	p.A814S	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A814S			Q8WWL7	CCNB3_HUMAN	cyclin B3	814					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGAGAAGGAAGCTGTCCTCAA	0.567																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2440-2442)GCT>TCT		cyclin B3 isoform 3							40.0	36.0	37.0					X																	50053609		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053609G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2440G>T	X.37:g.50053609G>T	ENSP00000365210:p.Ala814Ser					CCNB3_uc004doy.2_Missense_Mutation_p.A814S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.A814S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	2738	+	Ovarian(276;0.236)		814					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2440G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811691	0.16537	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34072	1.38;1.38	3.2	-4.21	0.03812	.	4.085520	0.00589	N	0.000341	T	0.19327	0.0464	N	0.08118	0	0.09310	N	1	B	0.26363	0.147	B	0.22386	0.039	T	0.14671	-1.0464	9	.	.	.	.	10.6286	0.45523	0.744:0.0:0.256:0.0	.	814	Q8WWL7	CCNB3_HUMAN	S	814	ENSP00000365210:A814S;ENSP00000276014:A814S	.	A	+	1	0	CCNB3	50070349	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.470000	0.00991	-1.561000	0.01684	0.483000	0.47432	GCT		0.567	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			8	2	1	0	2.17888e-05	0.006214	2.37539e-05	8	2				
WNK3	65267	broad.mit.edu	37	X	54282275	54282275	+	Silent	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:54282275A>G	ENST00000375159.2	-	11	2147	c.2148T>C	c.(2146-2148)ccT>ccC	p.P716P	WNK3_ENST00000354646.2_Silent_p.P716P|WNK3_ENST00000375169.3_Silent_p.P716P			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	716					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGGGTTATCAGGGCTACTGA	0.418																																							uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(2146-2148)CCT>CCC		WNK lysine deficient protein kinase 3 isoform 2							185.0	153.0	164.0					X																	54282275		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54282275A>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2148T>C	X.37:g.54282275A>G						WNK3_uc004dtc.1_Silent_p.P716P	p.P716P	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			12	2587	-			716					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.2148T>C	CCDS14357.1																																																																																				0.418	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		3	38	0	0	0	0.009096	0	3	38				
ALAS2	212	broad.mit.edu	37	X	55042087	55042087	+	Silent	SNP	C	C	G	rs150494562	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:55042087C>G	ENST00000330807.5	-	8	1229	c.1092G>C	c.(1090-1092)ctG>ctC	p.L364L	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Silent_p.L351L|ALAS2_ENST00000335854.4_Silent_p.L327L	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	364					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGGACCCATACAGTCCTACAG	0.542																																							uc004dua.3		NA																	0				ovary(1)	1						c.(1090-1092)CTG>CTC		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						91.0	74.0	80.0					X																	55042087		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042087C>G		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1092G>C	X.37:g.55042087C>G						ALAS2_uc004dub.3_Silent_p.L351L|ALAS2_uc004dud.3_Silent_p.L327L	p.L364L	NM_000032	NP_000023	P22557	HEM0_HUMAN			8	1230	-			364					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.1092G>C	CCDS14366.1																																																																																				0.542	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		23	10	0	0	0	0.001882	0	23	10				
USP51	158880	broad.mit.edu	37	X	55513961	55513961	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:55513961C>A	ENST00000500968.3	-	2	1494	c.1412G>T	c.(1411-1413)gGg>gTg	p.G471V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	471	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GGCCTCCTGCCCACCACTATC	0.468																																							uc004dun.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1411-1413)GGG>GTG		ubiquitin specific protease 51							146.0	111.0	123.0					X																	55513961		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513961C>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1412G>T	X.37:g.55513961C>A	ENSP00000423333:p.Gly471Val					USP51_uc011moo.1_Missense_Mutation_p.G175V	p.G471V	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	1491	-			471					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1412G>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	6.725	0.502431	0.12822	.	.	ENSG00000247746	ENST00000500968	T	0.29917	1.55	3.04	-2.4	0.06583	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.445267	0.23734	N	0.045083	T	0.26412	0.0645	L	0.55743	1.74	0.53005	D	0.99996	P	0.43352	0.804	P	0.47346	0.544	T	0.09997	-1.0649	10	0.33940	T	0.23	.	3.0059	0.06028	0.3406:0.3776:0.0:0.2818	.	471	Q70EK9	UBP51_HUMAN	V	471	ENSP00000423333:G471V	ENSP00000423333:G471V	G	-	2	0	USP51	55530686	0.875000	0.30112	0.021000	0.16686	0.575000	0.36095	0.668000	0.25127	-0.645000	0.05458	-0.328000	0.08392	GGG		0.468	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		41	14	1	0	2.40228e-13	0.003214	3.1077e-13	41	14				
MTMR8	55613	broad.mit.edu	37	X	63569932	63569932	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:63569932G>T	ENST00000374852.3	-	5	554	c.487C>A	c.(487-489)Cct>Act	p.P163T	MTMR8_ENST00000453546.1_Missense_Mutation_p.P163T	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	163	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACTATTTCAGGAGGGTAGGTG	0.348																																							uc004dvs.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(487-489)CCT>ACT		myotubularin related protein 8							93.0	79.0	84.0					X																	63569932		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569932G>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.487C>A	X.37:g.63569932G>T	ENSP00000363985:p.Pro163Thr					MTMR8_uc011mou.1_Missense_Mutation_p.P163T|MTMR8_uc004dvt.1_Missense_Mutation_p.P163T	p.P163T	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			5	555	-			163			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.487C>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	0.292	-0.979204	0.02197	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.92397	-3.03;-3.03	2.96	2.96	0.34315	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.269718	0.24143	U	0.041141	T	0.79516	0.4459	N	0.05012	-0.13	0.26996	N	0.965036	B;B	0.15141	0.001;0.012	B;B	0.24701	0.002;0.055	T	0.64980	-0.6279	10	0.11182	T	0.66	.	8.1203	0.30967	0.0:0.0:0.7595:0.2405	.	163;163	B4DQL0;Q96EF0	.;MTMR8_HUMAN	T	163	ENSP00000394003:P163T;ENSP00000363985:P163T	ENSP00000363985:P163T	P	-	1	0	MTMR8	63486657	0.999000	0.42202	0.994000	0.49952	0.591000	0.36615	1.244000	0.32778	1.473000	0.48159	0.513000	0.50165	CCT		0.348	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		26	6	1	0	9.39395e-14	0.00632	1.22343e-13	26	6				
NHSL2	340527	broad.mit.edu	37	X	71360027	71360027	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:71360027G>T	ENST00000373677.1	+	2	2793	c.1531G>T	c.(1531-1533)Gtg>Ttg	p.V511L	NHSL2_ENST00000510661.1_Missense_Mutation_p.V646L|NHSL2_ENST00000540800.1_Missense_Mutation_p.V877L|NHSL2_ENST00000535692.1_Missense_Mutation_p.V511L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	511										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GAAGCCTCCGGTGGCCCGGAG	0.547																																							uc011mqa.1		NA																	0					0						c.(2629-2631)GTG>TTG		NHS-like 2							54.0	46.0	49.0					X																	71360027		2203	4299	6502	SO:0001583	missense	340527							g.chrX:71360027G>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1531G>T	X.37:g.71360027G>T	ENSP00000362781:p.Val511Leu					NHSL2_uc004eak.1_Missense_Mutation_p.V511L|NHSL2_uc010nli.2_Missense_Mutation_p.V646L	p.V877L	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	2629	+	Renal(35;0.156)		877					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2629G>T		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.303560	0.00240	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.38401	1.74;1.14;1.15;1.14	5.41	1.44	0.22558	.	0.462111	0.19336	N	0.116800	T	0.14442	0.0349	N	0.14661	0.345	0.18873	N	0.999983	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.31668	-0.9935	10	0.02654	T	1	-0.1338	4.8315	0.13443	0.1303:0.3002:0.4774:0.0921	.	877;646;511	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	877;511;646;511	ENSP00000444617:V877L;ENSP00000362781:V511L;ENSP00000424079:V646L;ENSP00000444914:V511L	ENSP00000362781:V511L	V	+	1	0	NHSL2	71276752	0.018000	0.18449	0.270000	0.24601	0.732000	0.41865	0.244000	0.18124	0.234000	0.21139	-0.216000	0.12614	GTG		0.547	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		21	8	1	0	1.50039e-11	0.001882	1.88181e-11	21	8				
CDX4	1046	broad.mit.edu	37	X	72667208	72667208	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:72667208C>G	ENST00000373514.2	+	1	119	c.119C>G	c.(118-120)cCa>cGa	p.P40R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	40					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGTCCGATGCCAGCCTCCAAT	0.632																																							uc011mqk.1		NA																	0					0						c.(118-120)CCA>CGA		caudal type homeobox 4							37.0	35.0	36.0					X																	72667208		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667208C>G	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.119C>G	X.37:g.72667208C>G	ENSP00000362613:p.Pro40Arg						p.P40R	NM_005193	NP_005184	O14627	CDX4_HUMAN			1	119	+	Renal(35;0.156)		40					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.119C>G	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	9.931	1.214950	0.22373	.	.	ENSG00000131264	ENST00000373514	T	0.45276	0.9	2.57	2.57	0.30868	Caudal-like activation domain (1);	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.71581	2.175	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	T	0.58842	-0.7565	10	0.56958	D	0.05	-5.6753	7.8578	0.29493	0.0:1.0:0.0:0.0	.	40	O14627	CDX4_HUMAN	R	40	ENSP00000362613:P40R	ENSP00000362613:P40R	P	+	2	0	CDX4	72583933	1.000000	0.71417	0.885000	0.34714	0.049000	0.14656	2.235000	0.43044	1.561000	0.49584	0.436000	0.28706	CCA		0.632	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		12	2	0	0	0	0.000978	0	12	2				
MAGEE1	57692	broad.mit.edu	37	X	75649313	75649313	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:75649313C>T	ENST00000361470.2	+	1	1268	c.990C>T	c.(988-990)acC>acT	p.T330T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	330	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GACTGAGCACCTCCGTGCCGC	0.706																																							uc004ecm.1		NA																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(988-990)ACC>ACT		melanoma antigen family E, 1							22.0	22.0	22.0					X																	75649313		2200	4295	6495	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649313C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.990C>T	X.37:g.75649313C>T							p.T330T	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1197	+			330			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.990C>T	CCDS14433.1																																																																																				0.706	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		15	3	0	0	0	0.004007	0	15	3				
CYSLTR1	10800	broad.mit.edu	37	X	77528879	77528879	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:77528879C>A	ENST00000373304.3	-	3	657	c.365G>T	c.(364-366)tGc>tTc	p.C122F		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	122					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AATTGCAATGCACCGGAAAAA	0.408																																							uc004edb.2		NA																	0				ovary(1)	1						c.(364-366)TGC>TTC		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						63.0	54.0	57.0					X																	77528879		2203	4299	6502	SO:0001583	missense	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528879C>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.365G>T	X.37:g.77528879C>A	ENSP00000362401:p.Cys122Phe					CYSLTR1_uc010nma.2_Missense_Mutation_p.C122F|CYSLTR1_uc010nmb.2_Missense_Mutation_p.C122F	p.C122F	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN			3	765	-			122			Helical; Name=3; (Potential).		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.365G>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.534111	0.00951	.	.	ENSG00000173198	ENST00000373304	T	0.69806	-0.43	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.050950	0.85682	D	0.000000	T	0.35740	0.0942	N	0.02357	-0.585	0.36928	D	0.89173	B	0.12013	0.005	B	0.12837	0.008	T	0.36016	-0.9765	10	0.10636	T	0.68	.	9.2922	0.37793	0.2148:0.7852:0.0:0.0	.	122	Q9Y271	CLTR1_HUMAN	F	122	ENSP00000362401:C122F	ENSP00000362401:C122F	C	-	2	0	CYSLTR1	77415535	1.000000	0.71417	0.982000	0.44146	0.878000	0.50629	4.825000	0.62708	1.823000	0.53134	0.452000	0.29995	TGC		0.408	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			9	3	1	0	7.48243e-07	0.006214	8.41338e-07	9	3				
TBX22	50945	broad.mit.edu	37	X	79286084	79286084	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:79286084C>G	ENST00000373294.5	+	8	1065	c.1037C>G	c.(1036-1038)cCt>cGt	p.P346R	TBX22_ENST00000442340.1_Missense_Mutation_p.P226R|TBX22_ENST00000373291.1_Missense_Mutation_p.P226R|TBX22_ENST00000373296.3_Missense_Mutation_p.P346R	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	346					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGCTTTTCACCTATGTTTCAT	0.483																																							uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1036-1038)CCT>CGT		T-box 22 isoform 1							131.0	118.0	123.0					X																	79286084		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286084C>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1037C>G	X.37:g.79286084C>G	ENSP00000362390:p.Pro346Arg					TBX22_uc004edi.1_Missense_Mutation_p.P226R|TBX22_uc004edj.1_Missense_Mutation_p.P346R	p.P346R	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1171	+			346					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1037C>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299960	0.60195	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	4.63	4.63	0.57726	.	1.110610	0.06800	N	0.788481	D	0.94192	0.8136	M	0.71581	2.175	0.58432	D	0.999991	D	0.76494	0.999	D	0.66716	0.946	D	0.88308	0.2954	10	0.45353	T	0.12	.	15.2162	0.73267	0.0:1.0:0.0:0.0	.	346	Q9Y458	TBX22_HUMAN	R	346;226;346;226	ENSP00000362393:P346R;ENSP00000396394:P226R;ENSP00000362390:P346R;ENSP00000362388:P226R	ENSP00000362388:P226R	P	+	2	0	TBX22	79172740	0.999000	0.42202	0.443000	0.26883	0.844000	0.47949	5.592000	0.67543	1.882000	0.54519	0.509000	0.49947	CCT		0.483	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		39	7	0	0	0	0.004878	0	39	7				
BRWD3	254065	broad.mit.edu	37	X	79947450	79947450	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:79947450C>G	ENST00000373275.4	-	30	3569	c.3353G>C	c.(3352-3354)gGt>gCt	p.G1118A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1118					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GACAGGAACACCAGCACCAAC	0.383																																							uc004edt.2		NA																	0				ovary(4)	4						c.(3352-3354)GGT>GCT		bromodomain and WD repeat domain containing 3							55.0	44.0	48.0					X																	79947450		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79947450C>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3353G>C	X.37:g.79947450C>G	ENSP00000362372:p.Gly1118Ala					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G714A|BRWD3_uc004edp.2_Missense_Mutation_p.G947A|BRWD3_uc004edq.2_Missense_Mutation_p.G714A|BRWD3_uc010nmj.1_Missense_Mutation_p.G714A|BRWD3_uc004edr.2_Missense_Mutation_p.G788A|BRWD3_uc004eds.2_Missense_Mutation_p.G714A|BRWD3_uc004edu.2_Missense_Mutation_p.G788A|BRWD3_uc004edv.2_Missense_Mutation_p.G714A|BRWD3_uc004edw.2_Missense_Mutation_p.G714A|BRWD3_uc004edx.2_Missense_Mutation_p.G714A|BRWD3_uc004edy.2_Missense_Mutation_p.G714A|BRWD3_uc004edz.2_Missense_Mutation_p.G788A|BRWD3_uc004eea.2_Missense_Mutation_p.G788A|BRWD3_uc004eeb.2_Missense_Mutation_p.G714A	p.G1118A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			30	3616	-			1118					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3353G>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243123	0.39697	.	.	ENSG00000165288	ENST00000373275	T	0.53640	0.61	4.57	4.57	0.56435	.	0.052863	0.85682	D	0.000000	T	0.38639	0.1048	N	0.16098	0.37	0.58432	D	0.999995	P	0.46784	0.884	P	0.47162	0.54	T	0.20273	-1.0280	9	.	.	.	-15.9632	16.6791	0.85287	0.0:1.0:0.0:0.0	.	1118	Q6RI45	BRWD3_HUMAN	A	1118	ENSP00000362372:G1118A	.	G	-	2	0	BRWD3	79834106	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.320000	0.79064	2.110000	0.64415	0.523000	0.50628	GGT		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		6	3	0	0	0	0.001168	0	6	3				
CPXCR1	53336	broad.mit.edu	37	X	88008694	88008694	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:88008694G>T	ENST00000276127.4	+	3	538	c.279G>T	c.(277-279)caG>caT	p.Q93H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.Q93H	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	93							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTCTACTTCAGACCCCCATTC	0.413																																							uc004efd.3		NA																	0				ovary(3)	3						c.(277-279)CAG>CAT		CPX chromosome region, candidate 1							38.0	34.0	36.0					X																	88008694		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008694G>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.279G>T	X.37:g.88008694G>T	ENSP00000276127:p.Gln93His					CPXCR1_uc004efc.3_Missense_Mutation_p.Q93H	p.Q93H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	538	+			93					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.279G>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	7.420	0.636443	0.14386	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.27720	1.65;1.65	3.33	1.5	0.22942	.	0.463226	0.16143	N	0.227616	T	0.31199	0.0789	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.08229	-1.0732	9	.	.	.	-1.3665	3.419	0.07386	0.1419:0.0:0.6072:0.2509	.	93	Q8N123	CPXCR_HUMAN	H	93	ENSP00000276127:Q93H;ENSP00000362203:Q93H	.	Q	+	3	2	CPXCR1	87895350	0.660000	0.27420	0.005000	0.12908	0.019000	0.09904	0.939000	0.28978	0.264000	0.21851	0.594000	0.82650	CAG		0.413	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		9	4	1	0	9.70103e-10	0.008291	1.17042e-09	9	4				
PCDH11X	27328	broad.mit.edu	37	X	91134082	91134082	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:91134082T>A	ENST00000373094.1	+	2	3688	c.2843T>A	c.(2842-2844)tTc>tAc	p.F948Y	PCDH11X_ENST00000361724.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F948Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F948Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.F948Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F948Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F948Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	948					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGCCTGCCTTCCAAATTCAG	0.488																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2842-2844)TTC>TAC		protocadherin 11 X-linked isoform c							182.0	161.0	168.0					X																	91134082		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134082T>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2843T>A	X.37:g.91134082T>A	ENSP00000362186:p.Phe948Tyr					PCDH11X_uc004efl.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efo.1_Missense_Mutation_p.F948Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efm.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efn.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efh.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efj.1_Missense_Mutation_p.F948Y	p.F948Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3688	+			948			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2843T>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.645001	0.67358	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.16	5.16	0.70880	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.74258	2.255	0.42367	D	0.992431	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.998;0.997;0.997;0.998;0.998;0.999;0.997;0.997	T	0.60727	-0.7206	10	0.72032	D	0.01	.	13.1864	0.59684	0.0:0.0:0.0:1.0	.	948;948;948;948;948;948;948;948	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	948	ENSP00000378746:F948Y;ENSP00000362186:F948Y;ENSP00000362189:F948Y;ENSP00000355040:F948Y;ENSP00000362180:F948Y;ENSP00000423762:F948Y;ENSP00000355105:F948Y;ENSP00000384758:F948Y;ENSP00000298274:F948Y	ENSP00000298274:F948Y	F	+	2	0	PCDH11X	91020738	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.411000	0.80078	1.706000	0.51276	0.486000	0.48141	TTC		0.488	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		63	24	0	0	0	0.00361	0	63	24				
TCEAL2	140597	broad.mit.edu	37	X	101382344	101382344	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:101382344G>A	ENST00000372780.1	+	3	761	c.542G>A	c.(541-543)aGg>aAg	p.R181K	TCEAL2_ENST00000329035.2_Missense_Mutation_p.R181K	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAGGATAAAAGGAGAAAAAGC	0.433																																							uc004eip.2		NA																	0					0						c.(541-543)AGG>AAG		transcription elongation factor A (SII)-like 2							116.0	123.0	120.0					X																	101382344		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382344G>A	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.542G>A	X.37:g.101382344G>A	ENSP00000361866:p.Arg181Lys						p.R181K	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	761	+			181					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.542G>A	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583543	0.13749	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.08807	3.05;3.05	3.35	-1.84	0.07809	.	1.025440	0.07785	N	0.953900	T	0.02688	0.0081	N	0.03115	-0.41	0.09310	N	1	P	0.44478	0.836	B	0.40444	0.329	T	0.17107	-1.0380	10	0.02654	T	1	.	5.5307	0.16983	0.0:0.1367:0.2835:0.5798	.	181	Q9H3H9	TCAL2_HUMAN	K	181	ENSP00000361866:R181K;ENSP00000332359:R181K	ENSP00000332359:R181K	R	+	2	0	TCEAL2	101269000	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	0.146000	0.16180	-0.516000	0.06470	0.594000	0.82650	AGG		0.433	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		42	16	0	0	0	0.002522	0	42	16				
TCEAL6	158931	broad.mit.edu	37	X	101396142	101396142	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:101396142T>A	ENST00000372774.3	-	3	411	c.162A>T	c.(160-162)ccA>ccT	p.P54P	TCEAL6_ENST00000372773.1_Silent_p.P54P	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	54	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						cctcatcacctggctctccct	0.567																																							uc004eiq.2		NA																	0				ovary(1)	1						c.(160-162)CCA>CCT		transcription elongation factor A (SII)-like 6							151.0	121.0	131.0					X																	101396142		2203	4300	6503	SO:0001819	synonymous_variant	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396142T>A	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.162A>T	X.37:g.101396142T>A							p.P54P	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN			3	323	-			54			Glu-rich.		Q5H9J8	Silent	SNP	ENST00000372774.3	37	c.162A>T	CCDS43978.1																																																																																				0.567	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		45	15	0	0	0	0.002522	0	45	15				
GPRASP2	114928	broad.mit.edu	37	X	101972246	101972246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:101972246G>T	ENST00000535209.1	+	4	3280	c.2449G>T	c.(2449-2451)Gag>Tag	p.E817*	GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E817*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E817*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	817						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAATTTGAGGAGTTAGCTAA	0.378																																							uc004ejk.2		NA																	0				ovary(1)	1						c.(2449-2451)GAG>TAG		G protein-coupled receptor associated sorting							111.0	117.0	115.0					X																	101972246		2202	4291	6493	SO:0001587	stop_gained	114928					cytoplasm	protein binding	g.chrX:101972246G>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2449G>T	X.37:g.101972246G>T	ENSP00000437394:p.Glu817*					GPRASP2_uc004ejl.2_Nonsense_Mutation_p.E817*|GPRASP2_uc004ejm.2_Nonsense_Mutation_p.E817*|GPRASP2_uc011mrp.1_Nonsense_Mutation_p.E156*	p.E817*	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	3783	+			817					D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	c.2449G>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	42	9.513255	0.99192	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.04	0.708	0.18144	.	0.910103	0.09159	N	0.840504	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-0.7602	5.5714	0.17198	0.5819:0.0:0.4181:0.0	.	.	.	.	X	817	.	ENSP00000339057:E817X	E	+	1	0	GPRASP2	101858902	0.992000	0.36948	0.637000	0.29366	0.890000	0.51754	0.916000	0.28651	0.009000	0.14813	-0.322000	0.08575	GAG		0.378	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		36	7	1	0	1.60099e-16	0.004878	2.20692e-16	36	7				
RAB40AL	282808	broad.mit.edu	37	X	102192749	102192749	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:102192749C>T	ENST00000218249.5	+	1	550	c.503C>T	c.(502-504)aCg>aTg	p.T168M	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	168					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T168M(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GAGTCTTTCACGGAGCTGGCC	0.612																																							uc004ejs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(502-504)ACG>ATG		RAB40A, member RAS oncogene family-like							40.0	36.0	38.0					X																	102192749		2203	4300	6503	SO:0001583	missense	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192749C>T	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.503C>T	X.37:g.102192749C>T	ENSP00000218249:p.Thr168Met						p.T168M	NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN			1	550	+			168					Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	c.503C>T	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	10.70	1.425171	0.25639	.	.	ENSG00000102128	ENST00000218249	T	0.80123	-1.34	0.819	0.819	0.18785	.	0.114839	0.31709	N	0.007193	T	0.71702	0.3371	L	0.42245	1.32	0.54753	D	0.999985	P	0.50819	0.939	P	0.46940	0.532	T	0.65059	-0.6260	10	0.20046	T	0.44	.	7.2459	0.26121	0.0:0.9999:0.0:1.0E-4	.	168	P0C0E4	RB40L_HUMAN	M	168	ENSP00000218249:T168M	ENSP00000218249:T168M	T	+	2	0	RAB40AL	102079405	1.000000	0.71417	0.400000	0.26346	0.119000	0.20118	5.305000	0.65750	0.682000	0.31407	0.462000	0.41574	ACG		0.612	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		16	3	0	0	0	0.003163	0	16	3				
GLRA4	441509	broad.mit.edu	37	X	102979467	102979467	+	Splice_Site	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:102979467A>T	ENST00000372617.4	-	3	691		c.e3+1		GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4							cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGATCCCTTACCATTGTGGT	0.542																																							uc011mse.1		NA																	0					0						c.e3+1		glycine receptor, alpha 4 precursor							85.0	86.0	86.0					X																	102979467		2070	4204	6274	SO:0001630	splice_region_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102979467A>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.270+1T>A	X.37:g.102979467A>T						GLRA4_uc010nou.2_Splice_Site_p.M90_splice	p.M90_splice	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			3	691	-									Splice_Site	SNP	ENST00000372617.4	37	c.270_splice	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481401	0.63849	.	.	ENSG00000188828	ENST00000372617	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3362	0.49505	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLRA4	102866123	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.182000	0.77689	1.949000	0.56562	0.430000	0.28490	.		0.542	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452	Intron	4	0	0	0	0	0.000602	0	4	0				
PLP1	5354	broad.mit.edu	37	X	103040647	103040647	+	Silent	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:103040647T>A	ENST00000303958.2	+	2	287	c.141T>A	c.(139-141)atT>atA	p.I47I	PLP1_ENST00000361621.2_Silent_p.I47I|PLP1_ENST00000418604.1_Silent_p.I47I	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	47					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AAAAGCTAATTGAGACCTATT	0.483																																							uc010nov.2		NA																	0				ovary(1)	1						c.(139-141)ATT>ATA		proteolipid protein 1 isoform 1							200.0	179.0	186.0					X																	103040647		2203	4300	6503	SO:0001819	synonymous_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040647T>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.141T>A	X.37:g.103040647T>A						RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.I47I|PLP1_uc004elj.2_Silent_p.I47I|PLP1_uc011msf.1_Intron|PLP1_uc010now.1_Silent_p.I51I|PLP1_uc010nox.2_5'Flank	p.I47I	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			3	421	+			47			Extracellular (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	c.141T>A	CCDS14513.1																																																																																				0.483	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			68	18	0	0	0	0.00361	0	68	18				
IRS4	8471	broad.mit.edu	37	X	107977509	107977509	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:107977509G>T	ENST00000372129.2	-	1	2142	c.2066C>A	c.(2065-2067)gCc>gAc	p.A689D	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	689	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAAGCTCTGGCTCTGTGGGG	0.502																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(2065-2067)GCC>GAC		insulin receptor substrate 4							212.0	202.0	205.0					X																	107977509		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977509G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2066C>A	X.37:g.107977509G>T	ENSP00000361202:p.Ala689Asp						p.A689D	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	2099	-			689			CRK-binding.			Missense_Mutation	SNP	ENST00000372129.2	37	c.2066C>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168196	0.38315	.	.	ENSG00000133124	ENST00000372129	T	0.35789	1.29	5.22	1.37	0.22104	.	0.317809	0.22005	N	0.065951	T	0.29093	0.0723	L	0.57536	1.79	0.24449	N	0.994493	B	0.28128	0.201	B	0.32289	0.143	T	0.17107	-1.0380	10	0.24483	T	0.36	-3.3931	4.4139	0.11447	0.3275:0.0:0.5253:0.1472	.	689	O14654	IRS4_HUMAN	D	689	ENSP00000361202:A689D	ENSP00000361202:A689D	A	-	2	0	IRS4	107864165	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	2.096000	0.41738	0.220000	0.20860	0.600000	0.82982	GCC		0.502	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		106	17	1	0	6.36747e-66	0.00361	1.18639e-65	106	17				
GUCY2F	2986	broad.mit.edu	37	X	108708535	108708535	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:108708535A>G	ENST00000218006.2	-	3	1159	c.868T>C	c.(868-870)Tat>Cat	p.Y290H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	290					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTGTGCTTATAAGGTAAACTG	0.468																																							uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(868-870)TAT>CAT		guanylate cyclase 2F precursor							160.0	128.0	139.0					X																	108708535		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108708535A>G	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.868T>C	X.37:g.108708535A>G	ENSP00000218006:p.Tyr290His					GUCY2F_uc011msq.1_RNA	p.Y290H	NM_001522	NP_001513	P51841	GUC2F_HUMAN			3	1144	-			290			Extracellular (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.868T>C	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262211	0.59431	.	.	ENSG00000101890	ENST00000218006	T	0.73789	-0.78	3.94	3.94	0.45596	Extracellular ligand-binding receptor (1);	0.068868	0.64402	D	0.000008	T	0.67590	0.2909	L	0.53617	1.68	0.54753	D	0.999985	P	0.37955	0.612	B	0.40009	0.316	T	0.62680	-0.6803	10	0.16896	T	0.51	.	10.183	0.42980	1.0:0.0:0.0:0.0	.	290	P51841	GUC2F_HUMAN	H	290	ENSP00000218006:Y290H	ENSP00000218006:Y290H	Y	-	1	0	GUCY2F	108595191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.579000	0.90781	1.764000	0.52075	0.486000	0.48141	TAT		0.468	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		28	12	0	0	0	0.00361	0	28	12				
PAK3	5063	broad.mit.edu	37	X	110463590	110463590	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:110463590C>A	ENST00000372010.1	+	19	2037	c.1595C>A	c.(1594-1596)cCa>cAa	p.P532Q	PAK3_ENST00000372007.5_Missense_Mutation_p.P517Q|PAK3_ENST00000518291.1_Missense_Mutation_p.P553Q|PAK3_ENST00000360648.4_Missense_Mutation_p.P553Q|PAK3_ENST00000417227.1_Missense_Mutation_p.P538Q|PAK3_ENST00000446737.1_Missense_Mutation_p.P517Q|PAK3_ENST00000262836.4_Missense_Mutation_p.P532Q|PAK3_ENST00000425146.1_Missense_Mutation_p.P517Q|PAK3_ENST00000519681.1_Missense_Mutation_p.P538Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTGCAGCATCCATTTTTAAAA	0.388										TSP Lung(19;0.15)																													uc004epa.2		NA																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(1594-1596)CCA>CAA		p21-activated kinase 3 isoform d							40.0	33.0	35.0					X																	110463590		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110463590C>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1595C>A	X.37:g.110463590C>A	ENSP00000361080:p.Pro532Gln	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.P517Q|PAK3_uc010npu.1_Missense_Mutation_p.P517Q|PAK3_uc004eoz.2_Missense_Mutation_p.P517Q|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.P553Q|PAK3_uc010npw.1_Missense_Mutation_p.P538Q	p.P532Q	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			15	1622	+			532			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.1595C>A	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287937	0.40494	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175438	0.51477	D	0.000085	T	0.32675	0.0837	M	0.87328	2.875	0.80722	D	1	B;B;B;B	0.14012	0.009;0.002;0.001;0.003	B;B;B;B	0.19666	0.026;0.008;0.013;0.015	T	0.10268	-1.0637	10	0.48119	T	0.1	.	19.7362	0.96205	0.0:1.0:0.0:0.0	.	538;553;532;517	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	Q	517;517;532;538;517;553;553;538;532	ENSP00000410853:P517Q;ENSP00000401982:P517Q;ENSP00000361080:P532Q;ENSP00000429113:P538Q;ENSP00000361077:P517Q;ENSP00000428921:P553Q;ENSP00000353864:P553Q;ENSP00000389172:P538Q;ENSP00000262836:P532Q	ENSP00000262836:P532Q	P	+	2	0	PAK3	110350246	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.422000	0.80217	2.618000	0.88619	0.600000	0.82982	CCA		0.388	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		6	5	1	0	0.00198382	0.001984	0.00205832	6	5				
TRPC5	7224	broad.mit.edu	37	X	111090614	111090614	+	Silent	SNP	C	C	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:111090614C>T	ENST00000262839.2	-	6	2346	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	476					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCCGCAATCAGAGTCGGGT	0.453																																							uc004epl.1		NA																	0				urinary_tract(1)	1						c.(1426-1428)CTG>CTA		transient receptor potential cation channel,							111.0	91.0	98.0					X																	111090614		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090614C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1428G>A	X.37:g.111090614C>T						TRPC5_uc004epm.1_Silent_p.L476L	p.L476L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			6	2347	-			476			Helical; (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1428G>A	CCDS14561.1																																																																																				0.453	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		13	5	0	0	0	0.00245	0	13	5				
TRPC5	7224	broad.mit.edu	37	X	111195290	111195290	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:111195290C>G	ENST00000262839.2	-	2	1277	c.359G>C	c.(358-360)cGg>cCg	p.R120P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	120					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCGCTGGGCCGCCTGTAGCT	0.547																																							uc004epl.1		NA																	0				urinary_tract(1)	1						c.(358-360)CGG>CCG		transient receptor potential cation channel,							91.0	89.0	89.0					X																	111195290		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195290C>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.359G>C	X.37:g.111195290C>G	ENSP00000262839:p.Arg120Pro					TRPC5_uc004epm.1_Missense_Mutation_p.R120P	p.R120P	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	1278	-			120			ANK 3.|Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.359G>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361643	0.41801	.	.	ENSG00000072315	ENST00000262839	T	0.52295	0.67	5.6	2.12	0.27331	Ankyrin repeat-containing domain (2);	0.173201	0.49916	D	0.000123	T	0.24699	0.0599	N	0.10760	0.04	0.30089	N	0.808456	B;B	0.10296	0.001;0.003	B;B	0.16289	0.009;0.015	T	0.12578	-1.0542	10	0.48119	T	0.1	-0.126	7.711	0.28677	0.0:0.1897:0.0:0.8103	.	121;120	Q59G51;Q9UL62	.;TRPC5_HUMAN	P	120	ENSP00000262839:R120P	ENSP00000262839:R120P	R	-	2	0	TRPC5	111081946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.836000	0.39191	0.403000	0.25479	0.513000	0.50165	CGG		0.547	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		46	6	0	0	0	0.002852	0	46	6				
ZBTB33	10009	broad.mit.edu	37	X	119388873	119388873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:119388873G>T	ENST00000326624.2	+	2	1831	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.E535*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	535	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTCTTGCAGAATATCGCAC	0.423																																							uc004esn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1603-1605)GAA>TAA		kaiso							136.0	121.0	126.0					X																	119388873		2203	4300	6503	SO:0001587	stop_gained	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388873G>T	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1603G>T	X.37:g.119388873G>T	ENSP00000314153:p.Glu535*					ZBTB33_uc010nqm.1_Nonsense_Mutation_p.E535*	p.E535*	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			2	1831	+			535			C2H2-type 2.|Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Nonsense_Mutation	SNP	ENST00000326624.2	37	c.1603G>T	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	38	7.247586	0.98161	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.473	17.3434	0.87303	0.0:0.0:1.0:0.0	.	.	.	.	X	535	.	ENSP00000314153:E535X	E	+	1	0	ZBTB33;AC002086.1	119272901	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.308000	0.77769	0.513000	0.50165	GAA		0.423	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		42	9	1	0	1.23103e-26	0.003214	1.98566e-26	42	9				
THOC2	57187	broad.mit.edu	37	X	122802161	122802161	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:122802161A>C	ENST00000245838.8	-	10	897	c.866T>G	c.(865-867)cTt>cGt	p.L289R	THOC2_ENST00000491737.1_Missense_Mutation_p.L174R|THOC2_ENST00000355725.4_Missense_Mutation_p.L289R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	289					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATCAGCCGGAAGAAGCTAAAA	0.303																																							uc004etu.2		NA																	0				ovary(3)	3						c.(865-867)CTT>CGT		THO complex 2							110.0	96.0	100.0					X																	122802161		1810	4069	5879	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122802161A>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.866T>G	X.37:g.122802161A>C	ENSP00000245838:p.Leu289Arg					THOC2_uc011muh.1_Missense_Mutation_p.L210R|THOC2_uc011mui.1_Missense_Mutation_p.L174R	p.L289R	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			10	898	-			289					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.866T>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.778981	0.70107	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000023	T	0.61515	0.2353	M	0.79475	2.455	0.80722	D	1	P;P	0.50710	0.938;0.835	P;B	0.46659	0.523;0.367	T	0.62397	-0.6863	9	0.12766	T	0.61	-7.381	14.2128	0.65776	1.0:0.0:0.0:0.0	.	210;289	B4DKZ6;Q8NI27	.;THOC2_HUMAN	R	289;289;174;210	.	ENSP00000245838:L289R	L	-	2	0	THOC2	122629842	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.443000	0.90320	1.802000	0.52723	0.486000	0.48141	CTT		0.303	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			35	14	0	0	0	0.002836	0	35	14				
ACTRT1	139741	broad.mit.edu	37	X	127185830	127185830	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:127185830C>A	ENST00000371124.3	-	1	552	c.356G>T	c.(355-357)cGa>cTa	p.R119L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R119P(1)|p.R119L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TAGCTTTTCTCGAATTTCCCT	0.488																																							uc004eum.2		NA																	2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(355-357)CGA>CTA		actin-related protein T1							230.0	219.0	223.0					X																	127185830		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185830C>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.356G>T	X.37:g.127185830C>A	ENSP00000360165:p.Arg119Leu						p.R119L	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	553	-			119					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.356G>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714239	0.48622	.	.	ENSG00000123165	ENST00000371124	D	0.97066	-4.23	3.76	3.76	0.43208	.	0.118284	0.36066	N	0.002818	D	0.98957	0.9645	H	0.98133	4.155	0.46901	D	0.999248	D	0.89917	1.0	D	0.97110	1.0	D	0.98688	1.0695	10	0.87932	D	0	.	12.6307	0.56655	0.0:1.0:0.0:0.0	.	119	Q8TDG2	ACTT1_HUMAN	L	119	ENSP00000360165:R119L	ENSP00000360165:R119L	R	-	2	0	ACTRT1	127013511	0.998000	0.40836	0.115000	0.21578	0.040000	0.13550	5.261000	0.65496	2.133000	0.65898	0.544000	0.68410	CGA		0.488	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		92	25	1	0	2.68325e-40	0.00361	4.74786e-40	92	25				
RP1-274L7.1	0	broad.mit.edu	37	X	129629754	129629754	+	lincRNA	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:129629754C>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							GTGGCACCGACAGGACTGGAC	0.537																																							uc010nrh.2		NA																	0				skin(1)	1						c.(622-624)CAG>AAG		hypothetical protein LOC404636							122.0	100.0	107.0					X																	129629754		2203	4300	6503			55855							g.chrX:129629754C>A																													X.37:g.129629754C>A						uc004evu.2_Intron	p.Q208K	NM_207009	NP_996892				all cancers(201;0.0293)	1	840	+									Missense_Mutation	SNP	ENST00000458525.1	37	c.622C>A																																																																																					0.537	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			32	11	1	0	7.11191e-15	0.002836	9.49891e-15	32	11				
TFDP3	51270	broad.mit.edu	37	X	132351734	132351734	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:132351734T>C	ENST00000310125.4	-	1	642	c.554A>G	c.(553-555)aAg>aGg	p.K185R		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	185	Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ACCAATCCACTTGATCTTCTT	0.443																																							uc004exb.1		NA																	0				ovary(1)	1						c.(553-555)AAG>AGG		transcription factor Dp family, member 3							103.0	93.0	96.0					X																	132351734		2203	4300	6503	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351734T>C	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.554A>G	X.37:g.132351734T>C	ENSP00000385461:p.Lys185Arg						p.K185R	NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN			1	643	-	Acute lymphoblastic leukemia(192;0.000127)		185			Potential.|Involved in negatively regulating E2F activity.|DEF box (By similarity).		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.554A>G	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	t	1.260	-0.615979	0.03663	.	.	ENSG00000183434	ENST00000310125	T	0.24350	1.86	0.208	0.208	0.15221	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	L	0.28400	0.85	0.58432	D	0.999998	B	0.11235	0.004	B	0.23150	0.044	T	0.15665	-1.0429	9	0.08837	T	0.75	.	4.7322	0.12970	0.0:3.0E-4:0.0:0.9997	.	185	Q5H9I0	TFDP3_HUMAN	R	185	ENSP00000385461:K185R	ENSP00000385461:K185R	K	-	2	0	TFDP3	132179400	1.000000	0.71417	0.068000	0.19968	0.068000	0.16541	3.773000	0.55333	0.227000	0.20999	0.225000	0.17782	AAG		0.443	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		15	5	0	0	0	0.00245	0	15	5				
GPC4	2239	broad.mit.edu	37	X	132445320	132445320	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:132445320T>A	ENST00000370828.3	-	4	1367	c.843A>T	c.(841-843)caA>caT	p.Q281H	GPC4_ENST00000535467.1_Missense_Mutation_p.Q211H	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	281					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGAGATCCCCTTGGTTGGCCA	0.453																																							uc004exc.1		NA																	0					0						c.(841-843)CAA>CAT		glypican 4 precursor							168.0	153.0	158.0					X																	132445320		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132445320T>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.843A>T	X.37:g.132445320T>A	ENSP00000359864:p.Gln281His					GPC4_uc011mvg.1_Missense_Mutation_p.Q211H	p.Q281H	NM_001448	NP_001439	O75487	GPC4_HUMAN			4	1055	-	Acute lymphoblastic leukemia(192;0.000127)		281					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.843A>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787132	0.70337	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.53640	0.61;0.61	5.61	1.97	0.26223	.	0.052413	0.85682	D	0.000000	T	0.46580	0.1400	M	0.63428	1.95	0.58432	D	0.999997	B	0.33135	0.399	B	0.42593	0.392	T	0.39981	-0.9587	10	0.87932	D	0	-3.6144	3.9124	0.09209	0.1476:0.2419:0.0:0.6105	.	281	O75487	GPC4_HUMAN	H	281;275;211	ENSP00000359864:Q281H;ENSP00000444959:Q211H	ENSP00000359864:Q281H	Q	-	3	2	GPC4	132272986	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.633000	0.24598	0.006000	0.14734	0.486000	0.48141	CAA		0.453	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		45	3	0	0	0	0.00361	0	45	3				
SAGE1	55511	broad.mit.edu	37	X	134983781	134983781	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:134983781A>T	ENST00000370709.3	+	2	151	c.151A>T	c.(151-153)Aga>Tga	p.R51*	SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R51*|SAGE1_ENST00000535938.1_Nonsense_Mutation_p.R51*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.R51*			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	51						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAAACATTCCAGAAAATCCAA	0.408																																							uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(151-153)AGA>TGA		sarcoma antigen 1							182.0	170.0	174.0					X																	134983781		2203	4300	6503	SO:0001587	stop_gained	55511							g.chrX:134983781A>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.151A>T	X.37:g.134983781A>T	ENSP00000359743:p.Arg51*					SAGE1_uc010nry.1_Nonsense_Mutation_p.R51*|SAGE1_uc011mvv.1_Nonsense_Mutation_p.R51*	p.R51*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			3	318	+	Acute lymphoblastic leukemia(192;0.000127)		51					Q5JNW0	Nonsense_Mutation	SNP	ENST00000370709.3	37	c.151A>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.011060	0.35511	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	.	.	.	1.56	-0.618	0.11576	.	0.123640	0.52532	U	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	4.0976	0.09998	0.4698:0.0:0.5302:0.0	.	.	.	.	X	51	.	ENSP00000323191:R51X	R	+	1	2	SAGE1	134811447	0.000000	0.05858	0.014000	0.15608	0.102000	0.19082	-1.105000	0.03323	-0.264000	0.09365	0.151000	0.16131	AGA		0.408	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		77	14	0	0	0	0.00361	0	77	14				
SAGE1	55511	broad.mit.edu	37	X	134990679	134990679	+	Silent	SNP	T	T	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:134990679T>C	ENST00000370709.3	+	11	1344	c.1344T>C	c.(1342-1344)aaT>aaC	p.N448N	SAGE1_ENST00000324447.3_Silent_p.N448N|SAGE1_ENST00000535938.1_Silent_p.N448N|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	448						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGATGGAAAATGGCCAACGAA	0.433																																							uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(1342-1344)AAT>AAC		sarcoma antigen 1							187.0	163.0	171.0					X																	134990679		2203	4299	6502	SO:0001819	synonymous_variant	55511							g.chrX:134990679T>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1344T>C	X.37:g.134990679T>C						SAGE1_uc010nry.1_Silent_p.N417N|SAGE1_uc011mvv.1_Intron	p.N448N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			12	1511	+	Acute lymphoblastic leukemia(192;0.000127)		448					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.1344T>C	CCDS14652.1																																																																																				0.433	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		34	7	0	0	0	0.002836	0	34	7				
GPR112	139378	broad.mit.edu	37	X	135427303	135427303	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:135427303G>T	ENST00000394143.1	+	6	1729	c.1438G>T	c.(1438-1440)Gta>Tta	p.V480L	GPR112_ENST00000412101.1_Missense_Mutation_p.V275L|GPR112_ENST00000394141.1_Missense_Mutation_p.V275L|GPR112_ENST00000287534.4_Missense_Mutation_p.V417L|GPR112_ENST00000370652.1_Missense_Mutation_p.V480L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	480					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCTGCTCCAGTAGATTCTGT	0.443																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(1438-1440)GTA>TTA		G-protein coupled receptor 112							94.0	81.0	86.0					X																	135427303		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427303G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1438G>T	X.37:g.135427303G>T	ENSP00000377699:p.Val480Leu					GPR112_uc010nsb.1_Missense_Mutation_p.V275L|GPR112_uc010nsc.1_Missense_Mutation_p.V247L	p.V480L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	1729	+	Acute lymphoblastic leukemia(192;0.000127)		480			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.1438G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	6.089	0.384617	0.11524	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.38887	1.14;1.14;1.11;1.22;1.11	3.62	1.78	0.24846	.	.	.	.	.	T	0.25680	0.0625	L	0.27053	0.805	0.09310	N	1	B;B;B	0.33807	0.426;0.206;0.243	B;B;B	0.28385	0.089;0.053;0.032	T	0.13710	-1.0499	9	0.62326	D	0.03	.	5.987	0.19440	0.2772:0.0:0.7228:0.0	.	417;275;480	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	480;480;275;417;275	ENSP00000377699:V480L;ENSP00000359686:V480L;ENSP00000416526:V275L;ENSP00000287534:V417L;ENSP00000377697:V275L	ENSP00000287534:V417L	V	+	1	0	GPR112	135254969	0.000000	0.05858	0.003000	0.11579	0.275000	0.26752	0.374000	0.20501	0.171000	0.19730	0.411000	0.27672	GTA		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			35	4	1	0	3.66082e-28	0.005524	6.00511e-28	35	4				
VGLL1	51442	broad.mit.edu	37	X	135618368	135618368	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:135618368G>T	ENST00000370634.3	+	2	359	c.189G>T	c.(187-189)caG>caT	p.Q63H		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCTCGAGTCAGAGTGAAGGTG	0.527																																							uc004ezy.2		NA																	0					0						c.(187-189)CAG>CAT		vestigial like 1							77.0	69.0	72.0					X																	135618368		2203	4300	6503	SO:0001583	missense	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135618368G>T	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.189G>T	X.37:g.135618368G>T	ENSP00000359668:p.Gln63His						p.Q63H	NM_016267	NP_057351	Q99990	VGLL1_HUMAN			2	359	+	Acute lymphoblastic leukemia(192;0.000127)		63					Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	c.189G>T	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.637|5.637	0.302241|0.302241	0.10678|0.10678	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000440515|ENST00000370634;ENST00000430688;ENST00000456412	.|T;T	.|0.57273	.|0.91;0.41	4.49|4.49	1.4|1.4	0.22301|0.22301	.|.	.|0.386193	.|0.23055	.|N	.|0.052444	.|T	.|0.29389	.|0.0732	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.08055	.|0.003	.|T	.|0.13072	.|-1.0523	.|10	.|0.28530	.|T	.|0.3	-0.5273|-0.5273	6.7333|6.7333	0.23395|0.23395	0.1645:0.4067:0.4288:0.0|0.1645:0.4067:0.4288:0.0	.|.	.|63	.|Q99990	.|VGLL1_HUMAN	X|H	28|63;60;5	.|ENSP00000359668:Q63H;ENSP00000388868:Q5H	.|ENSP00000359668:Q63H	E|Q	+|+	1|3	0|2	VGLL1|VGLL1	135446034|135446034	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.055000|0.055000	0.15305|0.15305	0.512000|0.512000	0.22755|0.22755	0.176000|0.176000	0.19873|0.19873	0.600000|0.600000	0.82982|0.82982	GAG|CAG		0.527	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		30	7	1	0	1.13719e-10	0.008361	1.39995e-10	30	7				
SOX3	6658	broad.mit.edu	37	X	139586651	139586651	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:139586651G>T	ENST00000370536.2	-	1	574	c.575C>A	c.(574-576)gCc>gAc	p.A192D		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	192					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					AAGTCGCTTGGCCTCGTCGAT	0.572																																							uc004fbd.1		NA																	0				pancreas(1)	1						c.(574-576)GCC>GAC		SRY (sex determining region Y)-box 3							75.0	67.0	70.0					X																	139586651		2203	4300	6503	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586651G>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.575C>A	X.37:g.139586651G>T	ENSP00000359567:p.Ala192Asp						p.A192D	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	575	-	Acute lymphoblastic leukemia(192;7.65e-05)		192			HMG box.		P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.575C>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.425424	0.83667	.	.	ENSG00000134595	ENST00000370536	D	0.99563	-6.17	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.058939	0.64402	U	0.000003	D	0.99829	0.9923	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96436	0.9323	9	.	.	.	.	14.717	0.69277	0.0:0.0:1.0:0.0	.	192	P41225	SOX3_HUMAN	D	192	ENSP00000359567:A192D	.	A	-	2	0	SOX3	139414317	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	9.111000	0.94308	1.638000	0.50547	0.525000	0.51046	GCC		0.572	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			24	5	1	0	2.39556e-15	0.00278	3.23761e-15	24	5				
SLITRK4	139065	broad.mit.edu	37	X	142716747	142716747	+	Missense_Mutation	SNP	G	G	T	rs199684349		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:142716747G>T	ENST00000381779.4	-	2	2403	c.2178C>A	c.(2176-2178)gaC>gaA	p.D726E	SLITRK4_ENST00000356928.1_Missense_Mutation_p.D726E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.D726E	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	726						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCTCCTTGTCGGCCACAT	0.418													G|||	1	0.000264901	0.0	0.0	3775	,	,		13962	0.0		0.0	False		,,,				2504	0.001						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(2176-2178)GAC>GAA		slit and trk like 4 protein precursor		G	GLU/ASP,GLU/ASP,GLU/ASP	0,3835		0,0,0,1632,571	88.0	88.0	88.0		2178,2178,2178	2.4	1.0	X		88	1,6727		0,0,1,2428,1871	yes	missense,missense,missense	SLITRK4	NM_173078.3,NM_001184750.1,NM_001184749.1	45,45,45	0,0,1,4060,2442	TT,TG,T,GG,G		0.0149,0.0,0.0095	benign,benign,benign	726/838,726/838,726/838	142716747	1,10562	2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716747G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2178C>A	X.37:g.142716747G>T	ENSP00000371198:p.Asp726Glu					SLITRK4_uc004fby.2_Missense_Mutation_p.D726E	p.D726E	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2554	-	Acute lymphoblastic leukemia(192;6.56e-05)		726			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2178C>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.349530	0.01266	0.0	1.49E-4	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.42513	0.97;0.97;0.97	5.49	2.42	0.29668	.	0.137196	0.47093	U	0.000244	T	0.14960	0.0361	N	0.03115	-0.41	0.43617	D	0.995996	B	0.02656	0.0	B	0.01281	0.0	T	0.22695	-1.0209	10	0.02654	T	1	-5.3642	8.1575	0.31178	0.0:0.363:0.4265:0.2104	.	726	Q8IW52	SLIK4_HUMAN	E	726	ENSP00000371198:D726E;ENSP00000349400:D726E;ENSP00000336627:D726E	ENSP00000336627:D726E	D	-	3	2	SLITRK4	142544413	1.000000	0.71417	0.992000	0.48379	0.736000	0.42039	0.847000	0.27696	0.495000	0.27882	0.600000	0.82982	GAC		0.418	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		37	17	1	0	3.93418e-24	0.004289	6.1609e-24	37	17				
SLITRK2	84631	broad.mit.edu	37	X	144905527	144905527	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:144905527G>T	ENST00000370490.1	+	1	5839	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SLITRK2_ENST00000447897.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E528D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	528					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E528D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGCAGGAGAACCCCTGGG	0.507																																							uc004fcd.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1582-1584)GAG>GAT		SLIT and NTRK-like family, member 2 precursor							71.0	69.0	70.0					X																	144905527		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905527G>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1584G>T	X.37:g.144905527G>T	ENSP00000359521:p.Glu528Asp					SLITRK2_uc010nsp.2_Missense_Mutation_p.E528D|SLITRK2_uc010nso.2_Missense_Mutation_p.E528D|SLITRK2_uc011mwq.1_Missense_Mutation_p.E528D|SLITRK2_uc011mwr.1_Missense_Mutation_p.E528D|SLITRK2_uc011mws.1_Missense_Mutation_p.E528D|SLITRK2_uc004fcg.2_Missense_Mutation_p.E528D|SLITRK2_uc011mwt.1_Missense_Mutation_p.E528D	p.E528D	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2574	+	Acute lymphoblastic leukemia(192;6.56e-05)		528			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1584G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295398	0.23564	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.84	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.20881	0.62	0.50313	D	0.999869	B	0.29115	0.233	B	0.29862	0.108	T	0.09100	-1.0690	10	0.07030	T	0.85	-10.0251	8.1365	0.31058	0.1527:0.0:0.8473:0.0	.	528	Q9H156	SLIK2_HUMAN	D	528	ENSP00000334374:E528D;ENSP00000411681:E528D;ENSP00000359521:E528D;ENSP00000397015:E528D;ENSP00000407347:E528D;ENSP00000412010:E528D	ENSP00000334374:E528D	E	+	3	2	SLITRK2	144713219	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.144000	0.50616	2.448000	0.82819	0.600000	0.82982	GAG		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		27	5	1	0	1.2476e-16	0.00632	1.72347e-16	27	5				
MAGEA11	4110	broad.mit.edu	37	X	148797834	148797834	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:148797834G>C	ENST00000355220.5	+	5	790	c.688G>C	c.(688-690)Gtt>Ctt	p.V230L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.V201L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AATTGATTTGGTTCATTTATT	0.453																																							uc004fdq.2		NA																	0				ovary(2)	2						c.(688-690)GTT>CTT		melanoma antigen family A, 11 isoform a							117.0	117.0	117.0					X																	148797834		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797834G>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.688G>C	X.37:g.148797834G>C	ENSP00000347358:p.Val230Leu					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.V201L	p.V230L	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	790	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		230			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.688G>C	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	11.35	1.612763	0.28712	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.12672	2.66;2.66;2.66	0.976	0.0428	0.14219	.	.	.	.	.	T	0.18635	0.0447	M	0.76574	2.34	0.09310	N	1	P;P	0.44521	0.805;0.837	B;P	0.46685	0.389;0.524	T	0.13602	-1.0503	9	0.56958	D	0.05	.	3.205	0.06662	0.3286:0.0:0.6714:0.0	.	201;230	G5E962;P43364	.;MAGAB_HUMAN	L	201;201;230	ENSP00000391496:V201L;ENSP00000328177:V201L;ENSP00000347358:V230L	ENSP00000328177:V201L	V	+	1	0	MAGEA11	148576571	0.001000	0.12720	0.001000	0.08648	0.059000	0.15707	0.026000	0.13599	-0.054000	0.13266	0.429000	0.28392	GTT		0.453	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		39	12	0	0	0	0.007835	0	39	12				
MAGEA10	4109	broad.mit.edu	37	X	151303310	151303310	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:151303310G>C	ENST00000370323.4	-	4	1099	c.783C>G	c.(781-783)caC>caG	p.H261Q	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.H261Q	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.H261Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAATGAGGTGCTCCATCC	0.532																																							uc004ffk.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|kidney(1)		0						c.(781-783)CAC>CAG		melanoma antigen family A, 10							85.0	80.0	82.0					X																	151303310		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303310G>C		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.783C>G	X.37:g.151303310G>C	ENSP00000359347:p.His261Gln					MAGEA10_uc004ffl.2_Missense_Mutation_p.H261Q	p.H261Q	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	1191	-	Acute lymphoblastic leukemia(192;6.56e-05)		261			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.783C>G	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837727	0.50951	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05513	3.43;3.43	2.6	-0.415	0.12355	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	H	0.95328	3.655	0.09310	N	1	D	0.64830	0.994	P	0.58520	0.84	T	0.07770	-1.0755	10	0.87932	D	0	.	5.3759	0.16164	0.4739:0.0:0.5261:0.0	.	261	P43363	MAGAA_HUMAN	Q	261	ENSP00000359347:H261Q;ENSP00000244096:H261Q	ENSP00000244096:H261Q	H	-	3	2	MAGEA10	151053966	0.005000	0.15991	0.000000	0.03702	0.547000	0.35210	-0.324000	0.07986	-0.235000	0.09767	0.292000	0.19580	CAC		0.532	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		34	14	0	0	0	0.002836	0	34	14				
GABRQ	55879	broad.mit.edu	37	X	151821301	151821301	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:151821301G>T	ENST00000370306.2	+	9	1476	c.1456G>T	c.(1456-1458)Gtc>Ttc	p.V486F		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	486					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGCAACCGTGTCGAAGCCCA	0.552																																							uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1456-1458)GTC>TTC		gamma-aminobutyric acid (GABA) receptor, theta							121.0	105.0	110.0					X																	151821301		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821301G>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1456G>T	X.37:g.151821301G>T	ENSP00000359329:p.Val486Phe						p.V486F	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1476	+	Acute lymphoblastic leukemia(192;6.56e-05)		486					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1456G>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568523	0.28003	.	.	ENSG00000147402	ENST00000370306	T	0.79247	-1.25	4.47	1.56	0.23342	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.741290	0.02962	N	0.143225	T	0.60470	0.2271	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52457	-0.8573	10	0.87932	D	0	.	4.3071	0.10953	0.1143:0.0:0.4706:0.4152	.	486	Q9UN88	GBRT_HUMAN	F	486	ENSP00000359329:V486F	ENSP00000359329:V486F	V	+	1	0	GABRQ	151571957	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.342000	0.07801	0.174000	0.19809	0.600000	0.82982	GTC		0.552	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		52	14	1	0	2.12129e-23	0.00361	3.28468e-23	52	14				
ZNF275	10838	broad.mit.edu	37	X	152612393	152612393	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:152612393G>C	ENST00000421401.3	+	4	427	c.250G>C	c.(250-252)Gac>Cac	p.D84H	ZNF275_ENST00000370249.2_Missense_Mutation_p.D31H|ZNF275_ENST00000370251.3_Missense_Mutation_p.D84H|ZNF275_ENST00000440091.1_Missense_Mutation_p.D114H			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCACGGGGACTCTGACGG	0.552																																							uc004fhg.1		NA																	0				ovary(1)	1						c.(250-252)GAC>CAC		SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;							68.0	71.0	70.0					X																	152612393		2013	4150	6163	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612393G>C	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.250G>C	X.37:g.152612393G>C	ENSP00000398977:p.Asp84His					ZNF275_uc011mym.1_Missense_Mutation_p.D84H|ZNF275_uc011myn.1_Missense_Mutation_p.D21H	p.D84H			A6NFS0	A6NFS0_HUMAN			4	427	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		84					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.250G>C		.	.	.	.	.	.	.	.	.	.	G	5.772	0.326832	0.10900	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.08896	3.09;3.13;3.04;3.12	4.04	3.17	0.36434	.	0.335413	0.21429	N	0.074681	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	P;P	0.49635	0.926;0.926	B;P	0.46718	0.401;0.525	T	0.23476	-1.0187	10	0.44086	T	0.13	-27.8142	5.6371	0.17542	0.2452:0.0:0.7548:0.0	.	84;84	Q9NSD4;A6NFS0	ZN275_HUMAN;.	H	84;84;114;31	ENSP00000359271:D84H;ENSP00000398977:D84H;ENSP00000411097:D114H;ENSP00000359269:D31H	ENSP00000359269:D31H	D	+	1	0	ZNF275	152265587	0.237000	0.23815	0.007000	0.13788	0.007000	0.05969	0.818000	0.27295	1.069000	0.40788	0.513000	0.50165	GAC		0.552	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		16	2	0	0	0	0.004007	0	16	2				
ATP2B3	492	broad.mit.edu	37	X	152814969	152814969	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:152814969C>A	ENST00000349466.2	+	10	1679	c.1353C>A	c.(1351-1353)gaC>gaA	p.D451E	ATP2B3_ENST00000370186.1_Missense_Mutation_p.D437E|ATP2B3_ENST00000370181.2_Missense_Mutation_p.D437E|ATP2B3_ENST00000393842.1_Missense_Mutation_p.D437E|ATP2B3_ENST00000263519.4_Missense_Mutation_p.D451E|ATP2B3_ENST00000359149.3_Missense_Mutation_p.D451E			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	451					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATGAAAGACAACAACCTGG	0.577																																							uc004fht.1		NA																	0				pancreas(1)	1						c.(1351-1353)GAC>GAA		plasma membrane calcium ATPase 3 isoform 3b							175.0	142.0	153.0					X																	152814969		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152814969C>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1353C>A	X.37:g.152814969C>A	ENSP00000343886:p.Asp451Glu					ATP2B3_uc004fhs.1_Missense_Mutation_p.D451E	p.D451E	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			9	1479	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		451			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1353C>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	c	14.72	2.619698	0.46736	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	4.63	2.46	0.29980	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	L	0.47016	1.485	0.41129	D	0.985875	B;P	0.38048	0.137;0.616	P;B	0.45506	0.483;0.351	D	0.84991	0.0894	10	0.59425	D	0.04	-36.4421	6.2201	0.20677	0.0:0.6108:0.0:0.3892	.	451;451	Q16720;Q16720-2	AT2B3_HUMAN;.	E	437;451;437;451;451;437	ENSP00000359205:D437E;ENSP00000343886:D451E;ENSP00000377425:D437E;ENSP00000352062:D451E;ENSP00000263519:D451E;ENSP00000359200:D437E	ENSP00000263519:D451E	D	+	3	2	ATP2B3	152468163	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	0.503000	0.22610	0.748000	0.32831	0.522000	0.50473	GAC		0.577	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		41	16	1	0	5.44703e-19	0.009718	7.88514e-19	41	16				
FLNA	2316	broad.mit.edu	37	X	153593005	153593005	+	Silent	SNP	C	C	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:153593005C>A	ENST00000369850.3	-	13	2147	c.1911G>T	c.(1909-1911)ccG>ccT	p.P637P	FLNA_ENST00000360319.4_Silent_p.P637P|FLNA_ENST00000422373.1_Silent_p.P637P|FLNA_ENST00000344736.4_Silent_p.P637P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	637			P -> Q (in CVDX). {ECO:0000269|PubMed:17190868}.		actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCTCCTGCGGCCAGTAGC	0.617																																							uc004fkk.2		NA																	0				breast(6)	6						c.(1909-1911)CCG>CCT		filamin A, alpha isoform 2							58.0	65.0	63.0					X																	153593005		2162	4242	6404	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593005C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1911G>T	X.37:g.153593005C>A						FLNA_uc010nuu.1_Silent_p.P637P	p.P637P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			13	2160	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		637		P -> Q (in CVDX).	Filamin 4.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.1911G>T	CCDS48194.1																																																																																				0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			39	10	1	0	2.75727e-19	0.004878	4.01246e-19	39	10				
PLXNA3	55558	broad.mit.edu	37	X	153698332	153698332	+	Missense_Mutation	SNP	G	G	T	rs142245785	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:153698332G>T	ENST00000369682.3	+	29	4983	c.4808G>T	c.(4807-4809)cGc>cTc	p.R1603L	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1603					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTTGCTCCGCACGGCCAGC	0.622																																							uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(4807-4809)CGC>CTC		plexin A3 precursor							67.0	57.0	61.0					X																	153698332		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698332G>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4808G>T	X.37:g.153698332G>T	ENSP00000358696:p.Arg1603Leu						p.R1603L	NM_017514	NP_059984	P51805	PLXA3_HUMAN			29	4981	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1603			Cytoplasmic (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4808G>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311552	0.81358	.	.	ENSG00000130827	ENST00000369682	T	0.01034	5.42	4.5	4.5	0.54988	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.03220	0.0094	L	0.54323	1.7	0.52099	D	0.999942	D	0.76494	0.999	D	0.70227	0.968	T	0.67696	-0.5604	10	0.11485	T	0.65	.	15.1244	0.72472	0.0:0.0:1.0:0.0	.	1603	P51805	PLXA3_HUMAN	L	1603	ENSP00000358696:R1603L	ENSP00000358696:R1603L	R	+	2	0	PLXNA3	153351526	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	9.603000	0.98315	2.072000	0.62099	0.529000	0.55759	CGC		0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		28	3	1	0	7.76418e-22	0.005443	1.18236e-21	28	3				
G6PD	2539	broad.mit.edu	37	X	153762266	153762266	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:153762266C>G	ENST00000393564.2	-	7	866	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	G6PD_ENST00000369620.2_Missense_Mutation_p.E252Q|G6PD_ENST00000393562.2_Missense_Mutation_p.E282Q|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	252					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCCCAAATTCATCGAAATAG	0.592																																							uc004fly.1		NA																	0				ovary(4)	4						c.(754-756)GAA>CAA		glucose-6-phosphate dehydrogenase isoform b							90.0	79.0	83.0					X																	153762266		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153762266C>G	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.754G>C	X.37:g.153762266C>G	ENSP00000377194:p.Glu252Gln					G6PD_uc004flx.1_Missense_Mutation_p.E282Q	p.E252Q	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			7	867	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		252					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.754G>C	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172866	0.38413	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.67	5.67	0.87782	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.051025	0.85682	D	0.000000	D	0.99001	0.9659	L	0.31294	0.92	0.52501	D	0.999958	B;B	0.21821	0.031;0.061	B;B	0.25405	0.06;0.058	D	0.99962	1.1745	10	0.33141	T	0.24	.	15.9801	0.80102	0.0:1.0:0.0:0.0	.	252;282	P11413;P11413-3	G6PD_HUMAN;.	Q	282;252;252;252;253;253;252	ENSP00000377192:E282Q;ENSP00000377194:E252Q;ENSP00000358633:E252Q;ENSP00000395599:E253Q;ENSP00000400648:E253Q;ENSP00000394690:E252Q	ENSP00000291567:E252Q	E	-	1	0	G6PD	153415460	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	3.485000	0.53208	2.374000	0.81015	0.422000	0.28245	GAA		0.592	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		33	11	0	0	0	0.003271	0	33	11				
F8	2157	broad.mit.edu	37	X	154157366	154157366	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:154157366T>A	ENST00000360256.4	-	14	4899	c.4699A>T	c.(4699-4701)Aga>Tga	p.R1567*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1567	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTGCTACTCTCAGAAAGGGA	0.478																																							uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4699-4701)AGA>TGA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						148.0	146.0	147.0					X																	154157366		2203	4299	6502	SO:0001587	stop_gained	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157366T>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4699A>T	X.37:g.154157366T>A	ENSP00000353393:p.Arg1567*						p.R1567*	NM_000132	NP_000123	P00451	FA8_HUMAN			14	4870	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1567			B.		Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.4699A>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	42	9.424725	0.99167	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.32	4.17	0.49024	.	0.420487	0.22866	N	0.054695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-8.3377	6.2669	0.20932	0.0:0.1107:0.0:0.8893	.	.	.	.	X	1567	.	ENSP00000353393:R1567X	R	-	1	2	F8	153810560	0.002000	0.14202	0.029000	0.17559	0.004000	0.04260	0.516000	0.22817	1.790000	0.52503	0.438000	0.28831	AGA		0.478	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			79	27	0	0	0	0.00361	0	79	27				
ATAD3B	83858	broad.mit.edu	37	1	1430994	1430995	+	Frame_Shift_Del	DEL	GA	GA	-	rs373709131		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:1430994_1430995delGA	ENST00000308647.7	+	16	1860_1861	c.1744_1745delGA	c.(1744-1746)gagfs	p.E582fs		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	582						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGCGGGGTCGAGCACCCCCTA	0.649																																							uc001afv.2		NA																	0					0						c.(1744-1746)GAGfs		AAA-ATPase  TOB3																																				SO:0001589	frameshift_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1430994_1430995delGA	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1744_1745delGA	1.37:g.1430994_1430995delGA	ENSP00000311766:p.Glu582fs					ATAD3B_uc001afx.2_Frame_Shift_Del_p.E536fs|ATAD3B_uc001afy.2_Frame_Shift_Del_p.E135fs	p.E582fs	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	16	1845_1846	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	582					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Frame_Shift_Del	DEL	ENST00000308647.7	37	c.1744_1745delGA	CCDS30.1																																																																																				0.649	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		29	79	NA	NA	NA	NA	NA	29	79	---	---	---	---
CFAP74	85452	broad.mit.edu	37	1	1900161	1900161	+	IGR	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:1900161delC								TMEM52 (49449 upstream) : C1orf222 (19401 downstream)																							TCAGCCGGTGCCTGGCACTGG	0.527																																							uc001aim.1		NA																	0				pancreas(1)	1						c.(1156-1158)AGGfs		hypothetical protein LOC85452							180.0	190.0	186.0					1																	1900161		2035	4194	6229	SO:0001628	intergenic_variant	85452							g.chr1:1900161delC																													1.37:g.1900161delC						KIAA1751_uc009vkz.1_Frame_Shift_Del_p.R386fs	p.R386fs	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	11	1314	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	386						Frame_Shift_Del	DEL		37	c.1158delG																																																																																				0	0.527									284	95	NA	NA	NA	NA	NA	284	95	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55567332	55567332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:55567332delC	ENST00000294383.6	-	43	5069	c.5070delG	c.(5068-5070)gggfs	p.G1690fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.G1530fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1690	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATTTCTCAGCCCCACAAACC	0.463																																							uc001cyg.3		NA																	0				ovary(6)|kidney(6)|breast(1)	13						c.(4588-4590)GGGfs		ubiquitin specific protease 24							62.0	61.0	62.0					1																	55567332		1973	4156	6129	SO:0001589	frameshift_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55567332delC	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5070delG	1.37:g.55567332delC	ENSP00000294383:p.Gly1690fs						p.G1530fs	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			40	4590	-			1690					Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	ENST00000294383.6	37	c.4590delG	CCDS44154.2																																																																																				0.463	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	32	NA	NA	NA	NA	NA	8	32	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70493969	70493970	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:70493969_70493970insAA	ENST00000035383.5	+	16	1826_1827	c.1796_1797insAA	c.(1795-1800)tcaaatfs	p.N600fs	LRRC7_ENST00000310961.5_Frame_Shift_Ins_p.N605fs|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	600						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTTGAGAATTCAAATCCAACTG	0.406																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1795-1797)TCAfs		leucine rich repeat containing 7																																				SO:0001589	frameshift_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70493969_70493970insAA		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1797_1798dupAA	1.37:g.70493970_70493971dupAA	ENSP00000035383:p.Asn600fs					LRRC7_uc009wbg.2_Intron	p.S599fs	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			16	1826_1827	+			599					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Frame_Shift_Ins	INS	ENST00000035383.5	37	c.1796_1797insAA	CCDS645.1																																																																																				0.406	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	23	NA	NA	NA	NA	NA	31	23	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86904751	86904751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:86904751delG	ENST00000370565.4	+	7	1327	c.1165delG	c.(1165-1167)gacfs	p.D389fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	389	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGCTAAAACAGACATCAGCAT	0.428																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1165-1167)GACfs		chloride channel accessory 2 precursor							120.0	105.0	110.0					1																	86904751		2203	4300	6503	SO:0001589	frameshift_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86904751delG		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1165delG	1.37:g.86904751delG	ENSP00000359596:p.Asp389fs						p.D389fs	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	7	1327	+		Lung NSC(277;0.238)	389			VWFA.|Extracellular (Potential).		A8K2T3|Q9Y6N2	Frame_Shift_Del	DEL	ENST00000370565.4	37	c.1165delG	CCDS708.1																																																																																				0.428	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		11	41	NA	NA	NA	NA	NA	11	41	---	---	---	---
HENMT1	113802	broad.mit.edu	37	1	109197453	109197453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:109197453delG	ENST00000370032.5	-	5	703	c.283delC	c.(283-285)ctgfs	p.L95fs	HENMT1_ENST00000402983.1_Frame_Shift_Del_p.L95fs|HENMT1_ENST00000370031.1_Frame_Shift_Del_p.L95fs|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	95					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AAATCCCCCAGGAAAGGAGCT	0.398																																							uc001dvt.3		NA																	0					0						c.(283-285)CTGfs		hypothetical protein LOC113802							71.0	66.0	68.0					1																	109197453		2203	4300	6503	SO:0001589	frameshift_variant	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109197453delG		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.283delC	1.37:g.109197453delG	ENSP00000359049:p.Leu95fs					C1orf59_uc001dvu.3_Frame_Shift_Del_p.L95fs|C1orf59_uc009wer.2_Frame_Shift_Del_p.L95fs	p.L95fs	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)	5	521	-		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	95					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Frame_Shift_Del	DEL	ENST00000370032.5	37	c.283delC	CCDS787.1																																																																																				0.398	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		11	14	NA	NA	NA	NA	NA	11	14	---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117626641	117626642	+	Splice_Site	DEL	CT	CT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:117626641_117626642delCT	ENST00000369466.4	+	11	1949_1950	c.1905_1906delCT	c.(1903-1908)gactct>gact	p.S636fs		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	636	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTTCTCAAGACTCTTGTGACTT	0.406																																							uc001egy.2		NA																	0				ovary(1)	1						c.(1903-1908)GACTCTfs		transcription termination factor, RNA polymerase																																				SO:0001630	splice_region_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117626641_117626642delCT	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1904-1CT>-	1.37:g.117626643_117626644delCT							p.D635fs	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	11	1925_1926	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	635_636			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Frame_Shift_Del	DEL	ENST00000369466.4	37	c.1905_1906delCT	CCDS892.1																																																																																				0.406	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		Frame_Shift_Del	23	34	NA	NA	NA	NA	NA	23	34	---	---	---	---
C1orf61	10485	broad.mit.edu	37	1	156384451	156384451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:156384451delG	ENST00000368243.1	-	4	282	c.166delC	c.(166-168)cggfs	p.R56fs		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	56						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					CTCACCGCCCGGGAGCTGTCC	0.562											OREG0006902	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=C1orf61|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																											uc001fou.1		NA																	0				skin(1)	1						c.(166-168)CGGfs		transcriptional activator of the c-fos promoter							33.0	32.0	32.0					1																	156384451		2203	4300	6503	SO:0001589	frameshift_variant	10485					nucleus		g.chr1:156384451delG		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.166delC	1.37:g.156384451delG	ENSP00000357226:p.Arg56fs		OREG0006902	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=C1orf61|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1778	C1orf61_uc001fov.1_RNA|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_RNA|C1orf61_uc001foy.1_RNA	p.R56fs	NM_006365	NP_006356	Q13536	CROC4_HUMAN			4	283	-	Hepatocellular(266;0.158)		56					B1ALL5|B1ALL8	Frame_Shift_Del	DEL	ENST00000368243.1	37	c.166delC	CCDS1142.1																																																																																				0.562	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365		21	23	NA	NA	NA	NA	NA	21	23	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159175850	159175850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:159175850delG	ENST00000368122.2	+	2	1300	c.621delG	c.(619-621)cagfs	p.Q207fs	DARC_ENST00000368121.2_Frame_Shift_Del_p.Q209fs|DARC_ENST00000537147.1_Frame_Shift_Del_p.Q207fs|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		207					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGGCTTTGCAGGCCACACACA	0.577																																							uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(619-621)CAGfs		Duffy blood group antigen isoform b							82.0	63.0	70.0					1																	159175850		2203	4300	6503	SO:0001589	frameshift_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175850delG																												ENST00000368122.2:c.621delG	1.37:g.159175850delG	ENSP00000357104:p.Gln207fs					DARC_uc001ftp.3_Frame_Shift_Del_p.Q209fs	p.Q207fs	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	861	+	all_hematologic(112;0.0429)		207			Extracellular (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Frame_Shift_Del	DEL	ENST00000368122.2	37	c.621delG	CCDS1183.1																																																																																				0.577	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			17	22	NA	NA	NA	NA	NA	17	22	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186062769	186062769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr1:186062769delT	ENST00000271588.4	+	66	10393	c.10164delT	c.(10162-10164)catfs	p.H3388fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.H3388fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3388	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTCCTCCCATATCCGGTTAC	0.433																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(10162-10164)CATfs		hemicentin 1 precursor							83.0	88.0	86.0					1																	186062769		2203	4300	6503	SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186062769delT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10164delT	1.37:g.186062769delT	ENSP00000271588:p.His3388fs						p.H3388fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			66	10393	+			3388			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	ENST00000271588.4	37	c.10164delT	CCDS30956.1																																																																																				0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		36	122	NA	NA	NA	NA	NA	36	122	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26825135	26825135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:26825135delG	ENST00000376236.4	+	10	1488	c.1033delG	c.(1033-1035)ggafs	p.G345fs		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGTACCCAAAGGAAAGACTAA	0.328																																							uc001iss.2		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(1033-1035)GGAfs		amyloid beta (A4) precursor protein-binding,							79.0	96.0	90.0					10																	26825135		2199	4297	6496	SO:0001589	frameshift_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825135delG	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1033delG	10.37:g.26825135delG	ENSP00000365411:p.Gly345fs					APBB1IP_uc009xks.1_Frame_Shift_Del_p.G345fs	p.G345fs	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			10	1354	+			345			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Frame_Shift_Del	DEL	ENST00000376236.4	37	c.1033delG	CCDS31167.1																																																																																				0.328	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		70	78	NA	NA	NA	NA	NA	70	78	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48388734	48388734	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:48388734delG	ENST00000224600.4	-	1	2257	c.2144delC	c.(2143-2145)ccafs	p.P718fs	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	718	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGGGGTGGTGGGGGTGCTTC	0.627																																							uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2143-2145)CCAfs		retinol-binding protein 3 precursor	Vitamin A(DB00162)						33.0	37.0	36.0					10																	48388734		2201	4299	6500	SO:0001589	frameshift_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388734delG	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2144delC	10.37:g.48388734delG	ENSP00000224600:p.Pro718fs						p.P715fs	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2258	-			715			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Frame_Shift_Del	DEL	ENST00000224600.4	37	c.2144delC	CCDS7218.1																																																																																				0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		11	57	NA	NA	NA	NA	NA	11	57	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:105727509_105727511delCTT	ENST00000369755.3	+	1	551_553	c.6_8delCTT	c.(4-9)tccttc>tcc	p.F4del	SLK_ENST00000335753.4_In_Frame_Del_p.F4del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	4					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483																																					NSCLC(111;540 1651 1927 4474 17706)	NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NA																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(4-9)TCCTTC>TCC		serine/threonine kinase 2																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727509_105727511delCTT		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.6_8delCTT	10.37:g.105727512_105727514delCTT	ENSP00000358770:p.Phe4del					SLK_uc001kxp.1_In_Frame_Del_p.F4del	p.F4del	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	40_42	+		Colorectal(252;0.178)	4					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.6_8delCTT	CCDS7553.1																																																																																				0.483	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		65	15	NA	NA	NA	NA	NA	65	15	---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115312947	115312948	+	Splice_Site	DEL	GG	GG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr10:115312947_115312948delGG	ENST00000351270.3	+	1	163_164	c.67_68delGG	c.(67-69)ggg>g	p.G23fs	HABP2_ENST00000542051.1_Intron|HABP2_ENST00000537906.1_5'UTR|HABP2_ENST00000541666.1_Splice_Site_p.G23fs	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	23					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GACAGCCTGTGGGGTAAGTGTT	0.441																																							uc001lai.3		NA																	0				ovary(2)|skin(1)	3						c.(67-69)GGGfs		hyaluronan binding protein 2 preproprotein																																				SO:0001630	splice_region_variant	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115312947_115312948delGG		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.69+1GG>-	10.37:g.115312949_115312950delGG						HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_5'UTR	p.G23fs	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	1	170_171	+		Colorectal(252;0.0233)|Breast(234;0.0672)	23					A8K467|B7Z8U5|F5H5M6|O00663	Frame_Shift_Del	DEL	ENST00000351270.3	37	c.67_68delGG	CCDS7577.1																																																																																				0.441	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	Frame_Shift_Del	34	18	NA	NA	NA	NA	NA	34	18	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56113743	56113743	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:56113743delC	ENST00000279783.2	+	1	323	c.229delC	c.(229-231)cttfs	p.L77fs		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AATCACTGATCTTGGTTACTC	0.418										HNSCC(65;0.19)																													uc010rjg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(229-231)CTTfs		olfactory receptor, family 8, subfamily K,							174.0	161.0	165.0					11																	56113743		2201	4296	6497	SO:0001589	frameshift_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113743delC	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.229delC	11.37:g.56113743delC	ENSP00000279783:p.Leu77fs	HNSCC(65;0.19)					p.L77fs	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	229	+	Esophageal squamous(21;0.00448)		77			Helical; Name=2; (Potential).		B9EJB1|Q6IFC3|Q96RC1	Frame_Shift_Del	DEL	ENST00000279783.2	37	c.229delC	CCDS31528.1																																																																																				0.418	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		34	92	NA	NA	NA	NA	NA	34	92	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65308712	65308713	+	Frame_Shift_Del	DEL	TG	TG	-	rs199511147		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:65308712_65308713delTG	ENST00000301873.5	-	20	3045_3046	c.2777_2778delCA	c.(2776-2778)acafs	p.T926fs	LTBP3_ENST00000536982.1_Frame_Shift_Del_p.T552fs|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.T926fs|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.T356fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	926	TB 3.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCAGAACACTGTGTCATCGAA	0.634											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001oej.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(2776-2778)ACAfs		latent transforming growth factor beta binding																																				SO:0001589	frameshift_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65308712_65308713delTG	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2777_2778delCA	11.37:g.65308714_65308715delTG	ENSP00000301873:p.Thr926fs		OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_uc001oef.2_5'UTR|LTBP3_uc001oeg.2_5'UTR|LTBP3_uc001oeh.2_Frame_Shift_Del_p.T356fs|LTBP3_uc010roi.1_Frame_Shift_Del_p.T809fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.T926fs|LTBP3_uc010roj.1_Frame_Shift_Del_p.T627fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.T837fs	p.T926fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			20	3046_3047	-			926			TB 3.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Del	DEL	ENST00000301873.5	37	c.2777_2778delCA	CCDS44647.1																																																																																				0.634	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		26	86	NA	NA	NA	NA	NA	26	86	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66583618	66583619	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:66583618_66583619delTC	ENST00000360962.4	+	11	1291_1292	c.1284_1285delTC	c.(1282-1287)tttctcfs	p.L429fs	C11orf80_ENST00000346672.4_Frame_Shift_Del_p.L275fs|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.L211fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.L264fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.L274fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.L212fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	429										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TGCTGCTTTTTCTCTTTGTGGA	0.465																																							uc001ojf.2		NA																	0					0						c.(1282-1287)TTTCTCfs		hypothetical protein LOC79703																																				SO:0001589	frameshift_variant	79703							g.chr11:66583618_66583619delTC			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1284_1285delTC	11.37:g.66583620_66583621delTC	ENSP00000354227:p.Leu429fs					C11orf80_uc001ojg.2_Frame_Shift_Del_p.F195fs|C11orf80_uc001ojh.2_Frame_Shift_Del_p.F196fs|C11orf80_uc001oji.2_Frame_Shift_Del_p.F196fs|C11orf80_uc010rpl.1_Frame_Shift_Del_p.F63fs|C11orf80_uc001ojj.2_Frame_Shift_Del_p.F63fs	p.F428fs	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN			11	1291_1292	+			273_274					Q9H677	Frame_Shift_Del	DEL	ENST00000360962.4	37	c.1284_1285delTC	CCDS53664.1																																																																																				0.465	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		13	12	NA	NA	NA	NA	NA	13	12	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71717101	71717107	+	Frame_Shift_Del	DEL	ACCCCGG	ACCCCGG	-	rs61745941	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	ACCCCGG	ACCCCGG	-	-	ACCCCGG	ACCCCGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:71717101_71717107delACCCCGG	ENST00000393695.3	-	22	5997_6003	c.5666_5672delCCGGGGT	c.(5665-5673)gccggggtgfs	p.AGV1889fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.AGV1875fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.AGV753fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCACTGGACACCCCGGCCTGGGAACG	0.589			T	RARA	APL																																		uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5665-5673)GCCGGGGTGfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71717101_71717107delACCCCGG	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5666_5672delCCGGGGT	11.37:g.71717101_71717107delACCCCGG	ENSP00000377298:p.Ala1889fs					NUMA1_uc001orj.2_Frame_Shift_Del_p.A71fs|NUMA1_uc009ysw.1_Frame_Shift_Del_p.A1456fs|NUMA1_uc001ork.1_Frame_Shift_Del_p.A753fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.A1875fs	p.A1889fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			22	5838_5844	-			1889_1891						Frame_Shift_Del	DEL	ENST00000393695.3	37	c.5666_5672delCCGGGGT	CCDS31633.1																																																																																				0.589	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			45	68	NA	NA	NA	NA	NA	45	68	---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2		NA																	1	Deletion - In frame(1)		large_intestine(1)	ovary(1)	1						c.(676-678)AAGdel		HCF-binding transcription factor Zhangfei				5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	p.K226del	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			1	939_941	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226			Basic motif.		B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		45	163	NA	NA	NA	NA	NA	45	163	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113102898	113102899	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr11:113102898_113102899insA	ENST00000533760.1	+	10	1462_1463	c.863_864insA	c.(862-867)ccaaagfs	p.PK288fs	NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.PK406fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.PK415fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	416	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.P415Q(4)|p.P406Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGATGCCCCAAAGCTACAGG	0.525																																							uc009yyq.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(970-972)CCAfs		neural cell adhesion molecule 1 isoform 3																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102898_113102899insA		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.866dupA	11.37:g.113102901_113102901dupA	ENSP00000473281:p.Pro288fs						p.P324fs	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1665_1666	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	416			Ig-like C2-type 5.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.971_972insA																																																																																					0.525	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		18	12	NA	NA	NA	NA	NA	18	12	---	---	---	---
MIA2	117153	broad.mit.edu	37	14	39716860	39716860	+	Frame_Shift_Del	DEL	A	A	-	rs141053276		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr14:39716860delA	ENST00000280082.3	+	4	1281	c.1082delA	c.(1081-1083)gaafs	p.E361fs	MIA2_ENST00000556784.1_Frame_Shift_Del_p.E360fs|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Del_p.E361fs	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	361					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATATTAACAGAAAAAAAAGAC	0.348																																							uc001wux.2		NA																	0				ovary(1)|breast(1)	2						c.(1081-1083)GAAfs		melanoma inhibitory activity 2							61.0	57.0	58.0					14																	39716860		2203	4300	6503	SO:0001589	frameshift_variant	117153					extracellular region		g.chr14:39716860delA	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1082delA	14.37:g.39716860delA	ENSP00000280082:p.Glu361fs					MIA2_uc010amy.1_Frame_Shift_Del_p.E292fs	p.E361fs	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	1276	+	Hepatocellular(127;0.213)		361					A1L4H0|Q9H6C1	Frame_Shift_Del	DEL	ENST00000280082.3	37	c.1082delA	CCDS9672.1																																																																																				0.348	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		52	32	NA	NA	NA	NA	NA	52	32	---	---	---	---
SPPL2A	84888	broad.mit.edu	37	15	51040893	51040894	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:51040893_51040894delTG	ENST00000261854.5	-	3	625_626	c.351_352delCA	c.(349-354)aacagtfs	p.NS117fs	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	117	PA.				membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ACTAGGACACTGTTATTGACAA	0.371																																					Melanoma(50;790 1209 4069 22965 33125)	Melanoma(50;790 1209 4069 22965 33125)	uc001zyv.2		NA																	0					0						c.(349-354)AACAGTfs		signal peptide peptidase-like 2A																																				SO:0001589	frameshift_variant	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51040893_51040894delTG		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.351_352delCA	15.37:g.51040893_51040894delTG	ENSP00000261854:p.Asn117fs						p.N117fs	NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	3	531_532	-			117_118			Cytoplasmic (Potential).|PA.		B2RDS0|Q8TAW1|Q96SZ8	Frame_Shift_Del	DEL	ENST00000261854.5	37	c.351_352delCA	CCDS10138.1																																																																																				0.371	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		69	22	NA	NA	NA	NA	NA	69	22	---	---	---	---
USP3	9960	broad.mit.edu	37	15	63862705	63862705	+	Frame_Shift_Del	DEL	G	G	-	rs199612777		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:63862705delG	ENST00000380324.3	+	9	964	c.835delG	c.(835-837)ggtfs	p.G279fs	USP3_ENST00000559711.1_Frame_Shift_Del_p.G190fs|USP3_ENST00000558285.1_Frame_Shift_Del_p.G262fs|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000539772.1_Frame_Shift_Del_p.G30fs|USP3_ENST00000540797.1_Frame_Shift_Del_p.G235fs|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000268049.7_Frame_Shift_Del_p.G257fs|USP3-AS1_ENST00000560350.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	279	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ACTTCAGGGCGGTTTCAACGG	0.443																																							uc002amf.2		NA																	0				lung(1)	1						c.(835-837)GGTfs		ubiquitin thiolesterase 3							118.0	109.0	112.0					15																	63862705		2203	4300	6503	SO:0001589	frameshift_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63862705delG	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.835delG	15.37:g.63862705delG	ENSP00000369681:p.Gly279fs					USP3_uc010uii.1_RNA|USP3_uc002amg.2_Frame_Shift_Del_p.G194fs|USP3_uc002amh.2_Frame_Shift_Del_p.G257fs|USP3_uc010uij.1_Frame_Shift_Del_p.G235fs|USP3_uc010uik.1_Frame_Shift_Del_p.G30fs|USP3_uc010bgs.2_Frame_Shift_Del_p.G262fs|USP3_uc002ami.2_Frame_Shift_Del_p.G110fs	p.G279fs	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	9	964	+			279					B4DVU5|F5H1A6|Q8WVD0	Frame_Shift_Del	DEL	ENST00000380324.3	37	c.835delG	CCDS32265.1																																																																																				0.443	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			37	46	NA	NA	NA	NA	NA	37	46	---	---	---	---
IDH2	3418	broad.mit.edu	37	15	90631962	90631964	+	In_Frame_Del	DEL	TCT	TCT	-	rs529416664|rs529638451		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr15:90631962_90631964delTCT	ENST00000330062.3	-	4	502_504	c.389_391delAGA	c.(388-393)aagatg>atg	p.K130del	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Start_Codon_Del|IDH2_ENST00000540499.2_In_Frame_Del_p.K78del	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	130					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CTTTTCCACATCTTCTTCAGCTT	0.522			M		GBM																																		uc002box.2		NA		Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3)	711						c.(388-393)AAGATG>ATG		isocitrate dehydrogenase 2 (NADP+),																																				SO:0001651	inframe_deletion	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631962_90631964delTCT		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.389_391delAGA	15.37:g.90631965_90631967delTCT	ENSP00000331897:p.Lys130del					IDH2_uc010uqb.1_In_Frame_Del_p.K78del|IDH2_uc010uqc.1_Translation_Start_Site|IDH2_uc010bnu.2_Intron	p.K130del	NM_002168	NP_002159	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	475_477	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		130					B2R6L6|B4DFL2|Q96GT3	In_Frame_Del	DEL	ENST00000330062.3	37	c.389_391delAGA	CCDS10359.1																																																																																				0.522	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			15	56	NA	NA	NA	NA	NA	15	56	---	---	---	---
CLDN6	9074	broad.mit.edu	37	16	3065398	3065399	+	Frame_Shift_Del	DEL	GA	GA	-	rs535126754		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:3065398_3065399delGA	ENST00000396925.1	-	3	1052_1053	c.624_625delTC	c.(622-627)tctcggfs	p.R209fs	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Frame_Shift_Del_p.R209fs			P56747	CLD6_HUMAN	claudin 6	209					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGGGCCCCCGAGAGATGGCAG	0.644																																							uc002csu.3		NA																	0					0						c.(622-627)TCTCGGfs		claudin 6																																				SO:0001589	frameshift_variant	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065398_3065399delGA	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.624_625delTC	16.37:g.3065402_3065403delGA	ENSP00000380131:p.Arg209fs						p.S208fs	NM_021195	NP_067018	P56747	CLD6_HUMAN			2	684_685	-			208_209			Cytoplasmic (Potential).		B3KQP9|D3DUA5	Frame_Shift_Del	DEL	ENST00000396925.1	37	c.624_625delTC	CCDS10488.1																																																																																				0.644	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		24	81	NA	NA	NA	NA	NA	24	81	---	---	---	---
CCDC64B	146439	broad.mit.edu	37	16	3080710	3080711	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:3080710_3080711delCT	ENST00000572449.1	-	4	663_664	c.601_602delAG	c.(601-603)agtfs	p.S201fs	CCDC64B_ENST00000389347.4_Frame_Shift_Del_p.S201fs|RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000573514.1_5'UTR			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	201										breast(1)|endometrium(2)|large_intestine(1)	4						CCCCTGCAGACTCTCCAGCCGC	0.644																																							uc002ctf.3		NA																	0					0						c.(601-603)AGTfs		coiled-coil domain containing 64B																																				SO:0001589	frameshift_variant	146439							g.chr16:3080710_3080711delCT	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.601_602delAG	16.37:g.3080712_3080713delCT	ENSP00000459043:p.Ser201fs					CCDC64B_uc002cte.3_5'UTR|CCDC64B_uc010bta.1_3'UTR	p.S201fs	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN			3	646_647	-			201			Potential.		Q658L9	Frame_Shift_Del	DEL	ENST00000572449.1	37	c.601_602delAG	CCDS45393.1																																																																																				0.644	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			5	8	NA	NA	NA	NA	NA	5	8	---	---	---	---
COQ7	10229	broad.mit.edu	37	16	19079004	19079004	+	Frame_Shift_Del	DEL	G	G	-	rs368237702		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:19079004delG	ENST00000321998.5	+	1	84	c.18delG	c.(16-18)gcgfs	p.A9fs	COQ7_ENST00000569127.1_5'Flank|RP11-626G11.5_ENST00000571934.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA|RP11-626G11.1_ENST00000565802.1_lincRNA|COQ7_ENST00000568985.1_Frame_Shift_Del_p.A9fs|RP11-626G11.5_ENST00000568971.1_RNA|RP11-626G11.5_ENST00000567047.1_RNA|COQ7_ENST00000544894.2_5'Flank	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	9	Poly-Ala.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						gcgccggggcggcggcggctc	0.652																																							uc002dfr.2		NA																	0				skin(1)	1						c.(16-18)GCGfs		COQ7 protein							21.0	22.0	22.0					16																	19079004		2193	4292	6485	SO:0001589	frameshift_variant	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19079004delG	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.18delG	16.37:g.19079004delG	ENSP00000322316:p.Ala9fs					COQ7_uc002dfs.2_5'Flank	p.A6fs	NM_016138	NP_057222	Q99807	COQ7_HUMAN			1	78	+			6			Poly-Ala.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Frame_Shift_Del	DEL	ENST00000321998.5	37	c.18delG	CCDS10574.1																																																																																				0.652	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		8	12	NA	NA	NA	NA	NA	8	12	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65015995	65015995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:65015995delC	ENST00000268603.4	-	8	1824	c.1209delG	c.(1207-1209)gggfs	p.G403fs	CDH11_ENST00000566827.1_Frame_Shift_Del_p.G277fs|CDH11_ENST00000394156.3_Frame_Shift_Del_p.G403fs	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CATGCACTCTCCCAACCACGG	0.488			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1207-1209)GGGfs		cadherin 11, type 2 preproprotein							130.0	118.0	122.0					16																	65015995		2203	4300	6503	SO:0001589	frameshift_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65015995delC	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1209delG	16.37:g.65015995delC	ENSP00000268603:p.Gly403fs	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Frame_Shift_Del_p.G403fs|CDH11_uc010vin.1_Frame_Shift_Del_p.G277fs|CDH11_uc002eok.1_RNA	p.G403fs	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1643	-		Ovarian(137;0.0973)	403			Cadherin 4.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Frame_Shift_Del	DEL	ENST00000268603.4	37	c.1209delG	CCDS10803.1																																																																																				0.488	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		27	27	NA	NA	NA	NA	NA	27	27	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71319263	71319263	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr16:71319263delA	ENST00000338099.5	-	3	897	c.561delT	c.(559-561)attfs	p.I187fs	CMTR2_ENST00000434935.2_Frame_Shift_Del_p.I187fs			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	187	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										GGTCATCCATAATCATCATGA	0.428																																							uc010cga.2		NA																	0				skin(1)	1						c.(559-561)ATTfs		FtsJ methyltransferase domain containing 1							135.0	125.0	129.0					16																	71319263		2198	4300	6498	SO:0001589	frameshift_variant	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319263delA	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.561delT	16.37:g.71319263delA	ENSP00000337512:p.Ile187fs					FTSJD1_uc002ezy.3_Frame_Shift_Del_p.I187fs|FTSJD1_uc002ezz.3_Frame_Shift_Del_p.I187fs	p.I187fs	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	967	-			187					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Frame_Shift_Del	DEL	ENST00000338099.5	37	c.561delT	CCDS10898.1																																																																																				0.428	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		29	8	NA	NA	NA	NA	NA	29	8	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171564	68171564	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:68171564delC	ENST00000243457.3	+	2	767	c.384delC	c.(382-384)agcfs	p.S128fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.S128fs	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	128					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGGTCAACAGCTTCACGGCTG	0.502																																							uc010dfg.2		NA																	0					0						c.(382-384)AGCfs		potassium inwardly-rectifying channel J2							165.0	165.0	165.0					17																	68171564		2203	4300	6503	SO:0001589	frameshift_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171564delC	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.384delC	17.37:g.68171564delC	ENSP00000243457:p.Ser128fs					KCNJ2_uc002jir.2_Frame_Shift_Del_p.S128fs	p.S128fs	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	785	+	Breast(10;1.64e-08)		128			Extracellular (By similarity).		O15110|P48049	Frame_Shift_Del	DEL	ENST00000243457.3	37	c.384delC	CCDS11688.1																																																																																				0.502	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		60	76	NA	NA	NA	NA	NA	60	76	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71394500	71394510	+	Frame_Shift_Del	DEL	GCGGGCATCGG	GCGGGCATCGG	-	rs200483752|rs569887290|rs530002288	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GCGGGCATCGG	GCGGGCATCGG	-	-	GCGGGCATCGG	GCGGGCATCGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr17:71394500_71394510delGCGGGCATCGG	ENST00000392650.3	-	23	3152_3162	c.3152_3162delCCGATGCCCGC	c.(3151-3162)cccgatgcccgcfs	p.PDAR1051fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.PDAR1051fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1051	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1054S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTCCATGGAGCGGGCATCGGGCTCATTGGA	0.64																																							uc010dfm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3151-3162)CCCGATGCCCGCfs		sidekick 2																																				SO:0001589	frameshift_variant	54549				cell adhesion	integral to membrane		g.chr17:71394500_71394510delGCGGGCATCGG	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3152_3162delCCGATGCCCGC	17.37:g.71394500_71394510delGCGGGCATCGG	ENSP00000376421:p.Pro1051fs					SDK2_uc002jjt.3_Frame_Shift_Del_p.P210fs|SDK2_uc010dfn.2_Frame_Shift_Del_p.P730fs	p.P1051fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			23	3152_3162	-			1051_1054			Fibronectin type-III 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Del	DEL	ENST00000392650.3	37	c.3152_3162delCCGATGCCCGC	CCDS45769.1																																																																																				0.640	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		9	71	NA	NA	NA	NA	NA	9	71	---	---	---	---
AQP4	361	broad.mit.edu	37	18	24441125	24441125	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:24441125delT	ENST00000383168.4	-	3	710	c.582delA	c.(580-582)ggafs	p.G194fs	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Frame_Shift_Del_p.G172fs|AQP4_ENST00000440832.3_Frame_Shift_Del_p.G172fs|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	194					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAACAGAAAATCCAATTGCTA	0.383																																							uc002kwa.2		NA																	0					0						c.(580-582)GGAfs		aquaporin 4 isoform a							103.0	99.0	100.0					18																	24441125		2203	4300	6503	SO:0001589	frameshift_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24441125delT	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.582delA	18.37:g.24441125delT	ENSP00000372654:p.Gly194fs					AQP4_uc002kvz.2_Frame_Shift_Del_p.G172fs	p.G194fs	NM_001650	NP_001641	P55087	AQP4_HUMAN			3	645	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		194			Helical; (Potential).		P78564	Frame_Shift_Del	DEL	ENST00000383168.4	37	c.582delA	CCDS11889.1																																																																																				0.383	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		68	11	NA	NA	NA	NA	NA	68	11	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179594	65179594	+	Frame_Shift_Del	DEL	C	C	-	rs149331251		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr18:65179594delC	ENST00000310045.7	-	2	3755	c.2282delG	c.(2281-2283)ggcfs	p.G761fs	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	751					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGCTTGAGTGCCCAAACCAAA	0.383																																							uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(2281-2283)GGCfs		dermatan sulfate epimerase-like							52.0	55.0	54.0					18																	65179594		2203	4300	6503	SO:0001589	frameshift_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179594delC	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2282delG	18.37:g.65179594delC	ENSP00000310565:p.Gly761fs						p.G761fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	3506	-		Esophageal squamous(42;0.129)	751					Q17RH1|Q6P5Z3	Frame_Shift_Del	DEL	ENST00000310045.7	37	c.2282delG	CCDS11995.1																																																																																				0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		25	3	NA	NA	NA	NA	NA	25	3	---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764212	9764213	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:9764212_9764213delAG	ENST00000448622.1	-	6	855_856	c.693_694delCT	c.(691-696)ctctgtfs	p.C232fs	ZNF562_ENST00000537617.1_Frame_Shift_Del_p.C116fs|ZNF562_ENST00000293648.4_Frame_Shift_Del_p.C160fs|ZNF562_ENST00000590155.1_Frame_Shift_Del_p.C231fs|ZNF562_ENST00000453372.2_Frame_Shift_Del_p.C232fs|ZNF562_ENST00000541032.1_Frame_Shift_Del_p.C195fs|ZNF562_ENST00000453792.2_Frame_Shift_Del_p.C163fs	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TGAAATTCACAGAGTTTCTCTC	0.396																																							uc010xks.1		NA																	0					0						c.(691-696)CTCTGTfs		zinc finger protein 562 isoform a																																				SO:0001589	frameshift_variant	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764212_9764213delAG	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.693_694delCT	19.37:g.9764214_9764215delAG	ENSP00000411784:p.Cys232fs					ZNF562_uc002mly.2_Frame_Shift_Del_p.L231fs|ZNF562_uc002mlx.2_Frame_Shift_Del_p.L159fs|ZNF562_uc010xkt.1_Frame_Shift_Del_p.L194fs|ZNF562_uc010xku.1_Frame_Shift_Del_p.L162fs|ZNF562_uc010xkv.1_Frame_Shift_Del_p.L230fs|ZNF562_uc010xkw.1_Frame_Shift_Del_p.L115fs	p.L231fs	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			6	856_857	-			231_232					Q32MN2|Q9NXS5	Frame_Shift_Del	DEL	ENST00000448622.1	37	c.693_694delCT	CCDS45956.1																																																																																				0.396	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		40	12	NA	NA	NA	NA	NA	40	12	---	---	---	---
PBX4	80714	broad.mit.edu	37	19	19672896	19672896	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:19672896delG	ENST00000251203.9	-	8	1349	c.1063delC	c.(1063-1065)caafs	p.Q355fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	355					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTTGCAGGTTGGGGGGTGGCC	0.597																																							uc002nmy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1063-1065)CAAfs		pre-B-cell leukemia homeobox 4							41.0	38.0	39.0					19																	19672896		2203	4300	6503	SO:0001589	frameshift_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19672896delG	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.1063delC	19.37:g.19672896delG	ENSP00000251203:p.Gln355fs					PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Frame_Shift_Del_p.Q190fs	p.Q355fs	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN			8	1064	-			355					A5D8Y0|B3KUK9	Frame_Shift_Del	DEL	ENST00000251203.9	37	c.1063delC	CCDS12406.1																																																																																				0.597	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			8	7	NA	NA	NA	NA	NA	8	7	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43576090	43576090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr19:43576090delG	ENST00000406487.1	-	4	824	c.726delC	c.(724-726)cccfs	p.P242fs		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTGAATTCTGGGGAGGTCTG	0.493																																							uc002ovr.2		NA																	0					0						c.(724-726)CCCfs		pregnancy specific beta-1-glycoprotein 2							134.0	147.0	143.0					19																	43576090		2203	4298	6501	SO:0001589	frameshift_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576090delG		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.726delC	19.37:g.43576090delG	ENSP00000385706:p.Pro242fs					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Frame_Shift_Del_p.P242fs|PSG2_uc010eiq.1_Frame_Shift_Del_p.P242fs|PSG2_uc002ovs.3_Frame_Shift_Del_p.P242fs|PSG2_uc002ovt.3_Frame_Shift_Del_p.P242fs	p.P242fs	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	819	-		Prostate(69;0.00682)	242			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Frame_Shift_Del	DEL	ENST00000406487.1	37	c.726delC	CCDS12616.1																																																																																				0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		125	37	NA	NA	NA	NA	NA	125	37	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96993095	96993095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:96993095delC	ENST00000439118.2	+	3	977	c.726delC	c.(724-726)gtcfs	p.V242fs	ITPRIPL1_ENST00000361124.4_Frame_Shift_Del_p.V250fs|ITPRIPL1_ENST00000542887.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_ENST00000536814.1_Frame_Shift_Del_p.V234fs	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	242						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCCCATTGTCCCCCCACAGG	0.587																																							uc002svx.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(724-726)GTCfs		inositol 1,4,5-triphosphate receptor interacting							38.0	41.0	40.0					2																	96993095		2203	4300	6503	SO:0001589	frameshift_variant	150771					integral to membrane		g.chr2:96993095delC		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.726delC	2.37:g.96993095delC	ENSP00000389308:p.Val242fs					ITPRIPL1_uc010yuk.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_uc002svy.2_Frame_Shift_Del_p.V250fs|ITPRIPL1_uc010yul.1_Frame_Shift_Del_p.V234fs	p.V242fs	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1061	+			242			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Frame_Shift_Del	DEL	ENST00000439118.2	37	c.726delC	CCDS46360.1																																																																																				0.587	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		15	29	NA	NA	NA	NA	NA	15	29	---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118704407	118704408	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:118704407_118704408delCT	ENST00000376300.2	-	16	1412_1413	c.1275_1276delAG	c.(1273-1278)agagcafs	p.RA425fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.RA424fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	425										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CCACGTGGTGCTCTCTCAGCTT	0.406																																							uc002tlj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1273-1278)AGAGCAfs		coiled-coil domain containing 93																																				SO:0001589	frameshift_variant	54520							g.chr2:118704407_118704408delCT	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1275_1276delAG	2.37:g.118704411_118704412delCT	ENSP00000365477:p.Arg425fs					CCDC93_uc010fld.1_Frame_Shift_Del_p.R425fs	p.R425fs	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			16	1401_1402	-			425_426			Potential.		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Frame_Shift_Del	DEL	ENST00000376300.2	37	c.1275_1276delAG	CCDS2121.2																																																																																				0.406	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		15	94	NA	NA	NA	NA	NA	15	94	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141298599	141298599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:141298599delT	ENST00000389484.3	-	45	8427	c.7456delA	c.(7456-7458)agafs	p.R2486fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2486	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATTCACTCTCCCATTGGGA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7456-7458)AGAfs		low density lipoprotein-related protein 1B							145.0	134.0	138.0					2																	141298599		2203	4300	6503	SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141298599delT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7456delA	2.37:g.141298599delT	ENSP00000374135:p.Arg2486fs	TSP Lung(27;0.18)					p.R2486fs	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	45	8428	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2486			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	c.7456delA	CCDS2182.1																																																																																				0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		33	39	NA	NA	NA	NA	NA	33	39	---	---	---	---
MYL1	4632	broad.mit.edu	37	2	211163245	211163271	+	In_Frame_Del	DEL	GAATCACCTGTTCTGTCAAACAGGAGA	GAATCACCTGTTCTGTCAAACAGGAGA	-	rs11554011|rs1135254		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	GAATCACCTGTTCTGTCAAACAGGAGA	GAATCACCTGTTCTGTCAAACAGGAGA	-	-	GAATCACCTGTTCTGTCAAACAGGAGA	GAATCACCTGTTCTGTCAAACAGGAGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:211163245_211163271delGAATCACCTGTTCTGTCAAACAGGAGA	ENST00000352451.3	-	3	324_350	c.177_203delTCTCCTGTTTGACAGAACAGGTGATTC	c.(175-204)tttctcctgtttgacagaacaggtgattcc>ttc	p.LLFDRTGDS60del	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_In_Frame_Del_p.LLFDRTGDS16del	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	60	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGTGATCTTGGAATCACCTGTTCTGTCAAACAGGAGAAATGCCTCCT	0.427																																							uc002vec.2		NA																	0				ovary(1)	1						c.(175-204)TTTCTCCTGTTTGACAGAACAGGTGATTCC>TTC		fast skeletal myosin alkali light chain 1																																				SO:0001651	inframe_deletion	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211163245_211163271delGAATCACCTGTTCTGTCAAACAGGAGA		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.177_203delTCTCCTGTTTGACAGAACAGGTGATTC	2.37:g.211163245_211163271delGAATCACCTGTTCTGTCAAACAGGAGA	ENSP00000307280:p.Leu60_Ser68del					MYL1_uc002veb.2_In_Frame_Del_p.LLFDRTGDS16del	p.LLFDRTGDS60del	NM_079420	NP_524144	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	3	306_332	-			60_68			EF-hand 1.		B2R4N6|B2R4T6|P06741|Q6IBD5	In_Frame_Del	DEL	ENST00000352451.3	37	c.177_203delTCTCCTGTTTGACAGAACAGGTGATTC	CCDS2390.1																																																																																				0.427	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		8	31	NA	NA	NA	NA	NA	8	31	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219251925	219251927	+	In_Frame_Del	DEL	CTT	CTT	-	rs145226482		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr2:219251925_219251927delCTT	ENST00000233202.6	+	6	883_885	c.543_545delCTT	c.(541-546)accttc>acc	p.F184del	SLC11A1_ENST00000539932.1_In_Frame_Del_p.F66del	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	184					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGTGGACACCTTCTTCTTCCTC	0.596																																							uc002vhv.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(541-546)ACCTTC>ACC		natural resistance-associated macrophage protein																																				SO:0001651	inframe_deletion	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219251925_219251927delCTT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.543_545delCTT	2.37:g.219251931_219251933delCTT	ENSP00000233202:p.Phe184del					SLC11A1_uc010zkb.1_3'UTR|SLC11A1_uc010fvp.1_In_Frame_Del_p.F184del|SLC11A1_uc010fvq.1_In_Frame_Del_p.F117del|SLC11A1_uc010zkc.1_In_Frame_Del_p.F117del|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_In_Frame_Del_p.F66del|SLC11A1_uc010fvr.2_5'UTR	p.F184del	NM_000578	NP_000569	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	883_885	+		Renal(207;0.0474)	184			Helical; (Potential).		C0H5Y3	In_Frame_Del	DEL	ENST00000233202.6	37	c.543_545delCTT	CCDS2415.1																																																																																				0.596	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		9	98	NA	NA	NA	NA	NA	9	98	---	---	---	---
ADRM1	11047	broad.mit.edu	37	20	60881371	60881372	+	In_Frame_Ins	INS	-	-	AGGCGG			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr20:60881371_60881372insAGGCGG	ENST00000253003.2	+	4	495_496	c.449_450insAGGCGG	c.(448-453)ctaggc>ctAGGCGGaggc	p.151_152insGG	LAMA5_ENST00000492698.1_5'Flank|RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	151	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CTCTCTGCGCTAGGCGGTAACT	0.599																																							uc002ycn.2		NA																	0					0						c.(448-450)CTA>CTAGGCGGA		adhesion regulating molecule 1 precursor																																				SO:0001652	inframe_insertion	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60881371_60881372insAGGCGG	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.450_455dupAGGCGG	20.37:g.60881372_60881377dupAGGCGG	ENSP00000253003:p.Gly151_Gly152insGlyGly					ADRM1_uc011aai.1_In_Frame_Ins_p.152_153insGG|ADRM1_uc002yco.2_In_Frame_Ins_p.152_153insGG|ADRM1_uc002ycp.1_RNA	p.152_153insGG	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		4	529_530	+	Breast(26;7.76e-09)		152_153			Gly-rich.		A0PKB1|Q96FJ7|Q9H1P2	In_Frame_Ins	INS	ENST00000253003.2	37	c.449_450insAGGCGG	CCDS13496.1																																																																																				0.599	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			15	193	NA	NA	NA	NA	NA	15	193	---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18210074	18210076	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:18210074_18210076delAGA	ENST00000317582.5	+	7	1579_1581	c.1232_1234delAGA	c.(1231-1236)gagaag>gag	p.K412del	BCL2L13_ENST00000538149.1_In_Frame_Del_p.K288del|BCL2L13_ENST00000337612.5_In_Frame_Del_p.K250del|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_In_Frame_Del_p.K250del|BCL2L13_ENST00000355028.3_3'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	412	Glu-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGCTGAGTGAGAAGGAGATAAA	0.557																																							uc002zmw.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1231-1236)GAGAAG>GAG		BCL2-like 13 (apoptosis facilitator)																																				SO:0001651	inframe_deletion	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18210074_18210076delAGA	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.1232_1234delAGA	22.37:g.18210074_18210076delAGA	ENSP00000318883:p.Lys412del					BCL2L13_uc002zmx.2_In_Frame_Del_p.K250del|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_In_Frame_Del_p.K250del|BCL2L13_uc011agk.1_In_Frame_Del_p.K288del|BCL2L13_uc010gqz.2_In_Frame_Del_p.K132del|BCL2L13_uc002zmz.2_In_Frame_Del_p.K250del|BCL2L13_uc002zna.2_In_Frame_Del_p.K132del	p.K412del	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	7	1450_1452	+		all_epithelial(15;0.123)	412			Glu-rich.		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	In_Frame_Del	DEL	ENST00000317582.5	37	c.1232_1234delAGA	CCDS13746.1																																																																																				0.557	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		28	99	NA	NA	NA	NA	NA	28	99	---	---	---	---
LRP5L	91355	broad.mit.edu	37	22	25753294	25753294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:25753294delC	ENST00000402785.2	-	2	462	c.366delG	c.(364-366)tggfs	p.W122fs	LRP5L_ENST00000402859.2_Frame_Shift_Del_p.W122fs|LRP5L_ENST00000444995.3_Frame_Shift_Del_p.W122fs			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	122					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GGCCGTTGGGCCACCCGAGGG	0.597																																							uc003abs.2		NA																	0					0						c.(364-366)TGGfs		low density lipoprotein receptor-related protein							126.0	103.0	111.0					22																	25753294		2200	4300	6500	SO:0001589	frameshift_variant	91355							g.chr22:25753294delC	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.366delG	22.37:g.25753294delC	ENSP00000384562:p.Trp122fs					LRP5L_uc011ajz.1_Frame_Shift_Del_p.W122fs|LRP5L_uc010guw.1_Frame_Shift_Del_p.W122fs	p.W122fs	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN			2	2831	-			122			LDL-receptor class B 3.		B0QYF3|B0QYF4|B2RPI5	Frame_Shift_Del	DEL	ENST00000402785.2	37	c.366delG	CCDS33626.1																																																																																				0.597	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		106	15	NA	NA	NA	NA	NA	106	15	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51160242	51160242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr22:51160242delC	ENST00000414786.2	+	21	4166	c.3939delC	c.(3937-3939)ggcfs	p.G1313fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.G1329fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.G1343fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1327	Pro-rich.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGGCCCGGGCCCCTCGCCCA	0.701																																							uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(4027-4029)GGCfs		SH3 and multiple ankyrin repeat domains 3							6.0	8.0	8.0					22																	51160242		1878	4044	5922	SO:0001589	frameshift_variant	85358							g.chr22:51160242delC	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3939delC	22.37:g.51160242delC	ENSP00000464552:p.Gly1313fs					SHANK3_uc003bnf.1_Frame_Shift_Del_p.G790fs|SHANK3_uc010hbg.1_Frame_Shift_Del_p.G525fs	p.G1343fs	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	4029	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1343					D7UT47|Q8TET3	Frame_Shift_Del	DEL	ENST00000414786.2	37	c.4029delC																																																																																					0.701	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170858288	170858289	+	Frame_Shift_Del	DEL	CG	CG	-	rs202164288		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr3:170858288_170858289delCG	ENST00000436636.2	-	13	1575_1576	c.1231_1232delCG	c.(1231-1233)cgafs	p.R411fs	TNIK_ENST00000460047.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.R411fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.R411fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.R411fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.R411fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.R411fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	411	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCCTTCTCTCGCCTTTGTTGC	0.624																																							uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1231-1233)CGAfs		TRAF2 and NCK interacting kinase isoform 1																																				SO:0001589	frameshift_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170858288_170858289delCG	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1231_1232delCG	3.37:g.170858288_170858289delCG	ENSP00000399511:p.Arg411fs					TNIK_uc003fhi.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhj.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhk.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhl.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhm.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhn.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fho.2_Frame_Shift_Del_p.R411fs	p.R411fs	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		13	1576_1577	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		411			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	c.1231_1232delCG	CCDS46956.1																																																																																				0.624	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		42	173	NA	NA	NA	NA	NA	42	173	---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23815781	23815781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:23815781delT	ENST00000264867.2	-	8	1444	c.1325delA	c.(1324-1326)aagfs	p.K442fs	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	442	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGAGACCTGCTTGCTTGCCTC	0.488																																					Esophageal Squamous(29;694 744 13796 34866 44181)	Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	0				ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1324-1326)AAGfs		peroxisome proliferator-activated receptor							76.0	69.0	71.0					4																	23815781		2203	4300	6503	SO:0001589	frameshift_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815781delT	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1325delA	4.37:g.23815781delT	ENSP00000264867:p.Lys442fs					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.K442fs	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1445	-		Breast(46;0.0503)	442					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Frame_Shift_Del	DEL	ENST00000264867.2	37	c.1325delA	CCDS3429.1																																																																																				0.488	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		24	61	NA	NA	NA	NA	NA	24	61	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177021	44177021	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:44177021delG	ENST00000360029.3	-	2	1491	c.1208delC	c.(1207-1209)ccafs	p.P404fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	404					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTGTCTGGTGGGGGTATCCA	0.483										HNSCC(17;0.042)																													uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1207-1209)CCAfs		potassium channel tetramerisation domain							198.0	203.0	201.0					4																	44177021		2203	4300	6503	SO:0001589	frameshift_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177021delG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1208delC	4.37:g.44177021delG	ENSP00000353129:p.Pro404fs	HNSCC(17;0.042)					p.P403fs	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1492	-			403					A2RU39	Frame_Shift_Del	DEL	ENST00000360029.3	37	c.1208delC	CCDS3467.1																																																																																				0.483	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			65	220	NA	NA	NA	NA	NA	65	220	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66467899	66467899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:66467899delA	ENST00000273854.3	-	3	970	c.370delT	c.(370-372)tccfs	p.S124fs	EPHA5_ENST00000354839.4_Frame_Shift_Del_p.S124fs|EPHA5_ENST00000432638.2_Frame_Shift_Del_p.S124fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.S124fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	124	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGATTCTGGAAGCACCTTCA	0.423										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(370-372)TCCfs		ephrin receptor EphA5 isoform a precursor							102.0	106.0	105.0					4																	66467899		2203	4300	6503	SO:0001589	frameshift_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467899delA	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.370delT	4.37:g.66467899delA	ENSP00000273854:p.Ser124fs	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Frame_Shift_Del_p.S55fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.S124fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.S124fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.S124fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.S124fs	p.S124fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	563	-			124			Extracellular (Potential).		Q7Z3F2	Frame_Shift_Del	DEL	ENST00000273854.3	37	c.370delT	CCDS3513.1																																																																																				0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		34	46	NA	NA	NA	NA	NA	34	46	---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100443707	100443707	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:100443707delG	ENST00000326581.4	+	3	540	c.178delG	c.(178-180)ggafs	p.G60fs	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000514652.1_Frame_Shift_Del_p.G60fs	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	60										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GAATGCATTTGGAACATTGTG	0.428																																							uc003huw.2		NA																	0					0						c.(178-180)GGAfs		hypothetical protein LOC84103							171.0	150.0	157.0					4																	100443707		2203	4300	6503	SO:0001589	frameshift_variant	84103							g.chr4:100443707delG	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.178delG	4.37:g.100443707delG	ENSP00000322582:p.Gly60fs					C4orf17_uc003hux.2_RNA	p.G60fs	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	3	501	+			60					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Frame_Shift_Del	DEL	ENST00000326581.4	37	c.178delG	CCDS3649.1																																																																																				0.428	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		23	35	NA	NA	NA	NA	NA	23	35	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372442	126372444	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:126372442_126372444delCCT	ENST00000394329.3	+	9	10284_10286	c.10271_10273delCCT	c.(10270-10275)accttt>att	p.3424_3425TF>I	FAT4_ENST00000335110.5_In_Frame_Del_p.1722_1723TF>I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3424	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCATGTGACCTTTGTCAGTGC	0.453																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10270-10275)ACCTTT>ATT		FAT tumor suppressor homolog 4 precursor																																				SO:0001651	inframe_deletion	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372442_126372444delCCT	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10271_10273delCCT	4.37:g.126372442_126372444delCCT	ENSP00000377862:p.Thr3424_Phe3425delinsIle					FAT4_uc011cgp.1_In_Frame_Del_p.1722_1723TF>I|FAT4_uc003ifi.1_In_Frame_Del_p.902_903TF>I	p.3424_3425TF>I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10271_10273	+			3424_3425			Cadherin 33.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	In_Frame_Del	DEL	ENST00000394329.3	37	c.10271_10273delCCT	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		24	66	NA	NA	NA	NA	NA	24	66	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																							uc003ikv.2		NA																	0				breast(1)	1						c.(163-168)insGGC		Brn3b POU domain transcription factor																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup						p.68_69insG	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		68_69					B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	7	NA	NA	NA	NA	NA	5	7	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38502756	38502758	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:38502756_38502758delTGT	ENST00000263409.4	-	11	1743_1745	c.1581_1583delACA	c.(1579-1584)caacat>cat	p.Q527del	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_In_Frame_Del_p.Q527del	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	527	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTTGTTAAATGTTGTTTTTTAT	0.335			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(1579-1584)CAACAT>CAT		leukemia inhibitory factor receptor precursor																																				SO:0001651	inframe_deletion	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38502756_38502758delTGT	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1581_1583delACA	5.37:g.38502759_38502761delTGT	ENSP00000263409:p.Gln527del					LIFR_uc003jli.2_In_Frame_Del_p.Q527del	p.Q527del	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			11	1913_1915	-	all_lung(31;0.00021)		527			Extracellular (Potential).|Fibronectin type-III 3.		Q6LCD9	In_Frame_Del	DEL	ENST00000263409.4	37	c.1581_1583delACA	CCDS3927.1																																																																																				0.335	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		33	75	NA	NA	NA	NA	NA	33	75	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558334	140558334	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr5:140558334delC	ENST00000239444.2	+	1	964	c.719delC	c.(718-720)gccfs	p.A240fs	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	240	Cadherin 2. {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(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGATAATGCCCCTGAATTT	0.507																																							uc011dai.1		NA																	0				skin(4)	4						c.(718-720)GCCfs		protocadherin beta 8 precursor							202.0	258.0	239.0					5																	140558334		2203	4300	6503	SO:0001589	frameshift_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558334delC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.719delC	5.37:g.140558334delC	ENSP00000239444:p.Ala240fs					PCDHB16_uc003liv.2_5'Flank	p.A240fs	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	905	+			240			Cadherin 2.|Extracellular (Potential).		B9EGV1	Frame_Shift_Del	DEL	ENST00000239444.2	37	c.719delC	CCDS4250.1																																																																																				0.507	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		83	237	NA	NA	NA	NA	NA	83	237	---	---	---	---
TAAR9	134860	broad.mit.edu	37	6	132859668	132859668	+	RNA	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:132859668delG	ENST00000434551.1	+	0	240					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CTGACTTCTTGGTGGGAGTCA	0.463																																					Colon(10;433 445 15992 45047 47213)	Colon(10;433 445 15992 45047 47213)	uc011eci.1		NA																	0					0						c.(238-240)TTGfs		trace amine associated receptor 9							187.0	182.0	184.0					6																	132859668		2180	4291	6471			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859668delG	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859668delG							p.L80fs	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	2	242	+	Breast(56;0.112)		80			Helical; Name=2; (Potential).			Frame_Shift_Del	DEL	ENST00000434551.1	37	c.240delG																																																																																					0.463	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		24	57	NA	NA	NA	NA	NA	24	57	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150005349	150005349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr6:150005349delT	ENST00000543571.1	-	4	1423	c.876delA	c.(874-876)ccafs	p.P293fs	LATS1_ENST00000392273.3_Frame_Shift_Del_p.P293fs|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P293fs|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATGCCCCAGGTGGGACAGGAG	0.507																																							uc003qmu.1		NA																	0				lung(5)|central_nervous_system(1)	6						c.(874-876)CCAfs		LATS homolog 1							139.0	132.0	134.0					6																	150005349		2203	4300	6503	SO:0001589	frameshift_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005349delT	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.876delA	6.37:g.150005349delT	ENSP00000437550:p.Pro293fs					LATS1_uc010kif.1_Frame_Shift_Del_p.P187fs|LATS1_uc003qmv.1_Frame_Shift_Del_p.P292fs|LATS1_uc003qmw.2_Frame_Shift_Del_p.P292fs|LATS1_uc010kig.1_Frame_Shift_Del_p.P187fs	p.P292fs	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1424	-		Ovarian(120;0.0164)	292						Frame_Shift_Del	DEL	ENST00000543571.1	37	c.876delA	CCDS34551.1																																																																																				0.507	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		73	17	NA	NA	NA	NA	NA	73	17	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14880840	14880840	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:14880840delG	ENST00000403951.2	-	2	468	c.49delC	c.(49-51)caafs	p.Q17fs	DGKB_ENST00000444700.2_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000258767.5_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Frame_Shift_Del_p.Q17fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.Q17fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	17					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTCTGAAGTTGGGAAAATTCC	0.368																																							uc003ssz.2		NA																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(49-51)CAAfs		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						79.0	77.0	78.0					7																	14880840		1842	4085	5927	SO:0001589	frameshift_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14880840delG	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.49delC	7.37:g.14880840delG	ENSP00000385780:p.Gln17fs					DGKB_uc011jxt.1_Frame_Shift_Del_p.Q17fs|DGKB_uc003sta.2_Frame_Shift_Del_p.Q17fs|DGKB_uc011jxu.1_Frame_Shift_Del_p.Q17fs|DGKB_uc011jxv.1_Frame_Shift_Del_p.Q17fs	p.Q17fs	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			1	236	-			17					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Frame_Shift_Del	DEL	ENST00000403951.2	37	c.49delC	CCDS47547.1																																																																																				0.368	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		16	16	NA	NA	NA	NA	NA	16	16	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31117644	31117644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:31117644delC	ENST00000304166.4	+	4	485	c.196delC	c.(196-198)cccfs	p.P66fs	ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.P66fs|ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.P66fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	66					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTTGGAAGCCCGCCCATGT	0.587																																					Ovarian(44;225 1186 2158 11092)	Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	0				ovary(1)	1						c.(196-198)CCCfs		adenylate cyclase activating polypeptide 1							184.0	136.0	153.0					7																	31117644		2203	4300	6503	SO:0001589	frameshift_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31117644delC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.196delC	7.37:g.31117644delC	ENSP00000306620:p.Pro66fs					ADCYAP1R1_uc003tcb.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_uc003tcc.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_uc003tcd.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_uc003tce.1_Frame_Shift_Del_p.P66fs	p.P66fs	NM_001118	NP_001109	P41586	PACR_HUMAN			4	419	+			66			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Del	DEL	ENST00000304166.4	37	c.196delC	CCDS5433.1																																																																																				0.587	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		18	91	NA	NA	NA	NA	NA	18	91	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31692358	31692360	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:31692358_31692360delCTT	ENST00000407970.3	+	14	3088_3090	c.3050_3052delCTT	c.(3049-3054)ccttca>cca	p.S1020del	CCDC129_ENST00000409210.1_In_Frame_Del_p.S928del|CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000319386.3_In_Frame_Del_p.S872del	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1020										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGATGTCTCCTTCATCATCAGC	0.522																																							uc003tcj.1		NA																	0					0						c.(3049-3054)CCTTCA>CCA		coiled-coil domain containing 129				46,4218		23,0,2109						2.5	0.4			99	110,8144		54,2,4071	no	coding	CCDC129	NM_194300.2		77,2,6180	A1A1,A1R,RR		1.3327,1.0788,1.2462				156,12362				SO:0001651	inframe_deletion	223075							g.chr7:31692358_31692360delCTT	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.3050_3052delCTT	7.37:g.31692358_31692360delCTT	ENSP00000384416:p.Ser1020del					CCDC129_uc011kad.1_In_Frame_Del_p.S1030del|CCDC129_uc003tci.1_In_Frame_Del_p.S871del|CCDC129_uc011kae.1_Intron|CCDC129_uc003tck.1_In_Frame_Del_p.S928del	p.S1020del	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			14	4043_4045	+			1020					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	In_Frame_Del	DEL	ENST00000407970.3	37	c.3050_3052delCTT	CCDS5435.2																																																																																				0.522	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		22	96	NA	NA	NA	NA	NA	22	96	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47407966	47407966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:47407966delC	ENST00000398879.1	-	17	2643	c.2277delG	c.(2275-2277)cggfs	p.R759fs	TNS3_ENST00000311160.9_Frame_Shift_Del_p.R759fs|TNS3_ENST00000355730.3_Frame_Shift_Del_p.R519fs			Q68CZ2	TENS3_HUMAN	tensin 3	759					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTCACCTTGCCGCCCGGTGG	0.632																																							uc003tnv.2		NA																	0				ovary(4)	4						c.(2275-2277)CGGfs		tensin 3							96.0	108.0	104.0					7																	47407966		1970	4146	6116	SO:0001589	frameshift_variant	64759					focal adhesion	protein binding	g.chr7:47407966delC	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2277delG	7.37:g.47407966delC	ENSP00000381854:p.Arg759fs					TNS3_uc003tnw.2_Frame_Shift_Del_p.R759fs	p.R759fs	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			17	2644	-			759					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Frame_Shift_Del	DEL	ENST00000398879.1	37	c.2277delG	CCDS5506.2																																																																																				0.632	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		55	301	NA	NA	NA	NA	NA	55	301	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123109440	123109440	+	Splice_Site	DEL	T	T	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:123109440delT	ENST00000466202.1	-	9	1987		c.e9-2		IQUB_ENST00000434450.1_Splice_Site|IQUB_ENST00000324698.6_Splice_Site	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGCTGAACACttaaaaataat	0.318																																							uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.e9-1		IQ motif and ubiquitin domain containing							47.0	45.0	46.0					7																	123109440		2203	4300	6503	SO:0001630	splice_region_variant	154865							g.chr7:123109440delT	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1411-2A>-	7.37:g.123109440delT						IQUB_uc003vko.2_Splice_Site_p.C471_splice|IQUB_uc010lkt.2_Splice_Site|IQUB_uc003vkp.1_Splice_Site_p.C471_splice	p.C471_splice	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			9	1988	-								A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Splice_Site	DEL	ENST00000466202.1	37	c.1411_splice	CCDS5787.1																																																																																				0.318	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	Intron	21	6	NA	NA	NA	NA	NA	21	6	---	---	---	---
REPIN1	29803	broad.mit.edu	37	7	150069438	150069439	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr7:150069438_150069439insC	ENST00000425389.2	+	1	1186_1187	c.1108_1109insC	c.(1108-1110)gccfs	p.A370fs	REPIN1_ENST00000540729.1_Frame_Shift_Ins_p.A370fs|REPIN1_ENST00000397281.2_Frame_Shift_Ins_p.A370fs|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Frame_Shift_Ins_p.A427fs|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Frame_Shift_Ins_p.A370fs	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	370	Pro-rich.				DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCGATCGAAGCCCCCCCCTCC	0.752																																							uc010lpq.1		NA																	0				pancreas(1)	1						c.(1108-1110)GCCfs		replication initiator 1 isoform 1																																				SO:0001589	frameshift_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069438_150069439insC	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1116dupC	7.37:g.150069446_150069446dupC	ENSP00000388287:p.Ala370fs					REPIN1_uc003whd.2_Frame_Shift_Ins_p.A359fs|REPIN1_uc010lpr.1_Frame_Shift_Ins_p.A427fs|REPIN1_uc003whc.2_Frame_Shift_Ins_p.A370fs|REPIN1_uc003whe.2_Frame_Shift_Ins_p.A370fs	p.A370fs	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1597_1598	+	Ovarian(565;0.183)|Melanoma(164;0.226)		370			Pro-rich.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Frame_Shift_Ins	INS	ENST00000425389.2	37	c.1108_1109insC	CCDS43677.1																																																																																				0.752	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
NBN	4683	broad.mit.edu	37	8	90965709	90965709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:90965709delG	ENST00000265433.3	-	11	1762	c.1608delC	c.(1606-1608)gccfs	p.A536fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.A454fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	536					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GAGATTTACTGGCAGAATTTT	0.348								Homologous recombination																															uc003yej.1		NA																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(1606-1608)GCCfs	Direct_reversal_of_damage|Homologous_recombination	nibrin							140.0	137.0	138.0					8																	90965709		2203	4299	6502	SO:0001589	frameshift_variant	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965709delG	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1608delC	8.37:g.90965709delG	ENSP00000265433:p.Ala536fs					NBN_uc003yei.1_Frame_Shift_Del_p.A454fs|NBN_uc011lgb.1_Frame_Shift_Del_p.A536fs	p.A536fs	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1718	-			536					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Frame_Shift_Del	DEL	ENST00000265433.3	37	c.1608delC	CCDS6249.1																																																																																				0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		21	46	NA	NA	NA	NA	NA	21	46	---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95653626	95653628	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:95653626_95653628delAGA	ENST00000433389.2	+	1	270_272	c.80_82delAGA	c.(79-84)gagaag>gag	p.K28del	ESRP1_ENST00000423620.2_In_Frame_Del_p.K28del|ESRP1_ENST00000358397.5_In_Frame_Del_p.K28del|ESRP1_ENST00000454170.2_In_Frame_Del_p.K28del|RP11-22C11.2_ENST00000562760.1_RNA	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	28					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGCTCGGATGAGAAGGAGTTGAT	0.532																																							uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(79-84)GAGAAG>GAG		RNA binding motif protein 35A isoform 1																																				SO:0001651	inframe_deletion	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95653626_95653628delAGA	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.80_82delAGA	8.37:g.95653626_95653628delAGA	ENSP00000405738:p.Lys28del					ESRP1_uc003ygr.3_In_Frame_Del_p.K28del|ESRP1_uc003ygs.3_In_Frame_Del_p.K28del|ESRP1_uc003ygt.3_In_Frame_Del_p.K28del|ESRP1_uc003ygu.3_In_Frame_Del_p.K28del	p.K28del	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			1	263_265	+			28					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	In_Frame_Del	DEL	ENST00000433389.2	37	c.80_82delAGA	CCDS47897.1																																																																																				0.532	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		20	46	NA	NA	NA	NA	NA	20	46	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144945106	144945106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:144945106delC	ENST00000525985.1	-	2	2387	c.2316delG	c.(2314-2316)acgfs	p.T772fs				P58107	EPIPL_HUMAN	epiplakin 1	772						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTCTCGTGCGTGTTGGGGT	0.627																																							uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(2314-2316)ACGfs		epiplakin 1							100.0	110.0	106.0					8																	144945106		2126	4232	6358	SO:0001589	frameshift_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945106delC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2316delG	8.37:g.144945106delC	ENSP00000436337:p.Thr772fs						p.T772fs	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	2329	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		772			Plectin 15.		Q76E58|Q9NSU9	Frame_Shift_Del	DEL	ENST00000525985.1	37	c.2316delG																																																																																					0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		34	56	NA	NA	NA	NA	NA	34	56	---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145947348	145947358	+	Frame_Shift_Del	DEL	AAGGATTTCTC	AAGGATTTCTC	-	rs373568652		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	AAGGATTTCTC	AAGGATTTCTC	-	-	AAGGATTTCTC	AAGGATTTCTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr8:145947348_145947358delAAGGATTTCTC	ENST00000292562.7	-	5	1962_1972	c.1687_1697delGAGAAATCCTT	c.(1687-1698)gagaaatcctttfs	p.EKSF563fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ATTACATCCAAAGGATTTCTCACCAGTGTGA	0.469																																							uc003zdv.3		NA																	0					0						c.(1687-1698)GAGAAATCCTTTfs		zinc finger protein 251																																				SO:0001589	frameshift_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947348_145947358delAAGGATTTCTC	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1687_1697delGAGAAATCCTT	8.37:g.145947348_145947358delAAGGATTTCTC	ENSP00000292562:p.Glu563fs						p.E563fs	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1943_1953	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		563_566			C2H2-type 12; degenerate.		Q2M219	Frame_Shift_Del	DEL	ENST00000292562.7	37	c.1687_1697delGAGAAATCCTT	CCDS47944.1																																																																																				0.469	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		27	46	NA	NA	NA	NA	NA	27	46	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8528692	8528692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:8528692delC	ENST00000381196.4	-	12	983	c.440delG	c.(439-441)tgtfs	p.C147fs	PTPRD_ENST00000355233.5_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000463477.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.C147fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.C147fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	147	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTGGCTGCACAAAGCATGGT	0.473										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(439-441)TGTfs		protein tyrosine phosphatase, receptor type, D							123.0	111.0	115.0					9																	8528692		2203	4300	6503	SO:0001589	frameshift_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8528692delC	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.440delG	9.37:g.8528692delC	ENSP00000370593:p.Cys147fs	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkq.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkr.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zks.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkl.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkm.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkn.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zko.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkt.1_Frame_Shift_Del_p.C147fs	p.C147fs	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	14	1151	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	147			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Frame_Shift_Del	DEL	ENST00000381196.4	37	c.440delG	CCDS43786.1																																																																																				0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			40	16	NA	NA	NA	NA	NA	40	16	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36087832	36087833	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:36087832_36087833delTT	ENST00000377966.3	+	9	1345_1346	c.779_780delTT	c.(778-780)cttfs	p.L260fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	260	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGATCCTCTTTGGCAATGTT	0.475																																							uc003zyv.2		NA																	0		p.L260F(1)		skin(2)|ovary(1)	3						c.(778-780)CTTfs		RECK protein precursor																																				SO:0001589	frameshift_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36087832_36087833delTT	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.779_780delTT	9.37:g.36087832_36087833delTT	ENSP00000367202:p.Leu260fs					RECK_uc003zyw.2_Frame_Shift_Del_p.L132fs|RECK_uc003zyx.2_RNA	p.L260fs	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		9	865_866	+			260			Knot 4.|5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Del	DEL	ENST00000377966.3	37	c.779_780delTT	CCDS6597.1																																																																																				0.475	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			15	46	NA	NA	NA	NA	NA	15	46	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37440624	37440625	+	Frame_Shift_Ins	INS	-	-	CTTA	rs11558453		TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:37440624_37440625insCTTA	ENST00000307750.4	-	2	2112_2113	c.1924_1925insTAAG	c.(1924-1926)gccfs	p.A642fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTTCAGGCAGGCGTAAGGCTTT	0.505																																							uc003zzx.2		NA																	0				ovary(2)	2						c.(1924-1926)GCCfs		zinc finger and BTB domain containing 5																																				SO:0001589	frameshift_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37440624_37440625insCTTA	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1924_1925insTAAG	9.37:g.37440624_37440625insCTTA	ENSP00000307604:p.Ala642fs						p.A642fs	NM_014872	NP_055687	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	2124_2125	-			642			C2H2-type 2; atypical.			Frame_Shift_Ins	INS	ENST00000307750.4	37	c.1924_1925insTAAG	CCDS6610.1																																																																																				0.505	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		27	51	NA	NA	NA	NA	NA	27	51	---	---	---	---
ZNF484	83744	broad.mit.edu	37	9	95608548	95608548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chr9:95608548delC	ENST00000375495.3	-	5	2669	c.2521delG	c.(2521-2523)gacfs	p.D841fs	ZNF484_ENST00000395506.3_Frame_Shift_Del_p.D843fs|ZNF484_ENST00000395505.2_Frame_Shift_Del_p.D805fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.D805fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	841					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCTTCTGAGTCCCCACACCAT	0.438																																							uc004asu.1		NA																	0					0						c.(2521-2523)GACfs		zinc finger protein 484 isoform a							167.0	160.0	163.0					9																	95608548		2203	4300	6503	SO:0001589	frameshift_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608548delC	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2521delG	9.37:g.95608548delC	ENSP00000364645:p.Asp841fs					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.D843fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.D805fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.D805fs	p.D841fs	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	2670	-			841					B1AL89|B4DRI2	Frame_Shift_Del	DEL	ENST00000375495.3	37	c.2521delG	CCDS35066.1																																																																																				0.438	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		88	24	NA	NA	NA	NA	NA	88	24	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38016264	38016264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:38016264delC	ENST00000378533.3	-	8	1080	c.974delG	c.(973-975)ggtfs	p.G325fs	SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Frame_Shift_Del_p.G325fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.G266fs|SRPX_ENST00000544439.1_Frame_Shift_Del_p.G305fs|SRPX_ENST00000343800.6_Frame_Shift_Del_p.G312fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	325					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CGTTCTGACACCCACATTGAC	0.498																																							uc004ddy.1		NA																	0					0						c.(973-975)GGTfs		sushi-repeat-containing protein, X-linked							109.0	91.0	97.0					X																	38016264		2202	4300	6502	SO:0001589	frameshift_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38016264delC	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.974delG	X.37:g.38016264delC	ENSP00000367794:p.Gly325fs					SRPX_uc004ddz.1_Frame_Shift_Del_p.G305fs|SRPX_uc011mkh.1_Frame_Shift_Del_p.G266fs|SRPX_uc011mki.1_Frame_Shift_Del_p.G325fs	p.G325fs	NM_006307	NP_006298	P78539	SRPX_HUMAN			8	1060	-			325					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Frame_Shift_Del	DEL	ENST00000378533.3	37	c.974delG	CCDS14245.1																																																																																				0.498	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		30	17	NA	NA	NA	NA	NA	30	17	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177718	89177718	+	Frame_Shift_Del	DEL	G	G	-	rs149582592	byFrequency	TCGA-78-7155-01A-11D-2036-08	TCGA-78-7155-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cf7882fa-4343-4c32-8940-2fc85cfb4c6e	14233f2d-dd7b-4330-a079-0f7158397e28	g.chrX:89177718delG	ENST00000561129.2	+	1	764	c.634delG	c.(634-636)gccfs	p.A212fs	TGIF2LX_ENST00000283891.5_Frame_Shift_Del_p.A212fs			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGAGGAGCACGCCGACTTCAG	0.532																																							uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(634-636)GCCfs		TGFB-induced factor homeobox 2-like, X-linked							56.0	60.0	59.0					X																	89177718		2202	4297	6499	SO:0001589	frameshift_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177718delG	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.634delG	X.37:g.89177718delG	ENSP00000453704:p.Ala212fs						p.A212fs	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	683	+			212					Q5JRM9|Q8TD48	Frame_Shift_Del	DEL	ENST00000561129.2	37	c.634delG	CCDS14459.1																																																																																				0.532	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		10	7	NA	NA	NA	NA	NA	10	7	---	---	---	---
